#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
HAUS6	54801	broad.mit.edu	37	9	19060130	19060130	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:19060130G>A	ENST00000380502.3	-	15	2188	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	574					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTAAGAAGGGGTTAGAACC	0.373																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1720-1722)cCc>cTc		HAUS augmin-like complex, subunit 6							52.0	49.0	50.0					9																	19060130		2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19060130G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1721C>T	9.37:g.19060130G>A	ENSP00000369871:p.Pro574Leu		Somatic				HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	p.P574L	NM_017645.3	NP_060115.3	WXS	Illumina GAIIx	Phase_I	Q7Z4H7	HAUS6_HUMAN			15	2188	-			574					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1721C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673853	0.88445	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.63744	0.98;0.89;-0.06	5.78	5.78	0.91487	.	0.098404	0.64402	D	0.000001	T	0.80864	0.4705	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.99;1.0;0.982	T	0.82226	-0.0562	10	0.87932	D	0	-10.0816	18.9869	0.92775	0.0:0.0:1.0:0.0	.	539;574;438;574	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	L	574;438;90	ENSP00000369871:P574L;ENSP00000369865:P438L;ENSP00000409615:P90L	ENSP00000369865:P438L	P	-	2	0	HAUS6	19050130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.964000	0.87933	2.738000	0.93877	0.591000	0.81541	CCC		0.373	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		5	44	0	0	0	1	0	5	44				
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e3-1		dynein, cytoplasmic 1, heavy chain 1							67.0	71.0	70.0					14																	102445654		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445654A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.345-1A>T	14.37:g.102445654A>T			Somatic						NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			3	508	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653968	0.88056	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101515407	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	8.930000	0.92872	2.207000	0.71202	0.459000	0.35465	.		0.358	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	8	433	0	0	0	1	0	8	433				
GKN2	200504	broad.mit.edu	37	2	69173558	69173558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:69173558C>T	ENST00000328895.4	-	5	458	c.350G>A	c.(349-351)tGg>tAg	p.W117*	GKN2_ENST00000481498.1_Nonsense_Mutation_p.W117*	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	117	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.W117L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						GTACTTGACCCAGGTGTATTT	0.403																																						ENST00000481498.1																			1	Substitution - Missense(1)	p.W117L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(349-351)tGg>tAg		gastrokine 2							177.0	166.0	169.0					2																	69173558		2203	4300	6503	SO:0001587	stop_gained	200504					extracellular region		g.chr2:69173558C>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.350G>A	2.37:g.69173558C>T	ENSP00000329292:p.Trp117*		Somatic				GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117*	p.W117*			WXS	Illumina GAIIx	Phase_I	Q86XP6	GKN2_HUMAN			5	368	-			117			BRICHOS.		Q6UWS6	Nonsense_Mutation	SNP	ENST00000328895.4	37	c.350G>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307126	0.60305	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	.	.	.	4.73	4.73	0.59995	.	0.108661	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-27.6979	13.0756	0.59085	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000329292:W117X	W	-	2	0	GKN2	69027062	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.775000	0.55349	2.448000	0.82819	0.555000	0.69702	TGG		0.403	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		4	229	0	0	0	1	0	4	229				
ADAMTS16	170690	broad.mit.edu	37	5	5209271	5209271	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:5209271A>T	ENST00000274181.7	+	10	1655	c.1517A>T	c.(1516-1518)aAa>aTa	p.K506I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	506	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K506I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TATCCTGAGAAATTGCCAGGA	0.448																																						ENST00000274181.7																			2	Substitution - Missense(2)	p.K506I(2)	kidney(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1516-1518)aAa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							148.0	144.0	145.0					5																	5209271		1908	4136	6044	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5209271A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1517A>T	5.37:g.5209271A>T	ENSP00000274181:p.Lys506Ile		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	p.K506I	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			10	1655	+			506			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1517A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419835	0.62622	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.03035	4.07;4.07	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.056726	0.64402	D	0.000002	T	0.11367	0.0277	L	0.49778	1.585	0.80722	D	1	D;P;D	0.60160	0.987;0.954;0.957	P;P;P	0.59056	0.831;0.851;0.786	T	0.05068	-1.0908	10	0.36615	T	0.2	.	15.3147	0.74065	1.0:0.0:0.0:0.0	.	506;506;506	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	506	ENSP00000274181:K506I;ENSP00000421631:K506I	ENSP00000274181:K506I	K	+	2	0	ADAMTS16	5262271	1.000000	0.71417	0.999000	0.59377	0.180000	0.23129	8.184000	0.89702	2.251000	0.74343	0.528000	0.53228	AAA		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		19	497	0	0	0	1	0	19	497				
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4525-4527)Tca>Aca		Rho GTPase activating protein 21							278.0	245.0	256.0					10																	24874693		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874693A>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4525T>A	10.37:g.24874693A>T	ENSP00000379709:p.Ser1509Thr		Somatic					p.S1509T	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5011	-			1508					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4525T>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	11.26	1.584958	0.28268	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10573	2.86	4.47	-8.32	0.00996	.	0.858387	0.10257	N	0.696485	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	10	0.45353	T	0.12	.	2.44	0.04492	0.203:0.4215:0.1952:0.1802	.	1508	Q5T5U3	RHG21_HUMAN	T	1509;958	ENSP00000379709:S1509T	ENSP00000379709:S1509T	S	-	1	0	ARHGAP21	24914699	0.185000	0.23213	0.000000	0.03702	0.001000	0.01503	0.532000	0.23067	-2.209000	0.00739	-1.373000	0.01185	TCA		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		8	844	0	0	0	1	0	8	844				
GCN1L1	10985	broad.mit.edu	37	12	120576613	120576613	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:120576613C>A	ENST00000300648.6	-	46	6054	c.6042G>T	c.(6040-6042)ttG>ttT	p.L2014F		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2014					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGTCACACAAAGCCTTCC	0.547																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6040-6042)ttG>ttT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							152.0	159.0	157.0					12																	120576613		2080	4220	6300	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120576613C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6042G>T	12.37:g.120576613C>A	ENSP00000300648:p.Leu2014Phe		Somatic					p.L2014F	NM_006836.1	NP_006827.1	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			46	6054	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2014					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6042G>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998324	0.74818	.	.	ENSG00000089154	ENST00000300648	T	0.74632	-0.86	5.95	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	D	0.86948	0.6056	M	0.93939	3.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.85964	0.1472	10	0.87932	D	0	.	8.2962	0.31986	0.0:0.5874:0.2114:0.2012	.	2014	Q92616	GCN1L_HUMAN	F	2014	ENSP00000300648:L2014F	ENSP00000300648:L2014F	L	-	3	2	GCN1L1	119060996	0.828000	0.29307	0.994000	0.49952	0.998000	0.95712	-0.065000	0.11617	0.371000	0.24564	0.655000	0.94253	TTG		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			26	949	1	0	3.08376e-08	1	3.47803e-08	26	949				
CBLC	23624	broad.mit.edu	37	19	45284600	45284600	+	Missense_Mutation	SNP	G	G	C	rs557856786		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:45284600G>C	ENST00000270279.3	+	3	700	c.637G>C	c.(637-639)Gtc>Ctc	p.V213L	CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	213	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V213L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGAGTTCGACGTCTTCACCAG	0.612			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		1	Substitution - Missense(1)	p.V213L(1)	kidney(1)	breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(637-639)Gtc>Ctc		Cbl proto-oncogene C, E3 ubiquitin protein ligase							91.0	71.0	78.0					19																	45284600		2203	4300	6503	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284600G>C	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.637G>C	19.37:g.45284600G>C	ENSP00000270279:p.Val213Leu		Somatic				CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	p.V213L	NM_012116.3	NP_036248.3	WXS	Illumina GAIIx	Phase_I	Q9ULV8	CBLC_HUMAN			3	700	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	213			Cbl-PTB.|EF-hand-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.637G>C	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578086	0.28180	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.90504	-2.67;-2.68	3.78	-1.86	0.07760	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.835370	0.10011	N	0.727160	D	0.84211	0.5422	L	0.37697	1.125	0.36652	D	0.877464	B;B	0.21688	0.029;0.059	B;B	0.21917	0.037;0.024	T	0.73852	-0.3852	10	0.72032	D	0.01	-7.3284	8.5626	0.33520	0.5478:0.0:0.4522:0.0	.	213;213	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	L	213	ENSP00000270279:V213L;ENSP00000340250:V213L	ENSP00000270279:V213L	V	+	1	0	CBLC	49976440	1.000000	0.71417	0.993000	0.49108	0.612000	0.37316	2.506000	0.45433	-0.228000	0.09869	-0.676000	0.03789	GTC		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		52	34	0	0	0	1	0	52	34				
RAB29	8934	broad.mit.edu	37	1	205741655	205741655	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:205741655C>G	ENST00000367139.3	-	3	468	c.165G>C	c.(163-165)gaG>gaC	p.E55D	RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		55					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCGCACTATCTCGTAGTCAG	0.363																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(163-165)gaG>gaC		RAB7, member RAS oncogene family-like 1							154.0	166.0	162.0					1																	205741655		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741655C>G																												ENST00000367139.3:c.165G>C	1.37:g.205741655C>G	ENSP00000356107:p.Glu55Asp		Somatic				RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D	p.E55D	NM_003929.2	NP_003920.1	WXS	Illumina GAIIx	Phase_I	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	468	-	Breast(84;0.0799)		55					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.165G>C	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788275	0.31593	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	1.92	0.25849	Small GTP-binding protein domain (1);	0.205242	0.43110	D	0.000604	T	0.61185	0.2327	N	0.13371	0.34	0.31781	N	0.63084	B	0.06786	0.001	B	0.22386	0.039	T	0.63355	-0.6656	10	0.87932	D	0	-7.8213	10.0975	0.42484	0.0:0.7418:0.0:0.2582	.	55	O14966	RAB7L_HUMAN	D	55	ENSP00000356107:E55D;ENSP00000235932:E55D;ENSP00000402910:E55D	ENSP00000235932:E55D	E	-	3	2	RAB7L1	204008278	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	0.950000	0.29122	0.627000	0.30340	-0.291000	0.09656	GAG		0.363	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			4	496	0	0	0	1	0	4	496				
TRPM8	79054	broad.mit.edu	37	2	234869499	234869499	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:234869499G>A	ENST00000324695.4	+	12	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1441-1443)gGc>gAc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						115.0	101.0	106.0					2																	234869499		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234869499G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1442G>A	2.37:g.234869499G>A	ENSP00000323926:p.Gly481Asp		Somatic				TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	p.G481D	NM_024080.4	NP_076985.4	WXS	Illumina GAIIx	Phase_I	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1482	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	481					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1442G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824141	0.90873	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.87571	-2.27;-2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.90542	3.125	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95387	0.8478	10	0.87932	D	0	-32.5183	18.6269	0.91344	0.0:0.0:1.0:0.0	.	169;481	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	D	481;169	ENSP00000323926:G481D;ENSP00000404423:G169D	ENSP00000323926:G481D	G	+	2	0	TRPM8	234534238	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	8.142000	0.89619	2.735000	0.93741	0.655000	0.94253	GGC		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		5	494	0	0	0	1	0	5	494				
BIRC8	112401	broad.mit.edu	37	19	53793248	53793248	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:53793248T>C	ENST00000426466.1	-	1	1627	c.380A>G	c.(379-381)gAc>gGc	p.D127G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	127					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTTCTTAACGTCCTTGAAATC	0.383																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(379-381)gAc>gGc		baculoviral IAP repeat containing 8							170.0	167.0	168.0					19																	53793248		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793248T>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.380A>G	19.37:g.53793248T>C	ENSP00000412957:p.Asp127Gly		Somatic					p.D127G	NM_033341.4	NP_203127.3	WXS	Illumina GAIIx	Phase_I	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1627	-			127					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.380A>G	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	T	6.121	0.390588	0.11581	.	.	ENSG00000163098	ENST00000426466	T	0.35973	1.28	0.502	0.502	0.16932	.	.	.	.	.	T	0.28101	0.0693	M	0.68317	2.08	0.09310	N	1	P	0.40000	0.698	B	0.32211	0.142	T	0.14448	-1.0472	9	0.36615	T	0.2	-14.7687	5.4107	0.16346	0.0:1.0E-4:0.0:0.9999	.	127	Q96P09	BIRC8_HUMAN	G	127	ENSP00000412957:D127G	ENSP00000412957:D127G	D	-	2	0	BIRC8	58485060	0.120000	0.22244	0.007000	0.13788	0.003000	0.03518	1.796000	0.38794	0.486000	0.27676	0.344000	0.21773	GAC		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		4	212	0	0	0	1	0	4	212				
LIX1L	128077	broad.mit.edu	37	1	145492240	145492240	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145492240C>T	ENST00000369308.3	+	3	536	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000366105.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	154										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAGTTTTGCCCCACAAAAG	0.448																																						ENST00000369308.3																			0				large_intestine(4)|lung(6)|ovary(2)|skin(1)	13						c.(460-462)tgC>tgT		Lix1 homolog (mouse)-like							78.0	80.0	79.0					1																	145492240		2203	4300	6503	SO:0001819	synonymous_variant	128077							g.chr1:145492240C>T	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.462C>T	1.37:g.145492240C>T			Somatic				RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	p.C154C	NM_153713.1	NP_714924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB5	LIX1L_HUMAN			3	536	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		154					Q6AI36	Silent	SNP	ENST00000369308.3	37	c.462C>T	CCDS915.1																																																																																				0.448	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		4	392	0	0	0	1	0	4	392				
GAK	2580	broad.mit.edu	37	4	884397	884397	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:884397T>C	ENST00000314167.4	-	10	1114	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GAK_ENST00000511163.1_Missense_Mutation_p.N256S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	335					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTAGCCTCCATTCTGCTCCAG	0.632																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1003-1005)aAt>aGt		cyclin G associated kinase							31.0	35.0	34.0					4																	884397		2197	4297	6494	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:884397T>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1004A>G	4.37:g.884397T>C	ENSP00000314499:p.Asn335Ser		Somatic				GAK_ENST00000511163.1_Missense_Mutation_p.N256S	p.N335S	NM_005255.2	NP_005246.2	WXS	Illumina GAIIx	Phase_I	O14976	GAK_HUMAN		Colorectal(103;0.219)	10	1114	-			335					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1004A>G	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.379521	0.42207	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.77489	-0.66;-1.1	3.83	3.83	0.44106	Protein kinase-like domain (1);	0.504996	0.17977	U	0.155642	T	0.81856	0.4911	M	0.61703	1.905	0.58432	D	0.999998	P;P;P;D	0.71674	0.852;0.765;0.584;0.998	B;B;B;D	0.66196	0.404;0.351;0.351;0.942	T	0.77816	-0.2447	10	0.07990	T	0.79	-23.5726	11.1976	0.48722	0.0:0.0:0.0:1.0	.	256;256;335;231	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	S	335;256	ENSP00000314499:N335S;ENSP00000421361:N256S	ENSP00000314499:N335S	N	-	2	0	GAK	874397	1.000000	0.71417	0.997000	0.53966	0.273000	0.26683	4.606000	0.61126	1.676000	0.50930	0.459000	0.35465	AAT		0.632	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		2	4	0	0	0	1	0	2	4				
SLC9A9	285195	broad.mit.edu	37	3	143297454	143297454	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:143297454C>A	ENST00000316549.6	-	7	1075	c.867G>T	c.(865-867)ggG>ggT	p.G289G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	289					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G289G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATACGCAGACCCCATTGCAA	0.458																																						ENST00000316549.6																			1	Substitution - coding silent(1)	p.G289G(1)	kidney(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(865-867)ggG>ggT		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							111.0	105.0	107.0					3																	143297454		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143297454C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.867G>T	3.37:g.143297454C>A			Somatic					p.G289G	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			7	1075	-			289					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.867G>T	CCDS33872.1																																																																																				0.458	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		33	357	1	0	3.78316e-11	1	4.34623e-11	33	357				
BICD1	636	broad.mit.edu	37	12	32369279	32369279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:32369279C>A	ENST00000281474.5	+	2	415	c.312C>A	c.(310-312)taC>taA	p.Y104*	BICD1_ENST00000548411.1_Nonsense_Mutation_p.Y104*	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	104					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGGCTTACTATCTGGGGA	0.547																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(310-312)taC>taA		bicaudal D homolog 1 (Drosophila)							114.0	106.0	109.0					12																	32369279		2203	4300	6503	SO:0001587	stop_gained	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369279C>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.312C>A	12.37:g.32369279C>A	ENSP00000281474:p.Tyr104*		Somatic				BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104*	p.Y104*	NM_001003398.1	NP_001003398.1	WXS	Illumina GAIIx	Phase_I	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	493	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		104					A8K2C3|F8W113|O43892|O43893	Nonsense_Mutation	SNP	ENST00000281474.5	37	c.312C>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823051	0.96989	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	.	.	.	5.55	3.72	0.42706	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.8125	0.46555	0.0:0.7105:0.0:0.2895	.	.	.	.	X	104	.	ENSP00000281474:Y104X	Y	+	3	2	BICD1	32260546	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	0.375000	0.20518	0.316000	0.23135	-0.797000	0.03246	TAC		0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		10	188	1	0	0.000442599	1	0.000467188	10	188				
COPS4	51138	broad.mit.edu	37	4	83970374	83970374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:83970374C>A	ENST00000264389.2	+	3	345	c.210C>A	c.(208-210)tgC>tgA	p.C70*	COPS4_ENST00000509093.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	70					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.C70*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTGATTTTTGCACACATCTTC	0.383																																						ENST00000509093.1																			1	Substitution - Nonsense(1)	p.C70*(1)	kidney(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(208-210)tgC>tgA		COP9 signalosome subunit 4							117.0	110.0	112.0					4																	83970374		2203	4300	6503	SO:0001587	stop_gained	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83970374C>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.210C>A	4.37:g.83970374C>A	ENSP00000264389:p.Cys70*		Somatic				COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	p.C70*	NM_001258006.1	NP_001244935.1	WXS	Illumina GAIIx	Phase_I	Q9BT78	CSN4_HUMAN			3	988	+		Hepatocellular(203;0.114)	70					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	c.210C>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523232	0.64747	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	.	.	.	5.69	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3895	6.9106	0.24333	0.0:0.5989:0.0:0.4011	.	.	.	.	X	70	.	ENSP00000264389:C70X	C	+	3	2	COPS4	84189398	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.418000	0.44662	0.718000	0.32166	-0.236000	0.12185	TGC		0.383	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			18	62	1	0	1.50039e-11	1	1.73176e-11	18	62				
OR52A1	23538	broad.mit.edu	37	11	5172907	5172907	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5172907C>A	ENST00000380367.1	-	2	1110	c.693G>T	c.(691-693)ttG>ttT	p.L231F	OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	231					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTGGGGCAAACGAAAAA	0.428																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(691-693)ttG>ttT		olfactory receptor, family 52, subfamily A, member 1							170.0	156.0	161.0					11																	5172907		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172907C>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.693G>T	11.37:g.5172907C>A	ENSP00000369725:p.Leu231Phe		Somatic				OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F	p.L231F			WXS	Illumina GAIIx	Phase_I	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1110	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	231					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.693G>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128613	0.37533	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00152	8.66;8.66	5.33	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001215	T	0.00412	0.0013	M	0.89214	3.015	0.30593	N	0.761365	D	0.89917	1.0	D	0.97110	1.0	T	0.20672	-1.0268	10	0.72032	D	0.01	.	3.4927	0.07644	0.1394:0.5687:0.1354:0.1565	.	231	Q9UKL2	O52A1_HUMAN	F	231	ENSP00000369725:L231F;ENSP00000333684:L231F	ENSP00000333684:L231F	L	-	3	2	OR52A1	5129483	0.000000	0.05858	0.992000	0.48379	0.157000	0.22087	-1.224000	0.02959	1.505000	0.48720	-0.145000	0.13849	TTG		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		15	199	1	0	0.00316338	1	0.00326927	15	199				
KLRB1	3820	broad.mit.edu	37	12	9747902	9747902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:9747902G>T	ENST00000229402.3	-	6	692	c.646C>A	c.(646-648)Cct>Act	p.P216T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	216					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						TTTCTCACAGGTGTTAGTTCT	0.373																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(646-648)Cct>Act		killer cell lectin-like receptor subfamily B, member 1							181.0	163.0	170.0					12																	9747902		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9747902G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.646C>A	12.37:g.9747902G>T	ENSP00000229402:p.Pro216Thr		Somatic					p.P216T	NM_002258.2	NP_002249.1	WXS	Illumina GAIIx	Phase_I	Q12918	KLRB1_HUMAN			6	692	-			216					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.646C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	.	3.422	-0.117947	0.06838	.	.	ENSG00000111796	ENST00000229402	T	0.31247	1.5	3.24	-3.58	0.04597	C-type lectin fold (1);	.	.	.	.	T	0.15522	0.0374	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.32375	-0.9909	9	0.19147	T	0.46	0.4109	0.1719	0.00114	0.2929:0.1475:0.2594:0.3002	.	216	Q12918	KLRB1_HUMAN	T	216	ENSP00000229402:P216T	ENSP00000229402:P216T	P	-	1	0	KLRB1	9639169	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.944000	0.03913	-0.885000	0.03971	-0.830000	0.03078	CCT		0.373	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		8	283	1	0	1.06961e-07	1	1.19545e-07	8	283				
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.e53-2		CUB and Sushi multiple domains 1							88.0	85.0	86.0					8																	2876174		1863	4099	5962	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2876174T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7859-2A>T	8.37:g.2876174T>A			Somatic				CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000602723.1_Intron				WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8414	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	T	14.05	2.420236	0.42918	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9954	0.71428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2863581	1.000000	0.71417	0.703000	0.30354	0.290000	0.27261	7.785000	0.85724	2.001000	0.58596	0.533000	0.62120	.		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	6	123	0	0	0	1	0	6	123				
ANKRD42	338699	broad.mit.edu	37	11	82905759	82905759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:82905759C>T	ENST00000393392.2	+	1	209	c.47C>T	c.(46-48)aCt>aTt	p.T16I	ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393389.3_Missense_Mutation_p.T16I|RP11-727A23.5_ENST00000500634.2_RNA|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000528722.1_Intron	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	16					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T16I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGGAGACTGCAAACCCC	0.572																																						ENST00000393389.3																			1	Substitution - Missense(1)	p.T16I(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(46-48)aCt>aTt		ankyrin repeat domain 42							125.0	108.0	114.0					11																	82905759		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82905759C>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.47C>T	11.37:g.82905759C>T	ENSP00000377051:p.Thr16Ile		Somatic				ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I	p.T16I			WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			1	979	+			16					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.47C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256603	0.22965	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.69926	-0.35;-0.41;-0.44;-0.31;-0.26;-0.33	3.46	0.371	0.16168	Ankyrin repeat-containing domain (1);	1.033460	0.07703	N	0.940834	T	0.54919	0.1888	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.30763	0.085;0.034;0.294;0.011;0.035	B;B;B;B;B	0.22152	0.016;0.036;0.038;0.004;0.011	T	0.36962	-0.9726	9	.	.	.	.	6.7008	0.23225	0.1935:0.4301:0.3765:0.0	.	16;16;281;107;16	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	I	335;16;16;16;16;16;16	ENSP00000377049:T16I;ENSP00000260047:T16I;ENSP00000433585:T16I;ENSP00000434666:T16I;ENSP00000377051:T16I;ENSP00000435790:T16I	.	T	+	2	0	ANKRD42	82583407	0.072000	0.21174	0.001000	0.08648	0.008000	0.06430	0.850000	0.27737	0.086000	0.17137	-0.176000	0.13171	ACT		0.572	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		27	79	0	0	0	1	0	27	79				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T			Somatic				EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina GAIIx	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	77	0	0	0	1	0	4	77				
SIPA1L2	57568	broad.mit.edu	37	1	232650730	232650730	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:232650730C>G	ENST00000366630.1	-	2	714	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	119					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S119T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCTGGTCACTCTGCCCATT	0.502																																						ENST00000366630.1																			1	Substitution - Missense(1)	p.S119T(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(355-357)aGt>aCt		signal-induced proliferation-associated 1 like 2							150.0	146.0	147.0					1																	232650730		2049	4219	6268	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650730C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.356G>C	1.37:g.232650730C>G	ENSP00000355589:p.Ser119Thr		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T	p.S119T			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	714	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	119					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.356G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888248	0.02511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78816	-1.21;-1.21	5.19	0.389	0.16269	.	0.475434	0.23684	N	0.045600	T	0.58991	0.2161	N	0.22421	0.69	0.09310	N	0.999999	B	0.14012	0.009	B	0.17098	0.017	T	0.40136	-0.9579	10	0.18710	T	0.47	-18.0713	8.5864	0.33660	0.0:0.3069:0.0:0.6931	.	119	Q9P2F8	SI1L2_HUMAN	T	119	ENSP00000355589:S119T;ENSP00000262861:S119T	ENSP00000262861:S119T	S	-	2	0	SIPA1L2	230717353	0.019000	0.18553	0.021000	0.16686	0.866000	0.49608	0.163000	0.16520	-0.086000	0.12550	-0.312000	0.09012	AGT		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		45	185	0	0	0	1	0	45	185				
ERICH1	157697	broad.mit.edu	37	8	623839	623839	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:623839A>T	ENST00000262109.7	-	4	590	c.513T>A	c.(511-513)atT>atA	p.I171I	ERICH1_ENST00000522706.1_Silent_p.I77I|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTTTTAATTTGCTGTT	0.473																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(511-513)atT>atA		glutamate-rich 1							62.0	68.0	66.0					8																	623839		2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:623839A>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.513T>A	8.37:g.623839A>T			Somatic				ERICH1_ENST00000522706.1_Silent_p.I77I	p.I171I	NM_207332.1	NP_997215.1	WXS	Illumina GAIIx	Phase_I	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	590	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	171					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.513T>A	CCDS5955.1																																																																																				0.473	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		5	48	0	0	0	1	0	5	48				
PLCB4	5332	broad.mit.edu	37	20	9424626	9424626	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:9424626A>T	ENST00000378493.1	+	27	2743		c.e27-1		PLCB4_ENST00000378501.2_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTGTTTAGGTATTGAAC	0.308																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.e27-1		phospholipase C, beta 4							98.0	97.0	97.0					20																	9424626		2203	4297	6500	SO:0001630	splice_region_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424626A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2729-1A>T	20.37:g.9424626A>T			Somatic				PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site		NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			27	2743	+								B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	SNP	ENST00000378493.1	37		CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061594	0.76187	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7086	0.77606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB4	9372626	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	8.382000	0.90154	2.113000	0.64589	0.528000	0.53228	.		0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		Intron	6	144	0	0	0	1	0	6	144				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_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_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_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		8	459	0	0	0	1	0	8	459				
PCDHA8	56140	broad.mit.edu	37	5	140222940	140222940	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140222940G>A	ENST00000531613.1	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAAGCGTCATCGAGGC	0.632																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2032-2034)gcG>gcA									67.0	66.0	66.0					5																	140222940		2196	4266	6462	SO:0001819	synonymous_variant	56140							g.chr5:140222940G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2034G>A	5.37:g.140222940G>A			Somatic				PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A678A	NM_018911.2	NP_061734.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2034	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2034G>A	CCDS54919.1																																																																																				0.632	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		3	48	0	0	0	1	0	3	48				
RTN4	57142	broad.mit.edu	37	2	55253832	55253832	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:55253832T>G	ENST00000337526.6	-	3	1646	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	468					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.N262T(1)|p.N468T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTGCTGGGTTAAAGGGAGC	0.378																																						ENST00000337526.6																			2	Substitution - Missense(2)	p.N262T(1)|p.N468T(1)	kidney(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1402-1404)aAc>aCc		reticulon 4							152.0	142.0	145.0					2																	55253832		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253832T>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1403A>C	2.37:g.55253832T>G	ENSP00000337838:p.Asn468Thr		Somatic				RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron	p.N468T	NM_020532.4	NP_065393.1	WXS	Illumina GAIIx	Phase_I	Q9NQC3	RTN4_HUMAN			3	1646	-			468					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1403A>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	7.278	0.608553	0.14002	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17528	2.27;2.27;2.4;2.27;2.27;2.27	6.06	-3.71	0.04424	.	0.896264	0.09813	N	0.752522	T	0.09379	0.0231	L	0.31294	0.92	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.39313	-0.9620	10	0.19147	T	0.46	-0.049	6.0788	0.19931	0.0:0.3465:0.2497:0.4038	.	468	Q9NQC3	RTN4_HUMAN	T	262;262;468;262;262;236	ENSP00000384471:N262T;ENSP00000349944:N262T;ENSP00000337838:N468T;ENSP00000378109:N262T;ENSP00000385650:N262T;ENSP00000346465:N236T	ENSP00000337838:N468T	N	-	2	0	RTN4	55107336	0.962000	0.33011	0.009000	0.14445	0.749000	0.42624	0.050000	0.14120	-0.909000	0.03852	0.528000	0.53228	AAC		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			11	158	0	0	0	1	0	11	158				
ZNF134	7693	broad.mit.edu	37	19	58132522	58132522	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:58132522G>T	ENST00000396161.5	+	3	1345	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGCCGTTTGAGTGCATTGAAT	0.428																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(1033-1035)gaG>gaT		zinc finger protein 134							167.0	167.0	167.0					19																	58132522		2134	4269	6403	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132522G>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1035G>T	19.37:g.58132522G>T	ENSP00000379464:p.Glu345Asp		Somatic					p.E345D	NM_003435.3	NP_003426.3	WXS	Illumina GAIIx	Phase_I	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1345	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	345					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1035G>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469106	0.26423	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.22134	1.97	4.52	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	L	0.48642	1.525	0.09310	N	0.999992	P	0.43231	0.801	B	0.41036	0.346	T	0.19778	-1.0295	9	0.66056	D	0.02	.	6.1954	0.20548	0.5199:0.2144:0.2656:0.0	.	345	P52741	ZN134_HUMAN	D	412;265;345	ENSP00000379464:E345D	ENSP00000379464:E345D	E	+	3	2	ZNF134	62824334	.	.	0.877000	0.34402	0.451000	0.32288	.	.	-0.213000	0.10094	-0.880000	0.02959	GAG		0.428	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		5	432	1	0	0.000602214	1	0.000627624	5	432				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	74	0	0	0	1	0	4	74				
BRCA2	675	broad.mit.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:32910986G>A	ENST00000380152.3	+	11	2727	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E832K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		2	Substitution - Missense(2)	p.E832K(2)	kidney(2)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2494-2496)Gag>Aag	Homologous recombination	breast cancer 2, early onset							57.0	60.0	59.0					13																	32910986		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910986G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2494G>A	13.37:g.32910986G>A	ENSP00000369497:p.Glu832Lys	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K	p.E832K	NM_000059.3	NP_000050.2	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2721	+		Lung SC(185;0.0262)	832			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.2494G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117532	0.20877	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.67345	-0.26;-0.26	5.58	2.78	0.32641	.	0.812302	0.11148	N	0.594480	T	0.49541	0.1563	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.33650	-0.9860	10	0.23891	T	0.37	.	8.0201	0.30404	0.164:0.3361:0.4999:0.0	.	832	P51587	BRCA2_HUMAN	K	832	ENSP00000369497:E832K;ENSP00000439902:E832K	ENSP00000369497:E832K	E	+	1	0	BRCA2	31808986	0.394000	0.25246	0.003000	0.11579	0.042000	0.13812	1.408000	0.34668	0.692000	0.31613	0.591000	0.81541	GAG		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	51	0	0	0	1	0	7	51				
EVA1C	59271	broad.mit.edu	37	21	33840085	33840085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:33840085C>T	ENST00000300255.2	+	4	1036	c.563C>T	c.(562-564)tCt>tTt	p.S188F	EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	188	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AACATCTACTCTGCGACCTAC	0.483																																						ENST00000300255.2																			0											c.(562-564)tCt>tTt		eva-1 homolog C (C. elegans)							89.0	72.0	78.0					21																	33840085		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33840085C>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.563C>T	21.37:g.33840085C>T	ENSP00000300255:p.Ser188Phe		Somatic				EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	p.S188F	NM_058187.3	NP_478067.2	WXS	Illumina GAIIx	Phase_I					4	1036	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.563C>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107685	0.77096	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.16897	2.31;2.85;2.31;2.31	5.61	3.7	0.42460	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.243845	0.42821	N	0.000657	T	0.24509	0.0594	L	0.31420	0.93	0.48236	D	0.999615	D;D;D	0.57899	0.981;0.976;0.972	P;P;P	0.61658	0.892;0.879;0.646	T	0.01476	-1.1345	10	0.52906	T	0.07	-16.4419	11.0911	0.48117	0.0:0.8016:0.1286:0.0698	.	188;188;188	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	F	188;188;188;93	ENSP00000300255:S188F;ENSP00000384594:S188F;ENSP00000372146:S188F;ENSP00000389269:S93F	ENSP00000300255:S188F	S	+	2	0	C21orf63	32761956	0.984000	0.35163	0.893000	0.35052	0.939000	0.58152	2.712000	0.47186	1.400000	0.46741	-0.156000	0.13503	TCT		0.483	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		6	105	0	0	0	1	0	6	105				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T			Somatic				RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site				WXS	Illumina GAIIx	Phase_I					2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	4	144	0	0	0	1	0	4	144				
CCDC122	160857	broad.mit.edu	37	13	44433878	44433878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:44433878A>T	ENST00000444614.3	-	5	743	c.485T>A	c.(484-486)tTa>tAa	p.L162*	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CATTGTCTTTAATTTTTTAAC	0.318																																						ENST00000444614.3																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(484-486)tTa>tAa		coiled-coil domain containing 122							111.0	111.0	111.0					13																	44433878		2203	4296	6499	SO:0001587	stop_gained	160857							g.chr13:44433878A>T	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.485T>A	13.37:g.44433878A>T	ENSP00000407763:p.Leu162*		Somatic				CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR	p.L162*	NM_144974.3	NP_659411.2	WXS	Illumina GAIIx	Phase_I	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	5	743	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	162					B2RP70|B7ZMI9|Q96MV0	Nonsense_Mutation	SNP	ENST00000444614.3	37	c.485T>A	CCDS9390.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163788	0.78226	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	.	.	.	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.389	15.3077	0.74004	1.0:0.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000281508:L162X	L	-	2	0	CCDC122	43331878	1.000000	0.71417	0.919000	0.36401	0.073000	0.16967	6.394000	0.73223	2.201000	0.70794	0.477000	0.44152	TTA		0.318	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		4	74	0	0	0	1	0	4	74				
DNAH5	1767	broad.mit.edu	37	5	13766201	13766201	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:13766201G>A	ENST00000265104.4	-	59	10089	c.9985C>T	c.(9985-9987)Ctg>Ttg	p.L3329L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3329	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)					CTTTGAAACAGCAGCAGTACG	0.517									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.(9985-9987)Ctg>Ttg		dynein, axonemal, heavy chain 5							119.0	115.0	117.0					5																	13766201		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766201G>A	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.9985C>T	5.37:g.13766201G>A			Somatic				DNAH5_ENST00000504001.3_Intron	p.L3329L	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10089	-	Lung NSC(4;0.00476)		3329			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9985C>T	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	273	0	0	0	1	0	4	273				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	251	0	0	0	1	0	4	251				
ZNF236	7776	broad.mit.edu	37	18	74659521	74659521	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:74659521C>T	ENST00000253159.8	+	27	5019	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G	ZNF236_ENST00000320610.9_Silent_p.G1609G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1607					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCTCGGGCCAGGGTGGAG	0.507																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4819-4821)ggC>ggT		zinc finger protein 236							59.0	69.0	66.0					18																	74659521		2135	4246	6381	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74659521C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4821C>T	18.37:g.74659521C>T			Somatic				ZNF236_ENST00000320610.9_Silent_p.G1609G	p.G1607G	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	27	5019	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1607					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.4821C>T	CCDS42447.1																																																																																				0.507	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	296	0	0	0	1	0	4	296				
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453																																						ENST00000258169.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(445-447)atT>atA		M-phase phosphoprotein 6							260.0	219.0	233.0					16																	82182372		2201	4300	6501	SO:0001819	synonymous_variant	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182372A>T	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.447T>A	16.37:g.82182372A>T			Somatic				MPHOSPH6_ENST00000563504.1_Silent_p.I120I	p.I149I	NM_005792.2	NP_005783.2	WXS	Illumina GAIIx	Phase_I	Q99547	MPH6_HUMAN			5	497	-			149					B2RAF0	Silent	SNP	ENST00000258169.4	37	c.447T>A	CCDS10937.1																																																																																				0.453	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		8	278	0	0	0	1	0	8	278				
ABCA5	23461	broad.mit.edu	37	17	67302932	67302932	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:67302932A>T	ENST00000392676.3	-	6	786	c.722T>A	c.(721-723)gTa>gAa	p.V241E	ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E|ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	241					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTTTCTGCTACGATATGAAT	0.269																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(721-723)gTa>gAa		ATP-binding cassette, sub-family A (ABC1), member 5							28.0	30.0	29.0					17																	67302932		2193	4288	6481	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302932A>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.722T>A	17.37:g.67302932A>T	ENSP00000376443:p.Val241Glu		Somatic				ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E|ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E	p.V241E			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			6	786	-	Breast(10;3.72e-11)		241					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.722T>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856252	0.71834	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89552	-2.53;-2.53	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000063	D	0.94115	0.8113	M	0.80746	2.51	0.52099	D	0.999944	D;D	0.76494	0.998;0.999	D;D	0.74674	0.962;0.984	D	0.94328	0.7559	9	.	.	.	.	14.9434	0.71012	1.0:0.0:0.0:0.0	.	241;241	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	E	241	ENSP00000376444:V241E;ENSP00000376443:V241E	.	V	-	2	0	ABCA5	64814527	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.748000	0.62148	1.907000	0.55213	0.533000	0.62120	GTA		0.269	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		6	44	0	0	0	1	0	6	44				
PCDHA1	56147	broad.mit.edu	37	5	140167893	140167893	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140167893G>A	ENST00000504120.2	+	1	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGAGCGGCCAGGCGCCA	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2017-2019)gGc>gAc									42.0	47.0	45.0					5																	140167893		2201	4300	6501	SO:0001583	missense	56147							g.chr5:140167893G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2018G>A	5.37:g.140167893G>A	ENSP00000420840:p.Gly673Asp		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron	p.G673D	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2018	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2018G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238767	0.22711	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52295	0.69;0.67	3.89	3.01	0.34805	Cadherin (2);	0.372159	0.19064	U	0.123692	T	0.27205	0.0667	N	0.01640	-0.785	0.20703	N	0.999866	P;P	0.45283	0.855;0.827	P;P	0.48677	0.461;0.586	T	0.10870	-1.0611	10	0.42905	T	0.14	.	9.5858	0.39514	0.0:0.2426:0.7574:0.0	.	673;673	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	D	673	ENSP00000420840:G673D;ENSP00000367373:G673D	ENSP00000367373:G673D	G	+	2	0	PCDHA1	140148077	0.094000	0.21725	0.154000	0.22540	0.008000	0.06430	1.230000	0.32612	0.723000	0.32274	-0.219000	0.12488	GGC		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		3	24	0	0	0	1	0	3	24				
NOMO1	23420	broad.mit.edu	37	16	14982971	14982971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:14982971G>A	ENST00000287667.7	+	29	3514	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1115						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTGCTTCTGGACTCCACACT	0.433																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3343-3345)Gac>Aac		NODAL modulator 1							129.0	137.0	134.0					16																	14982971		2191	4293	6484	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14982971G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3343G>A	16.37:g.14982971G>A	ENSP00000287667:p.Asp1115Asn		Somatic					p.D1115N	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			29	3514	+			1115					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3343G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314842	0.60524	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.34072	1.38	3.34	3.34	0.38264	.	0.057206	0.64402	D	0.000001	T	0.25827	0.0629	L	0.40543	1.245	0.53688	D	0.999972	P	0.42827	0.791	B	0.35114	0.196	T	0.06862	-1.0803	10	0.33141	T	0.24	-27.3248	12.2712	0.54708	0.0:0.0:1.0:0.0	.	1115	Q15155	NOMO1_HUMAN	N	1115;1115;948	ENSP00000287667:D1115N	ENSP00000287667:D1115N	D	+	1	0	NOMO1	14890472	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.608000	0.67654	1.701000	0.51217	0.398000	0.26397	GAC		0.433	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			17	1646	0	0	0	1	0	17	1646				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Somatic					p.L32F	NM_001005212.3	NP_001005212.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		11	527	0	0	0	1	0	11	527				
SART1	9092	broad.mit.edu	37	11	65746286	65746286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:65746286G>A	ENST00000312397.5	+	19	2377	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	762					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGAGCTCCAGCGACACGCCC	0.672																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2284-2286)aGc>aAc		squamous cell carcinoma antigen recognized by T cells							72.0	83.0	79.0					11																	65746286		2201	4296	6497	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65746286G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2285G>A	11.37:g.65746286G>A	ENSP00000310448:p.Ser762Asn		Somatic					p.S762N	NM_005146.4	NP_005137.1	WXS	Illumina GAIIx	Phase_I	O43290	SNUT1_HUMAN			19	2377	+			762					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.2285G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306054	0.81247	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24538	1.85	4.76	4.76	0.60689	.	0.053996	0.64402	D	0.000001	T	0.24005	0.0581	N	0.19112	0.55	0.58432	D	0.999999	P	0.49185	0.92	P	0.47299	0.543	T	0.04053	-1.0981	10	0.87932	D	0	-25.1842	15.3127	0.74048	0.0:0.0:1.0:0.0	.	762	O43290	SNUT1_HUMAN	N	762;604	ENSP00000310448:S762N	ENSP00000310448:S762N	S	+	2	0	SART1	65502862	1.000000	0.71417	0.997000	0.53966	0.497000	0.33675	8.836000	0.92105	2.483000	0.83821	0.491000	0.48974	AGC		0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			5	622	0	0	0	1	0	5	622				
C17orf58	284018	broad.mit.edu	37	17	65989118	65989118	+	Intron	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:65989118T>C	ENST00000449250.2	-	2	293				RP11-855A2.5_ENST00000580729.1_lincRNA|C17orf58_ENST00000536693.1_Missense_Mutation_p.T49A|C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58											lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAACGGTGGTATAAAGTACA	0.498																																						ENST00000536693.1																			0				lung(2)	2						c.(145-147)Acc>Gcc		chromosome 17 open reading frame 58							72.0	72.0	72.0					17																	65989118		1906	4125	6031	SO:0001627	intron_variant	284018							g.chr17:65989118T>C	AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.103+41A>G	17.37:g.65989118T>C			Somatic				C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A|C17orf58_ENST00000449250.2_Intron	p.T49A			WXS	Illumina GAIIx	Phase_I	Q2M2W7	CQ058_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	550	-	all_cancers(12;4.57e-10)		0					A8MQV2	Missense_Mutation	SNP	ENST00000449250.2	37	c.145A>G	CCDS45765.1	.	.	.	.	.	.	.	.	.	.	T	8.794	0.931250	0.18131	.	.	ENSG00000186665	ENST00000334461;ENST00000536693	.	.	.	2.53	-1.42	0.08913	.	0.256774	0.31495	N	0.007558	T	0.23806	0.0576	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09122	-1.0689	8	0.37606	T	0.19	.	5.8087	0.18454	0.0:0.4556:0.0:0.5444	.	49	Q2M2W7-2	.	A	49	.	ENSP00000334741:T49A	T	-	1	0	C17orf58	63419580	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.846000	0.04336	-0.262000	0.09392	-0.407000	0.06327	ACC		0.498	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448104.1	NM_181656		3	67	0	0	0	1	0	3	67				
SELP	6403	broad.mit.edu	37	1	169565309	169565309	+	Missense_Mutation	SNP	G	G	C	rs200005956		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:169565309G>C	ENST00000263686.6	-	12	1992	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	652	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACAGTACATGGTTCCCTGCCC	0.502																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1954-1956)aCc>aGc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						244.0	243.0	243.0					1																	169565309		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565309G>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1955C>G	1.37:g.169565309G>C	ENSP00000263686:p.Thr652Ser		Somatic				SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S|SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S	p.T652S	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	P16109	LYAM3_HUMAN			12	1992	-	all_hematologic(923;0.208)		652			Sushi 8.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1955C>G	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.294|8.294	0.818317|0.818317	0.16607|0.16607	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.22|4.22	3.29|3.29	0.37713|0.37713	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.554792	.|0.17245	.|N	.|0.181400	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.25060|0.25060	0.705|0.705	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.48162	.|0.118;0.056;0.906	.|B;B;P	.|0.47134	.|0.129;0.088;0.539	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.07644	.|T	.|0.81	-7.1005|-7.1005	10.1203|10.1203	0.42616|0.42616	0.0:0.2038:0.7962:0.0|0.0:0.2038:0.7962:0.0	.|.	.|652;652;652	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	K|S	467|466;652;651;468;652;652;590;590;468;466;590;590;575	.|ENSP00000263686:T652S;ENSP00000356767:T590S;ENSP00000356768:T590S;ENSP00000356766:T468S;ENSP00000356765:T466S;ENSP00000356762:T590S;ENSP00000356760:T590S	.|ENSP00000263686:T652S	N|T	-|-	3|2	2|0	SELP|SELP	167831933|167831933	0.000000|0.000000	0.05858|0.05858	0.794000|0.794000	0.32065|0.32065	0.334000|0.334000	0.28698|0.28698	0.202000|0.202000	0.17295|0.17295	1.096000|1.096000	0.41439|0.41439	0.563000|0.563000	0.77884|0.77884	AAC|ACC		0.502	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		5	625	0	0	0	1	0	5	625				
SREBF2	6721	broad.mit.edu	37	22	42276720	42276720	+	Splice_Site	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:42276720G>T	ENST00000361204.4	+	10	1928	c.1762G>T	c.(1762-1764)Gga>Tga	p.G588*		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	588					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACTTTGTAGGGAGATTTTGC	0.542																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e10-1		sterol regulatory element binding transcription factor 2							75.0	86.0	82.0					22																	42276720		2203	4300	6503	SO:0001630	splice_region_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42276720G>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1762-1G>T	22.37:g.42276720G>T			Somatic					p.G588_splice	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			10	1928	+			588					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Splice_Site	SNP	ENST00000361204.4	37	c.1761_splice	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.498181|7.498181	0.98322|0.98322	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000361204;ENST00000457567|ENST00000444813	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74137	.|0.3677	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73811	.|-0.3865	.|3	.|.	.|.	.|.	-16.0187|-16.0187	18.1685|18.1685	0.89736|0.89736	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	588|621	.|.	.|.	G|R	+|+	1|2	0|0	SREBF2|SREBF2	40606666|40606666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.799000|0.799000	0.45148|0.45148	9.568000|9.568000	0.98166|0.98166	2.292000|2.292000	0.77174|0.77174	0.478000|0.478000	0.44815|0.44815	GGA|AGG		0.542	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	Nonsense_Mutation	5	441	1	0	0.000602214	1	0.000627624	5	441				
RAB5B	5869	broad.mit.edu	37	12	56383757	56383757	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56383757C>T	ENST00000360299.5	+	3	411	c.190C>T	c.(190-192)Cta>Tta	p.L64L	RAB5B_ENST00000448789.2_Silent_p.L64L|RAB5B_ENST00000553116.1_Silent_p.L64L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	64					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTCCGTTTGTCTAGATGACAC	0.532																																						ENST00000360299.5																			0				endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(190-192)Cta>Tta		RAB5B, member RAS oncogene family							174.0	149.0	157.0					12																	56383757		2203	4300	6503	SO:0001819	synonymous_variant	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56383757C>T		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.190C>T	12.37:g.56383757C>T			Somatic				RAB5B_ENST00000553116.1_Silent_p.L64L|RAB5B_ENST00000448789.2_Silent_p.L64L	p.L64L	NM_002868.3	NP_002859.1	WXS	Illumina GAIIx	Phase_I	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		3	411	+			64					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Silent	SNP	ENST00000360299.5	37	c.190C>T	CCDS8900.1																																																																																				0.532	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			4	317	0	0	0	1	0	4	317				
ANKRD27	84079	broad.mit.edu	37	19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(451-453)Cga>Tga		ankyrin repeat domain 27 (VPS9 domain)							271.0	271.0	271.0					19																	33135305		2203	4300	6503	SO:0001587	stop_gained	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135305G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.451C>T	19.37:g.33135305G>A	ENSP00000304292:p.Arg151*		Somatic				ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	p.R151*	NM_032139.2	NP_115515.2	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			5	609	-	Esophageal squamous(110;0.137)		151					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	c.451C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903422	0.92035	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.61	3.46	0.39613	.	0.349077	0.26362	N	0.024811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2186	12.4471	0.55657	0.0:0.0:0.2771:0.7229	.	.	.	.	X	151	.	ENSP00000304292:R151X	R	-	1	2	ANKRD27	37827145	1.000000	0.71417	0.221000	0.23827	0.277000	0.26821	3.326000	0.52037	0.398000	0.25338	-0.538000	0.04264	CGA		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	1176	0	0	0	1	0	8	1176				
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					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)					TTCTGTTTTTAATTTAGCATC	0.299																																						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.(2206-2208)tTa>tAa		ATP-binding cassette, sub-family A (ABC1), member 6							85.0	86.0	85.0					17																	67107007		2202	4298	6500	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67107007A>T	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.2207T>A	17.37:g.67107007A>T	ENSP00000284425:p.Leu736*		Somatic					p.L736*	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			17	2381	-	Breast(10;5.65e-12)		736					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.2207T>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066029	0.98040	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.06	5.06	0.68205	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1378	0.65297	1.0:0.0:0.0:0.0	.	.	.	.	X	736	.	ENSP00000284425:L736X	L	-	2	0	ABCA6	64618602	0.269000	0.24143	0.995000	0.50966	0.324000	0.28378	5.117000	0.64667	2.109000	0.64355	0.455000	0.32223	TTA		0.299	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	121	0	0	0	1	0	4	121				
KCNA1	3736	broad.mit.edu	37	12	5021920	5021920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:5021920A>G	ENST00000382545.3	+	2	2483	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	459					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GAGATCGAAGAGGATATGAAT	0.458																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1375-1377)gAg>gGg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						186.0	181.0	183.0					12																	5021920		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021920A>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1376A>G	12.37:g.5021920A>G	ENSP00000371985:p.Glu459Gly		Somatic				KCNA1_ENST00000543874.2_Intron	p.E459G	NM_000217.2	NP_000208.2	WXS	Illumina GAIIx	Phase_I	Q09470	KCNA1_HUMAN			2	2483	+			459					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1376A>G	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611283	0.46631	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97209	-4.29	5.35	5.35	0.76521	.	0.110120	0.64402	D	0.000012	D	0.95620	0.8576	M	0.64567	1.98	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	D	0.93248	0.6632	10	0.42905	T	0.14	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	459	Q09470	KCNA1_HUMAN	G	459	ENSP00000371985:E459G	ENSP00000228858:E459G	E	+	2	0	KCNA1	4892181	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAG		0.458	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		4	307	0	0	0	1	0	4	307				
WFDC8	90199	broad.mit.edu	37	20	44181832	44181832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:44181832G>A	ENST00000357199.4	-	5	607	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	177	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTGTCTGTCTGGGGACAATCG	0.473																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(529-531)Cag>Tag		WAP four-disulfide core domain 8							141.0	116.0	124.0					20																	44181832		2203	4300	6503	SO:0001587	stop_gained	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181832G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.529C>T	20.37:g.44181832G>A	ENSP00000361735:p.Gln177*		Somatic				WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	p.Q177*	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			5	607	-		Myeloproliferative disorder(115;0.0122)	177			WAP 2.		E1P623|Q5TDV2|Q96A34	Nonsense_Mutation	SNP	ENST00000357199.4	37	c.529C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029325	0.19512	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	.	.	.	4.91	-9.81	0.00487	.	2.618950	0.00964	N	0.003149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	4.7215	0.12920	0.0883:0.1321:0.2465:0.533	.	.	.	.	X	177	.	ENSP00000289953:Q177X	Q	-	1	0	WFDC8	43615246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.406000	0.00125	-2.428000	0.00559	-1.193000	0.01689	CAG		0.473	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			4	368	0	0	0	1	0	4	368				
NOB1	28987	broad.mit.edu	37	16	69782875	69782875	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:69782875A>G	ENST00000268802.5	-	6	701	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	224					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGGACGTCACACTGCTCCA	0.597																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(670-672)tgT>tgC		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							90.0	65.0	74.0					16																	69782875		2198	4300	6498	SO:0001819	synonymous_variant	28987					nucleus	metal ion binding|protein binding	g.chr16:69782875A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.672T>C	16.37:g.69782875A>G			Somatic					p.C224C	NM_014062.1	NP_054781.1	WXS	Illumina GAIIx	Phase_I	Q9ULX3	NOB1_HUMAN			6	701	-			224					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	c.672T>C	CCDS10884.1																																																																																				0.597	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		4	91	0	0	0	1	0	4	91				
POLE	5426	broad.mit.edu	37	12	133244227	133244227	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					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)	AGGCTTTCCGGCAGTAATCTA	0.572								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.(2179-2181)tgC>tgT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							265.0	219.0	234.0					12																	133244227		2203	4300	6503	SO:0001819	synonymous_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.chr12:133244227G>A		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.2181C>T	12.37:g.133244227G>A			Somatic				POLE_ENST00000535270.1_Silent_p.C700C	p.C727C	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)	20	2224	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	727					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.2181C>T	CCDS9278.1																																																																																				0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	271	0	0	0	1	0	4	271				
MICAL3	57553	broad.mit.edu	37	22	18379546	18379546	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18379546G>A	ENST00000441493.2	-	8	1502	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	384	Monooxygenase domain. {ECO:0000250}.				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)		TTCTGCTCCCGCACCAAGGCG	0.562											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(1150-1152)Cgg>Tgg		microtubule associated monooxygenase, calponin and LIM domain containing 3							58.0	52.0	54.0					22																	18379546		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18379546G>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.1150C>T	22.37:g.18379546G>A	ENSP00000416015:p.Arg384Trp		Somatic	OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	725	MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W	p.R384W	NM_015241.2	NP_056056.2	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	8	1502	-		all_epithelial(15;0.198)	384					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.1150C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312335	0.95655	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.85	5.85	0.93711	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.921;0.996;0.925	T	0.49153	-0.8969	10	0.66056	D	0.02	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	384;384;384;384	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	W	384	ENSP00000416015:R384W;ENSP00000414846:R384W;ENSP00000383406:R384W;ENSP00000410315:R384W;ENSP00000391827:R384W;ENSP00000372574:R384W;ENSP00000207726:R384W	ENSP00000207726:R384W	R	-	1	2	XXbac-B461K10.4;MICAL3	16759546	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.829000	0.99411	2.773000	0.95371	0.585000	0.79938	CGG		0.562	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	226	0	0	0	1	0	4	226				
NMT2	9397	broad.mit.edu	37	10	15161374	15161374	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:15161374G>A	ENST00000378165.4	-	9	1218	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	380					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATGTGCTCCCGGGGGAGGAAC	0.448																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(1138-1140)Cgg>Tgg		N-myristoyltransferase 2							188.0	179.0	182.0					10																	15161374		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15161374G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1138C>T	10.37:g.15161374G>A	ENSP00000367407:p.Arg380Trp		Somatic				NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	p.R380W	NM_004808.2	NP_004799.1	WXS	Illumina GAIIx	Phase_I	O60551	NMT2_HUMAN			9	1218	-			380					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.1138C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200969	0.38905	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.49139	0.79	5.61	2.6	0.31112	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.166280	0.53938	D	0.000051	T	0.55065	0.1897	M	0.86864	2.845	0.36554	D	0.872037	B;B;B	0.19200	0.004;0.034;0.004	B;B;B	0.21708	0.007;0.036;0.007	T	0.62623	-0.6815	10	0.87932	D	0	-10.3341	14.4766	0.67551	0.0:0.0:0.6038:0.3962	.	380;367;380	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	W	380;367;411;192;367	ENSP00000367407:R380W	ENSP00000367385:R411W	R	-	1	2	NMT2	15201380	1.000000	0.71417	0.496000	0.27539	0.445000	0.32107	6.495000	0.73665	0.245000	0.21373	-0.182000	0.12963	CGG		0.448	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		8	510	0	0	0	1	0	8	510				
DGKE	8526	broad.mit.edu	37	17	54921397	54921397	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:54921397A>G	ENST00000284061.3	+	3	662	c.482A>G	c.(481-483)aAa>aGa	p.K161R	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	161					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGGTGCCAGAAAACAGTACAT	0.308																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(481-483)aAa>aGa		diacylglycerol kinase, epsilon 64kDa							67.0	69.0	69.0					17																	54921397		2203	4297	6500	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54921397A>G	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.482A>G	17.37:g.54921397A>G	ENSP00000284061:p.Lys161Arg		Somatic				DGKE_ENST00000576869.1_3'UTR	p.K161R	NM_003647.2	NP_003638.1	WXS	Illumina GAIIx	Phase_I	P52429	DGKE_HUMAN			3	662	+	Breast(9;3.59e-07)		161					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.482A>G	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480547	0.04383	.	.	ENSG00000153933	ENST00000284061	D	0.83992	-1.79	5.57	3.33	0.38152	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.514144	0.21756	N	0.069600	T	0.51550	0.1681	N	0.01048	-1.04	0.40620	D	0.981754	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53732	-0.8397	10	0.02654	T	1	.	9.1432	0.36917	0.7256:0.0:0.2744:0.0	.	161;161	A1L4Q0;P52429	.;DGKE_HUMAN	R	161	ENSP00000284061:K161R	ENSP00000284061:K161R	K	+	2	0	DGKE	52276396	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	2.108000	0.41854	0.952000	0.37798	0.455000	0.32223	AAA		0.308	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		4	68	0	0	0	1	0	4	68				
ACSL1	2180	broad.mit.edu	37	4	185687852	185687852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:185687852C>A	ENST00000515030.1	-	13	1512	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M|ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	396					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTTCTTTCCTCTTGGAGGC	0.498																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1186-1188)aGg>aTg		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						123.0	116.0	119.0					4																	185687852		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687852C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1187G>T	4.37:g.185687852C>A	ENSP00000422607:p.Arg396Met		Somatic				ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M	p.R396M			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	13	1512	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	396					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1187G>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618943	0.66787	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.06	5.06	0.68205	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.55017	1.72	0.80722	D	1	P;P;P	0.38250	0.541;0.624;0.624	P;B;B	0.45474	0.482;0.411;0.316	T	0.05599	-1.0875	10	0.35671	T	0.21	-23.223	18.4603	0.90736	0.0:1.0:0.0:0.0	.	362;396;396	E7EPM6;B7Z452;P33121	.;.;ACSL1_HUMAN	M	225;396;2;396;362;225;396;396	ENSP00000407165:R225M;ENSP00000422607:R396M;ENSP00000425098:R2M;ENSP00000281455:R396M;ENSP00000426244:R362M;ENSP00000405687:R225M;ENSP00000425006:R396M;ENSP00000426150:R396M	ENSP00000281455:R396M	R	-	2	0	ACSL1	185924846	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.712000	0.84684	2.360000	0.80028	0.655000	0.94253	AGG		0.498	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		62	409	1	0	1.95512e-22	1	2.33292e-22	62	409				
DBNL	28988	broad.mit.edu	37	7	44099010	44099010	+	Missense_Mutation	SNP	G	G	T	rs530120610		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:44099010G>T	ENST00000448521.1	+	10	991	c.893G>T	c.(892-894)gGc>gTc	p.G298V	DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V|DBNL_ENST00000494774.1_Missense_Mutation_p.G299V|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000468694.1_Missense_Mutation_p.G307V	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	298					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCCACTTTGGCAGAGAGCCA	0.592																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(895-897)gGc>gTc		drebrin-like							40.0	42.0	41.0					7																	44099010		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44099010G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.893G>T	7.37:g.44099010G>T	ENSP00000411701:p.Gly298Val		Somatic				DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V	p.G299V	NM_014063.6	NP_054782.2	WXS	Illumina GAIIx	Phase_I	Q9UJU6	DBNL_HUMAN			10	917	+			298					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.896G>T	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.532181|2.532181	0.45073|0.45073	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	T;T;T;T;T;T;T|.	0.28895|.	1.99;2.3;2.3;2.29;1.59;2.01;2.33|.	5.56|5.56	-1.17|-1.17	0.09648|0.09648	Src homology-3 domain (1);|.	2.138900|.	0.01797|.	N|.	0.032674|.	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B;B;B;B|.	0.09022|.	0.001;0.001;0.001;0.002;0.002;0.002;0.001;0.0;0.002|.	B;B;B;B;B;B;B;B;B|.	0.11329|.	0.002;0.002;0.002;0.002;0.004;0.002;0.006;0.0;0.004|.	T|T	0.30736|0.30736	-0.9968|-0.9968	10|5	0.27082|.	T|.	0.32|.	-4.6731|-4.6731	7.1471|7.1471	0.25589|0.25589	0.077:0.3987:0.4268:0.0975|0.077:0.3987:0.4268:0.0975	.|.	195;247;228;250;204;274;307;298;299|.	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;.;.;.;.;DBNL_HUMAN;.|.	V|C	298;250;195;274;307;299;204;228|226	ENSP00000411701:G298V;ENSP00000416421:G250V;ENSP00000415173:G195V;ENSP00000405343:G274V;ENSP00000417653:G307V;ENSP00000419992:G299V;ENSP00000417749:G204V|.	ENSP00000415173:G195V|.	G|W	+|+	2|3	0|0	DBNL|DBNL	44065535|44065535	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.964000|0.964000	0.63967|0.63967	-0.836000|-0.836000	0.04382|0.04382	-0.206000|-0.206000	0.10203|0.10203	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.592	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		8	64	1	0	1.26484e-09	1	1.43971e-09	8	64				
JKAMP	51528	broad.mit.edu	37	14	59954452	59954452	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:59954452C>G	ENST00000261247.9	+	3	304	c.157C>G	c.(157-159)Cct>Gct	p.P53A	JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|JKAMP_ENST00000554271.1_Missense_Mutation_p.P67A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	68					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.P61A(1)|p.P63A(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACAGAATCTCCTGAACTTTA	0.373																																						ENST00000554271.1																			2	Substitution - Missense(2)	p.P61A(1)|p.P63A(1)	kidney(2)	breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(199-201)Cct>Gct		JNK1/MAPK8-associated membrane protein							285.0	271.0	275.0					14																	59954452		1869	4116	5985	SO:0001583	missense	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59954452C>G	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.157C>G	14.37:g.59954452C>G	ENSP00000261247:p.Pro53Ala		Somatic				JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A	p.P67A			WXS	Illumina GAIIx	Phase_I	Q9P055	JKAMP_HUMAN			3	725	+			68					B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	c.199C>G	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121821	0.77436	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.994	T	0.77822	-0.2445	9	0.38643	T	0.18	-41.9277	19.6128	0.95616	0.0:1.0:0.0:0.0	.	67;47;61;53	G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	.;.;.;.	A	53;47;53;67;61;61	.	ENSP00000261247:P53A	P	+	1	0	JKAMP	59024205	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.644000	0.83416	2.635000	0.89317	0.655000	0.94253	CCT		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		155	463	0	0	0	1	0	155	463				
CADM1	23705	broad.mit.edu	37	11	115085414	115085414	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:115085414A>T	ENST00000452722.3	-	7	928	c.908T>A	c.(907-909)cTa>cAa	p.L303Q	CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q|CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.L303Q	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTTTTGTTTAGGTTATTGAT	0.468																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(907-909)cTa>cAa		cell adhesion molecule 1							258.0	223.0	235.0					11																	115085414		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085414A>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.908T>A	11.37:g.115085414A>T	ENSP00000395359:p.Leu303Gln		Somatic				CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q	p.L303Q	NM_001098517.1	NP_001091987.1	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1036	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	303			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000452722.3	37	c.908T>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448756	0.84101	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.85948	0.5816	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.999	D;P;D;D;D	0.87578	0.939;0.902;0.976;0.996;0.998	D	0.89471	0.3743	10	0.87932	D	0	.	15.8389	0.78824	1.0:0.0:0.0:0.0	.	303;303;304;303;303	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;.;CADM1_HUMAN;.	Q	303;303;303;303;262;303	ENSP00000439176:L303Q;ENSP00000395359:L303Q;ENSP00000439817:L303Q;ENSP00000440322:L303Q;ENSP00000329797:L303Q	ENSP00000329797:L303Q	L	-	2	0	CADM1	114590624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.150000	0.67090	0.533000	0.62120	CTA		0.468	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	254	0	0	0	1	0	5	254				
TENM1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:123540242C>G	ENST00000371130.3	-	25	5122	c.5059G>C	c.(5059-5061)Gat>Cat	p.D1687H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1694H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1687					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D1689H(1)									TTGGAAGTATCTAGCTCCACT	0.458																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.D1689H(1)	kidney(1)								c.(5080-5082)Gat>Cat		teneurin transmembrane protein 1							212.0	190.0	197.0					X																	123540242		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123540242C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5059G>C	X.37:g.123540242C>G	ENSP00000360171:p.Asp1687His		Somatic				STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H	p.D1694H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					26	5143	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5080G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735372	0.69189	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85629	-2.01;-1.97	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.285324	0.39407	N	0.001372	D	0.85252	0.5654	L	0.44542	1.39	0.45056	D	0.998072	D;P;D	0.57257	0.974;0.944;0.979	P;P;P	0.48114	0.533;0.496;0.567	D	0.86757	0.1964	10	0.62326	D	0.03	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	1693;1694;1687	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	1687;1694	ENSP00000360171:D1687H;ENSP00000403954:D1694H	ENSP00000360171:D1687H	D	-	1	0	ODZ1	123367923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.604000	0.61112	2.343000	0.79666	0.600000	0.82982	GAT		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	209	0	0	0	1	0	6	209				
C8orf34	116328	broad.mit.edu	37	8	69381029	69381029	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:69381029G>A	ENST00000539993.1	+	4	1001	c.452G>A	c.(451-453)gGg>gAg	p.G151E	C8orf34_ENST00000337103.4_Missense_Mutation_p.G126E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	151										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGAAGCTGGGGAAAGCCCTT	0.408																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(376-378)gGg>gAg		chromosome 8 open reading frame 34							84.0	78.0	80.0					8																	69381029		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69381029G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.452G>A	8.37:g.69381029G>A	ENSP00000438159:p.Gly151Glu		Somatic				C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E	p.G126E			WXS	Illumina GAIIx	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	1969	+			151					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	G	27.6	4.841660	0.91197	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54866	0.55;0.61;0.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.63428	1.95	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69217	-0.5203	9	.	.	.	-17.6163	19.4131	0.94683	0.0:0.0:1.0:0.0	.	151;151	Q49A92;Q49A92-3	CH034_HUMAN;.	E	237;151;151;126	ENSP00000427820:G237E;ENSP00000438159:G151E;ENSP00000337174:G126E	.	G	+	2	0	C8orf34	69543583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.588000	0.87417	0.591000	0.81541	GGG		0.408	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		6	124	0	0	0	1	0	6	124				
ABCB11	8647	broad.mit.edu	37	2	169801269	169801269	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:169801269G>A	ENST00000263817.6	-	21	2580	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTAGCAAAGGCATATCCCTA	0.363																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2455-2457)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						76.0	69.0	71.0					2																	169801269		1820	4081	5901	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801269G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2456C>T	2.37:g.169801269G>A	ENSP00000263817:p.Ala819Val		Somatic					p.A819V	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			21	2580	-			819			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2456C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189099	0.57909	.	.	ENSG00000073734	ENST00000263817	D	0.89415	-2.51	5.96	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.303456	0.40302	N	0.001140	D	0.88596	0.6479	L	0.60455	1.87	0.37590	D	0.920159	B;B	0.27166	0.083;0.17	B;B	0.37198	0.122;0.243	D	0.86632	0.1886	10	0.25751	T	0.34	.	15.2664	0.73666	0.0:0.0:0.7452:0.2548	.	261;819	B4DZQ8;O95342	.;ABCBB_HUMAN	V	819	ENSP00000263817:A819V	ENSP00000263817:A819V	A	-	2	0	ABCB11	169509515	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	4.941000	0.63540	1.456000	0.47831	0.650000	0.86243	GCC		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		4	178	0	0	0	1	0	4	178				
CYP4A11	1579	broad.mit.edu	37	1	47403749	47403749	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:47403749A>G	ENST00000310638.4	-	2	287	c.256T>C	c.(256-258)Tgt>Cgt	p.C86R	CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.C86R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	86					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.C86R(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAATGAGGACAGGCACTTGGG	0.493																																						ENST00000310638.4																			1	Substitution - Missense(1)	p.C86R(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(256-258)Tgt>Cgt		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						226.0	178.0	194.0					1																	47403749		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47403749A>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.256T>C	1.37:g.47403749A>G	ENSP00000311095:p.Cys86Arg		Somatic				CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R	p.C86R	NM_000778.3	NP_000769.2	WXS	Illumina GAIIx	Phase_I	Q02928	CP4AB_HUMAN			2	287	-			86					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.256T>C	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	13.38	2.219360	0.39201	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68181	-0.31;-0.31;-0.31	5.51	0.264	0.15607	.	0.677681	0.14912	N	0.291154	T	0.61035	0.2315	L	0.48174	1.505	0.18873	N	0.999983	P	0.41102	0.738	P	0.47891	0.56	T	0.52260	-0.8599	10	0.48119	T	0.1	.	4.5053	0.11885	0.6165:0.0:0.1415:0.242	.	86	Q02928	CP4AB_HUMAN	R	86	ENSP00000311095:C86R;ENSP00000360971:C86R;ENSP00000360972:C86R	ENSP00000311095:C86R	C	-	1	0	CYP4A11	47176336	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	-0.110000	0.10824	0.039000	0.15632	-0.394000	0.06481	TGT		0.493	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		44	283	0	0	0	1	0	44	283				
RDH16	8608	broad.mit.edu	37	12	57351183	57351183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:57351183G>A	ENST00000398138.3	-	1	920	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	22					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTCAGCACCTGCCTCTCCCGG	0.587																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(64-66)Cag>Tag		retinol dehydrogenase 16 (all-trans)							81.0	88.0	86.0					12																	57351183		2203	4300	6503	SO:0001587	stop_gained	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57351183G>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.64C>T	12.37:g.57351183G>A	ENSP00000381206:p.Gln22*		Somatic				RDH16_ENST00000360752.4_5'UTR	p.Q22*	NM_003708.3	NP_003699.3	WXS	Illumina GAIIx	Phase_I	O75452	RDH16_HUMAN			1	920	-			22					Q9UNV2	Nonsense_Mutation	SNP	ENST00000398138.3	37	c.64C>T	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	G	41	8.617760	0.98888	.	.	ENSG00000139547	ENST00000398138	.	.	.	4.72	2.84	0.33178	.	0.218384	0.31199	N	0.008080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.6095	0.33793	0.0:0.1482:0.5461:0.3057	.	.	.	.	X	22	.	ENSP00000381206:Q22X	Q	-	1	0	RDH16	55637450	0.822000	0.29219	0.995000	0.50966	0.467000	0.32768	1.458000	0.35223	0.562000	0.29204	0.655000	0.94253	CAG		0.587	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		7	215	0	0	0	1	0	7	215				
USP34	9736	broad.mit.edu	37	2	61546362	61546362	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:61546362A>T	ENST00000398571.2	-	22	3190	c.3114T>A	c.(3112-3114)agT>agA	p.S1038R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1038					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)			GTTGATCTTTACTTCGAACTT	0.338																																						ENST00000398571.2																			0				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						c.(3112-3114)agT>agA		ubiquitin specific peptidase 34							130.0	120.0	123.0					2																	61546362		1862	4091	5953	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61546362A>T	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	ENST00000398571.2:c.3114T>A	2.37:g.61546362A>T	ENSP00000381577:p.Ser1038Arg		Somatic					p.S1038R	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		22	3190	-			1038					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3114T>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095289	0.76870	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03801	3.8	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.53249	1.67	0.54753	D	0.999987	D	0.61697	0.99	D	0.69142	0.962	T	0.00260	-1.1869	10	0.62326	D	0.03	.	10.4438	0.44481	0.9275:0.0:0.0725:0.0	.	1038	Q70CQ2	UBP34_HUMAN	R	886;886;1038	ENSP00000381577:S1038R	ENSP00000263989:S886R	S	-	3	2	USP34	61399866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.631000	0.54280	2.210000	0.71456	0.482000	0.46254	AGT		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	94	0	0	0	1	0	4	94				
GNAZ	2781	broad.mit.edu	37	22	23465467	23465467	+	Missense_Mutation	SNP	G	G	A	rs368759895		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:23465467G>A	ENST00000248996.4	+	3	1583	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACATCCAGCGGCAGTTTGAA	0.577																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(916-918)cGg>cAg		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	125.0	98.0	107.0		917,	5.1	1.0	22		107	0,8600		0,0,4300	no	missense,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	43,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	306/356,	23465467	1,13005	2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465467G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.917G>A	22.37:g.23465467G>A	ENSP00000248996:p.Arg306Gln		Somatic				RTDR1_ENST00000216036.4_Intron	p.R306Q	NM_002073.2	NP_002064.1	WXS	Illumina GAIIx	Phase_I	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1583	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		306					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.917G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387103	0.82902	2.27E-4	0.0	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88354	-2.37	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	N	0.02665	-0.54	0.58432	D	0.99999	B	0.34329	0.449	B	0.35770	0.21	T	0.75747	-0.3209	10	0.15499	T	0.54	.	17.9627	0.89090	0.0:0.0:1.0:0.0	.	306	P19086	GNAZ_HUMAN	Q	306;254	ENSP00000248996:R306Q	ENSP00000248996:R306Q	R	+	2	0	GNAZ	21795467	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.655000	0.83696	2.580000	0.87095	0.655000	0.94253	CGG		0.577	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		5	444	0	0	0	1	0	5	444				
PCDHGC5	56097	broad.mit.edu	37	5	140869551	140869551	+	Silent	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140869551T>A	ENST00000252087.1	+	1	744	c.744T>A	c.(742-744)cgT>cgA	p.R248R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R248R(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACGTGTGGGAATCC	0.542																																						ENST00000252087.1																			2	Substitution - coding silent(2)	p.R248R(2)	kidney(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(742-744)cgT>cgA									174.0	177.0	176.0					5																	140869551		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869551T>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.744T>A	5.37:g.140869551T>A			Somatic				PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	p.R248R	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	744	+			248			Cadherin 3.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.744T>A	CCDS4263.1																																																																																				0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		149	304	0	0	0	1	0	149	304				
ASL	435	broad.mit.edu	37	7	65557820	65557820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:65557820C>T	ENST00000304874.9	+	17	1418	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	ASL_ENST00000395331.3_Missense_Mutation_p.A419V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.A439V|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000380839.4_Missense_Mutation_p.A413V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	439					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTATGGTGCCCTGGGCGGC	0.692																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1315-1317)gCc>gTc		argininosuccinate lyase	L-Arginine(DB00125)						66.0	65.0	65.0					7																	65557820		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557820C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1316C>T	7.37:g.65557820C>T	ENSP00000307188:p.Ala439Val		Somatic				ASL_ENST00000395332.3_Missense_Mutation_p.A439V|ASL_ENST00000380839.4_Missense_Mutation_p.A413V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|AC068533.7_ENST00000450043.1_Intron	p.A439V	NM_000048.3	NP_000039.2	WXS	Illumina GAIIx	Phase_I	P04424	ARLY_HUMAN			17	1418	+			439					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1316C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.609739	0.46527	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	5.58	5.58	0.84498	L-Aspartase-like (1);	0.051633	0.85682	D	0.000000	D	0.95887	0.8661	N	0.16233	0.39	0.80722	D	1	B;B;B	0.23058	0.058;0.065;0.079	B;B;B	0.20767	0.031;0.011;0.01	D	0.93824	0.7121	10	0.02654	T	1	.	18.5532	0.91073	0.0:1.0:0.0:0.0	.	413;419;439	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	V	439;413;439;419	ENSP00000307188:A439V;ENSP00000370219:A413V;ENSP00000378741:A439V;ENSP00000378740:A419V	ENSP00000307188:A439V	A	+	2	0	ASL	65195255	1.000000	0.71417	0.539000	0.28077	0.215000	0.24574	6.667000	0.74451	2.622000	0.88805	0.491000	0.48974	GCC		0.692	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	409	0	0	0	1	0	5	409				
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:24874692G>T	ENST00000396432.2	-	26	5012	c.4526C>A	c.(4525-4527)tCa>tAa	p.S1509*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4525-4527)tCa>tAa		Rho GTPase activating protein 21							275.0	243.0	254.0					10																	24874692		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874692G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4526C>A	10.37:g.24874692G>T	ENSP00000379709:p.Ser1509*		Somatic					p.S1509*	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5012	-			1508					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.4526C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	44	10.800520	0.99470	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	.	.	.	4.47	4.47	0.54385	.	0.858387	0.10257	N	0.696485	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1068	0.20077	0.097:0.0:0.6573:0.2456	.	.	.	.	X	1509;958	.	ENSP00000379709:S1509X	S	-	2	0	ARHGAP21	24914698	0.990000	0.36364	0.002000	0.10522	0.003000	0.03518	3.480000	0.53172	2.026000	0.59711	0.543000	0.68304	TCA		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		8	845	1	0	6.5536e-12	1	7.59971e-12	8	845				
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	T	rs140917604		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:11292739C>T	ENST00000227756.4	-	11	2187	c.1776G>A	c.(1774-1776)tcG>tcA	p.S592S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	592	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGTGCTGGCCCGAGCACTTCT	0.617																																						ENST00000227756.4																			0											c.(1774-1776)tcG>tcA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18				0,4402		0,0,2201	83.0	76.0	78.0		1776	-5.0	1.0	11	dbSNP_134	78	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	GALNTL4	NM_198516.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		592/608	11292739	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374378							g.chr11:11292739C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1776G>A	11.37:g.11292739C>T			Somatic					p.S592S	NM_198516.2	NP_940918.2	WXS	Illumina GAIIx	Phase_I					11	2187	-								O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1776G>A	CCDS7807.1																																																																																				0.617	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		7	485	0	0	0	1	0	7	485				
PRKAG1	5571	broad.mit.edu	37	12	49397067	49397067	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49397067C>T	ENST00000548065.1	-	11	1204	c.748G>A	c.(748-750)Gca>Aca	p.A250T	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	250	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TTTTCTGCTGCCAGATTCTGG	0.493																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(748-750)Gca>Aca		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							265.0	263.0	263.0					12																	49397067		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49397067C>T	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.748G>A	12.37:g.49397067C>T	ENSP00000447433:p.Ala250Thr		Somatic				RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA	p.A250T			WXS	Illumina GAIIx	Phase_I	P54619	AAKG1_HUMAN			11	1204	-			250			CBS 3.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.748G>A	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031038	0.75504	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.06	5.06	0.68205	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.84773	2.715	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.975	D	0.96680	0.9503	10	0.72032	D	0.01	-2.8626	17.3722	0.87381	0.0:1.0:0.0:0.0	.	259;250	Q8N7V9;P54619	.;AAKG1_HUMAN	T	15;166;199;259;250;218;170;144	ENSP00000446987:A15T;ENSP00000378599:A166T;ENSP00000448873:A199T;ENSP00000323867:A259T;ENSP00000447433:A250T;ENSP00000448972:A218T;ENSP00000449121:A170T;ENSP00000447671:A144T	ENSP00000323867:A259T	A	-	1	0	PRKAG1	47683334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.639000	0.89480	0.655000	0.94253	GCA		0.493	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		6	899	0	0	0	1	0	6	899				
MICU1	10367	broad.mit.edu	37	10	74128087	74128087	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:74128087A>G	ENST00000361114.5	-	12	1393	c.1297T>C	c.(1297-1299)Ttt>Ctt	p.F433L	MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L|MICU1_ENST00000398761.4_Missense_Mutation_p.F435L|MICU1_ENST00000398763.4_Missense_Mutation_p.F235L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	433	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.F435L(1)									ATGGAAACAAATTCCTTATTG	0.473																																						ENST00000398761.4																			1	Substitution - Missense(1)	p.F435L(1)	kidney(1)								c.(1303-1305)Ttt>Ctt		mitochondrial calcium uptake 1							94.0	89.0	90.0					10																	74128087		1947	4141	6088	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74128087A>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1297T>C	10.37:g.74128087A>G	ENSP00000354415:p.Phe433Leu		Somatic				MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L|MICU1_ENST00000398763.4_Missense_Mutation_p.F235L	p.F435L			WXS	Illumina GAIIx	Phase_I	Q9BPX6	MICU1_HUMAN			14	1435	-			433			EF-hand 2.		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1303T>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	A	35	5.590525	0.96590	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.83223	2.63	0.80722	D	1	D;D;D	0.59357	0.983;0.983;0.985	D;D;P	0.63877	0.919;0.919;0.831	D	0.95805	0.8836	10	0.51188	T	0.08	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	235;235;433	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	L	433;435;433;235;235	ENSP00000354415:F433L;ENSP00000381745:F435L;ENSP00000384068:F433L;ENSP00000402470:F235L;ENSP00000381747:F235L	ENSP00000354415:F433L	F	-	1	0	MICU1	73798093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.307000	0.96226	2.257000	0.74773	0.533000	0.62120	TTT		0.473	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		26	155	0	0	0	1	0	26	155				
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1645-1647)gCc>gTc		IQ motif containing B1							181.0	174.0	176.0					3																	121489343		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489343G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1646C>T	3.37:g.121489343G>A	ENSP00000311505:p.Ala549Val		Somatic				IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	p.A549V	NM_001023570.2	NP_001018864.2	WXS	Illumina GAIIx	Phase_I	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1860	-			549					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1646C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC		0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		5	474	0	0	0	1	0	5	474				
ADAM20	8748	broad.mit.edu	37	14	70989907	70989907	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:70989907G>A	ENST00000256389.3	-	2	1962	c.1718C>T	c.(1717-1719)gCa>gTa	p.A573V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	523	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCACTCCTTGCATCTTGGCC	0.418																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1717-1719)gCa>gTa		ADAM metallopeptidase domain 20							202.0	148.0	167.0					14																	70989907		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989907G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1718C>T	14.37:g.70989907G>A	ENSP00000256389:p.Ala573Val		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA	p.A573V	NM_003814.4	NP_003805.3	WXS	Illumina GAIIx	Phase_I	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1962	-			523			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1718C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828901	0.71258	.	.	ENSG00000134007	ENST00000256389	T	0.26660	1.72	4.66	4.66	0.58398	ADAM, cysteine-rich (2);	0.191574	0.24523	N	0.037797	T	0.49745	0.1575	M	0.69358	2.11	0.28968	N	0.889392	D	0.76494	0.999	D	0.78314	0.991	T	0.48969	-0.8987	10	0.87932	D	0	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	523	O43506	ADA20_HUMAN	V	573	ENSP00000256389:A573V	ENSP00000256389:A573V	A	-	2	0	ADAM20	70059660	0.995000	0.38212	0.947000	0.38551	0.529000	0.34654	6.351000	0.73022	2.284000	0.76573	0.557000	0.71058	GCA		0.418	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			9	909	0	0	0	1	0	9	909				
DIO1	1733	broad.mit.edu	37	1	54360160	54360160	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:54360160C>T	ENST00000361921.3	+	1	301	c.277C>T	c.(277-279)Cca>Tca	p.P93S	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S|DIO1_ENST00000525202.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGGTCTGGCCCCAAACTGCCC	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(277-279)Cca>Tca		deiodinase, iodothyronine, type I							51.0	45.0	47.0					1																	54360160		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360160C>T		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.277C>T	1.37:g.54360160C>T	ENSP00000354643:p.Pro93Ser		Somatic				DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S	p.P93S	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	301	+			93					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.277C>T	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493542	0.64186	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.79	4.79	0.61399	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.84326	2.69	0.44085	D	0.996845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.77950	-0.2395	10	0.56958	D	0.05	.	16.198	0.82043	0.0:1.0:0.0:0.0	.	93;93;93	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	S	50;93;93;93;93	ENSP00000432797:P50S;ENSP00000354643:P93S;ENSP00000323198:P93S;ENSP00000434758:P93S;ENSP00000373528:P93S	ENSP00000323198:P93S	P	+	1	0	DIO1	54132748	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	4.312000	0.59154	2.492000	0.84095	0.561000	0.74099	CCA		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			26	192	0	0	0	1	0	26	192				
GALNT2	2590	broad.mit.edu	37	1	230381811	230381811	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:230381811C>T	ENST00000366672.4	+	8	804	c.732C>T	c.(730-732)gaC>gaT	p.D244D	GALNT2_ENST00000541865.1_Silent_p.D154D|GALNT2_ENST00000543760.1_Silent_p.D206D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	244					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TATTTTAGGACAGGACTCGGG	0.458																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(730-732)gaC>gaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							145.0	139.0	141.0					1																	230381811		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230381811C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.732C>T	1.37:g.230381811C>T			Somatic				GALNT2_ENST00000543760.1_Silent_p.D206D|GALNT2_ENST00000541865.1_Silent_p.D154D	p.D244D	NM_004481.3	NP_004472.1	WXS	Illumina GAIIx	Phase_I	Q10471	GALT2_HUMAN			8	804	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	244					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.732C>T	CCDS1582.1																																																																																				0.458	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		7	279	0	0	0	1	0	7	279				
C1QTNF7	114905	broad.mit.edu	37	4	15444098	15444098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:15444098C>T	ENST00000444304.2	+	3	871	c.545C>T	c.(544-546)aCa>aTa	p.T182I	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.T189I|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	182	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AACCCTGCCACAGGGAAGTTC	0.443																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(565-567)aCa>aTa		C1q and tumor necrosis factor related protein 7							155.0	169.0	165.0					4																	15444098		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444098C>T	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.545C>T	4.37:g.15444098C>T	ENSP00000388914:p.Thr182Ile		Somatic				C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I	p.T189I	NM_001135170.1	NP_001128642.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ2	C1QT7_HUMAN			3	825	+			182			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.566C>T	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565856	0.45694	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.79352	-1.26;-1.26;-1.26	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.103815	0.64402	D	0.000003	T	0.79112	0.4391	M	0.87971	2.92	0.51767	D	0.999931	P	0.38048	0.616	B	0.38056	0.264	T	0.80044	-0.1547	9	.	.	.	.	9.0973	0.36647	0.1476:0.7798:0.0:0.0726	.	182	Q9BXJ2	C1QT7_HUMAN	I	189;182;182	ENSP00000295297:T189I;ENSP00000410722:T182I;ENSP00000388914:T182I	.	T	+	2	0	C1QTNF7	15053196	0.998000	0.40836	0.130000	0.21974	0.873000	0.50193	3.922000	0.56462	2.748000	0.94277	0.655000	0.94253	ACA		0.443	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			5	685	0	0	0	1	0	5	685				
DTX3	196403	broad.mit.edu	37	12	58002934	58002934	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:58002934G>A	ENST00000548198.1	+	5	2547	c.1043G>A	c.(1042-1044)tGa>tAa	p.*348*	DTX3_ENST00000551632.1_Silent_p.*351*|ARHGEF25_ENST00000333972.7_5'Flank|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000548804.1_Silent_p.*348*|DTX3_ENST00000337737.3_Silent_p.*348*|AC025165.8_ENST00000356672.3_RNA			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	0					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGATGACTGAAGGACATCG	0.592																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(1042-1044)tGa>tAa		deltex homolog 3 (Drosophila)							107.0	109.0	108.0					12																	58002934		1991	4168	6159	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002934G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.1043G>A	12.37:g.58002934G>A			Somatic				DTX3_ENST00000337737.3_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000548804.1_Silent_p.*348*	p.*348*			WXS	Illumina GAIIx	Phase_I	Q8N9I9	DTX3_HUMAN			5	2547	+	Melanoma(17;0.122)		0					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.1043G>A	CCDS41800.1																																																																																				0.592	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		11	134	0	0	0	1	0	11	134				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T			Somatic				NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	4	70	0	0	0	1	0	4	70				
CNBP	7555	broad.mit.edu	37	3	128889301	128889301	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:128889301C>T	ENST00000422453.2	-	5	689	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	CNBP_ENST00000446936.2_Missense_Mutation_p.A172T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000451728.2_Missense_Mutation_p.A178T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	177					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AATAATTAGGCTGTAGCCTCA	0.468																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(529-531)Gcc>Acc		CCHC-type zinc finger, nucleic acid binding protein							144.0	138.0	140.0					3																	128889301		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889301C>T	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.529G>A	3.37:g.128889301C>T	ENSP00000410619:p.Ala177Thr		Somatic				CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T	p.A177T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	WXS	Illumina GAIIx	Phase_I	P62633	CNBP_HUMAN			5	689	-			177					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.529G>A	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712546	0.68730	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32653	0.379;0.275;0.219	B;B;B	0.26517	0.07;0.067;0.066	T	0.62388	-0.6865	9	0.87932	D	0	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	160;170;177	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	T	170;177;178;172;160;167;179	.	ENSP00000410619:A177T	A	-	1	0	CNBP	130371991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.894000	0.99253	0.591000	0.81541	GCC		0.468	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		7	472	0	0	0	1	0	7	472				
COL6A3	1293	broad.mit.edu	37	2	238274619	238274619	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:238274619C>T	ENST00000295550.4	-	12	6012	c.5560G>A	c.(5560-5562)Gcc>Acc	p.A1854T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1854	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTTCTGGGCCACAAAAACA	0.547																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5560-5562)Gcc>Acc		collagen, type VI, alpha 3							73.0	74.0	74.0					2																	238274619		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274619C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5560G>A	2.37:g.238274619C>T	ENSP00000295550:p.Ala1854Thr		Somatic				COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T	p.A1854T	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6012	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1854			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5560G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365666	0.24684	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88431	-2.38;-2.37;-2.35;-2.35;-2.35;-2.34	4.92	-4.18	0.03846	von Willebrand factor, type A (2);	1.218940	0.05991	N	0.646025	T	0.80607	0.4655	L	0.47716	1.5	0.09310	N	1	P;B;B	0.36144	0.539;0.256;0.001	B;B;B	0.26416	0.057;0.069;0.002	T	0.67284	-0.5709	10	0.32370	T	0.25	.	7.76	0.28946	0.121:0.414:0.0:0.465	.	1247;1648;1854	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1854;1653;1648;1247;1648;1654	ENSP00000295550:A1854T;ENSP00000315609:A1653T;ENSP00000315873:A1648T;ENSP00000418285:A1247T;ENSP00000386844:A1648T;ENSP00000295546:A1654T	ENSP00000295550:A1854T	A	-	1	0	COL6A3	237939358	0.000000	0.05858	0.205000	0.23548	0.694000	0.40290	-0.078000	0.11375	-0.586000	0.05898	0.655000	0.94253	GCC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	146	0	0	0	1	0	4	146				
BAZ1B	9031	broad.mit.edu	37	7	72856668	72856668	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:72856668A>G	ENST00000339594.4	-	19	4648	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1437					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V1437A(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAACAGAGCCACTAGACACTG	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			1	Substitution - Missense(1)	p.V1437A(1)	kidney(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(4309-4311)gTg>gCg		bromodomain adjacent to zinc finger domain, 1B							144.0	129.0	134.0					7																	72856668		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72856668A>G	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4310T>C	7.37:g.72856668A>G	ENSP00000342434:p.Val1437Ala		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	p.V1437A	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			19	4648	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1437					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.4310T>C	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277203	0.40294	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.18502	2.21;2.21	5.54	5.54	0.83059	Bromodomain (3);	0.580363	0.18290	N	0.145733	T	0.10766	0.0263	N	0.19112	0.55	0.27313	N	0.957251	B	0.16603	0.018	B	0.14023	0.01	T	0.25847	-1.0120	10	0.13853	T	0.58	-6.7698	10.9337	0.47233	0.8432:0.1568:0.0:0.0	.	1437	Q9UIG0	BAZ1B_HUMAN	A	1437	ENSP00000342434:V1437A;ENSP00000385442:V1437A	ENSP00000342434:V1437A	V	-	2	0	BAZ1B	72494604	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.701000	0.54793	2.094000	0.63399	0.523000	0.50628	GTG		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		13	138	0	0	0	1	0	13	138				
MYO3A	53904	broad.mit.edu	37	10	26492018	26492018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:26492018G>A	ENST00000265944.5	+	34	4878	c.4712G>A	c.(4711-4713)tGt>tAt	p.C1571Y	MYO3A_ENST00000543632.1_Intron|MYO3A_ENST00000478093.1_3'UTR	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1571					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAATCAATGTATTAAGGCT	0.318																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4711-4713)tGt>tAt		myosin IIIA							77.0	73.0	75.0					10																	26492018		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26492018G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4712G>A	10.37:g.26492018G>A	ENSP00000265944:p.Cys1571Tyr		Somatic				MYO3A_ENST00000543632.1_Intron|MYO3A_ENST00000478093.1_3'UTR	p.C1571Y	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			34	4878	+			1571					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4712G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.578874	0.00879	.	.	ENSG00000095777	ENST00000265944	T	0.76578	-1.03	5.11	2.22	0.28083	.	1.319880	0.04324	N	0.351257	T	0.55146	0.1902	N	0.08118	0	0.20926	N	0.999823	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.02654	T	1	.	6.0305	0.19677	0.1726:0.1539:0.6736:0.0	.	1571	Q8NEV4	MYO3A_HUMAN	Y	1571	ENSP00000265944:C1571Y	ENSP00000265944:C1571Y	C	+	2	0	MYO3A	26532024	0.000000	0.05858	0.186000	0.23195	0.935000	0.57460	0.111000	0.15458	0.257000	0.21650	-0.215000	0.12644	TGT		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		32	145	0	0	0	1	0	32	145				
JAKMIP2	9832	broad.mit.edu	37	5	147009293	147009293	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:147009293T>G	ENST00000265272.5	-	15	2359	c.1892A>C	c.(1891-1893)gAt>gCt	p.D631A	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	631						Golgi apparatus (GO:0005794)		p.D631A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGAGATCAGGGATGTT	0.383																																						ENST00000265272.5																			1	Substitution - Missense(1)	p.D631A(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1891-1893)gAt>gCt		janus kinase and microtubule interacting protein 2							133.0	123.0	126.0					5																	147009293		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147009293T>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1892A>C	5.37:g.147009293T>G	ENSP00000265272:p.Asp631Ala		Somatic				JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A	p.D631A	NM_014790.3	NP_055605.2	WXS	Illumina GAIIx	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2359	-			631					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1892A>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476527	0.84640	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.26373	1.74;1.75;1.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.23833	-1.0177	10	0.09590	T	0.72	.	16.2092	0.82147	0.0:0.0:0.0:1.0	.	589;631;610;631	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	A	610;631;589;610	ENSP00000421398:D610A;ENSP00000265272:D631A;ENSP00000328989:D589A	ENSP00000265272:D631A	D	-	2	0	JAKMIP2	146989486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.840000	0.75369	2.371000	0.80710	0.533000	0.62120	GAT		0.383	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		14	60	0	0	0	1	0	14	60				
S100PBP	64766	broad.mit.edu	37	1	33318709	33318709	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:33318709G>A	ENST00000373475.5	+	6	1308	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTTGATGGATCAAGTTCA	0.488																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(1054-1056)Gat>Aat		S100P binding protein							163.0	143.0	150.0					1																	33318709		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33318709G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.1054G>A	1.37:g.33318709G>A	ENSP00000362574:p.Asp352Asn		Somatic				S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	p.D352N	NM_022753.3	NP_073590.2	WXS	Illumina GAIIx	Phase_I	Q96BU1	S1PBP_HUMAN			6	1308	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	352						Missense_Mutation	SNP	ENST00000373475.5	37	c.1054G>A	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983150	0.53827	.	.	ENSG00000116497	ENST00000373476;ENST00000373475	.	.	.	4.79	3.88	0.44766	.	0.269977	0.34362	N	0.004034	T	0.44095	0.1277	L	0.35723	1.085	0.80722	D	1	B	0.19073	0.033	B	0.22601	0.04	T	0.30707	-0.9969	9	0.24483	T	0.36	-2.7593	9.1033	0.36683	0.0966:0.0:0.9034:0.0	.	352	Q96BU1	S1PBP_HUMAN	N	352	.	ENSP00000362574:D352N	D	+	1	0	S100PBP	33091296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.985000	0.29578	1.635000	0.50512	0.655000	0.94253	GAT		0.488	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		6	560	0	0	0	1	0	6	560				
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		6	416	0	0	0	1	0	6	416				
TBX1	6899	broad.mit.edu	37	22	19766760	19766760	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:19766760G>T	ENST00000329705.7	+	9	1156	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	343					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TGTCCTGAAGGACAAGGAAGT	0.537																																						ENST00000329705.7																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1027-1029)Gac>Tac		T-box 1							85.0	71.0	76.0					22																	19766760		2203	4300	6503	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19766760G>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1027G>T	22.37:g.19766760G>T	ENSP00000331176:p.Asp343Tyr		Somatic				TBX1_ENST00000359500.3_Intron	p.D343Y	NM_080646.1	NP_542377.1	WXS	Illumina GAIIx	Phase_I	O43435	TBX1_HUMAN			9	1156	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	343					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.1027G>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	G	6.531	0.466138	0.12402	.	.	ENSG00000184058	ENST00000329705	D	0.87029	-2.2	1.66	0.607	0.17564	.	.	.	.	.	T	0.66046	0.2750	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.31614	0.133	T	0.61043	-0.7142	9	0.49607	T	0.09	.	3.8956	0.09138	0.2343:0.0:0.7657:0.0	.	343	O43435	TBX1_HUMAN	Y	343	ENSP00000331176:D343Y	ENSP00000331176:D343Y	D	+	1	0	TBX1	18146760	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.159000	0.10056	0.271000	0.22005	0.505000	0.49811	GAC		0.537	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		19	148	1	0	3.51602e-12	1	4.09649e-12	19	148				
FAM208B	54906	broad.mit.edu	37	10	5790396	5790396	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:5790396T>G	ENST00000328090.5	+	15	5637	c.5012T>G	c.(5011-5013)gTa>gGa	p.V1671G		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1671								p.V1671G(1)									ACCCATTATGTAAGACCAATA	0.468																																						ENST00000328090.5																			1	Substitution - Missense(1)	p.V1671G(1)	kidney(1)								c.(5011-5013)gTa>gGa		family with sequence similarity 208, member B							65.0	66.0	66.0					10																	5790396		2146	4263	6409	SO:0001583	missense	54906							g.chr10:5790396T>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5012T>G	10.37:g.5790396T>G	ENSP00000328426:p.Val1671Gly		Somatic					p.V1671G	NM_017782.4	NP_060252.4	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			15	5637	+			1671					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5012T>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525554	0.27299	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04454	3.62	4.5	3.57	0.40892	.	1.523810	0.04173	N	0.325053	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.38112	-0.9676	10	0.54805	T	0.06	.	7.7675	0.28988	0.0:0.8712:0.0:0.1288	.	1671	Q5VWN6	F208B_HUMAN	G	1671;866	ENSP00000328426:V1671G	ENSP00000328426:V1671G	V	+	2	0	C10orf18	5830402	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.112000	0.15479	0.806000	0.34183	0.460000	0.39030	GTA		0.468	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		8	76	0	0	0	1	0	8	76				
VAPB	9217	broad.mit.edu	37	20	57015985	57015985	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:57015985T>C	ENST00000475243.1	+	5	757	c.419T>C	c.(418-420)aTt>aCt	p.I140T	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)	p.I140T(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ATAAATAAAATTATATCCACA	0.338																																						ENST00000475243.1																			1	Substitution - Missense(1)	p.I140T(1)	kidney(1)	kidney(2)|lung(3)|prostate(1)	6						c.(418-420)aTt>aCt		VAMP (vesicle-associated membrane protein)-associated protein B and C							33.0	34.0	34.0					20																	57015985		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57015985T>C	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.419T>C	20.37:g.57015985T>C	ENSP00000417175:p.Ile140Thr		Somatic				VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	p.I140T	NM_004738.4	NP_004729.1	WXS	Illumina GAIIx	Phase_I	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		5	757	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		140					A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.419T>C	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879388	0.33162	.	.	ENSG00000124164	ENST00000475243	T	0.28454	1.61	5.66	5.66	0.87406	.	0.212230	0.48767	D	0.000168	T	0.31638	0.0803	L	0.60455	1.87	0.80722	D	1	P;B	0.39480	0.675;0.011	B;B	0.39258	0.295;0.005	T	0.07520	-1.0768	10	0.13108	T	0.6	-13.7154	15.9043	0.79412	0.0:0.0:0.0:1.0	.	17;140	B4DNS4;O95292	.;VAPB_HUMAN	T	140	ENSP00000417175:I140T	ENSP00000417175:I140T	I	+	2	0	VAPB	56449391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.160000	0.67779	0.528000	0.53228	ATT		0.338	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			78	155	0	0	0	1	0	78	155				
ZNF292	23036	broad.mit.edu	37	6	87966445	87966445	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:87966445T>A	ENST00000369577.3	+	8	3141	c.3098T>A	c.(3097-3099)gTg>gAg	p.V1033E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V1033E(1)|p.V888E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTTTCTGTGCAAAATCAG	0.323																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.V1033E(1)|p.V888E(1)	kidney(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3097-3099)gTg>gAg		zinc finger protein 292							57.0	55.0	56.0					6																	87966445		1846	4085	5931	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966445T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3098T>A	6.37:g.87966445T>A	ENSP00000358590:p.Val1033Glu		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	p.V1033E	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3141	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1033					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3098T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425483	0.43020	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.55	5.55	0.83447	.	0.727297	0.12908	N	0.429186	T	0.03178	0.0093	L	0.29908	0.895	0.27667	N	0.946898	B	0.27068	0.167	B	0.31016	0.123	T	0.36359	-0.9751	10	0.66056	D	0.02	.	10.0915	0.42449	0.0:0.075:0.0:0.925	.	1033	O60281	ZN292_HUMAN	E	1033;1028	ENSP00000358590:V1033E;ENSP00000342847:V1028E	ENSP00000342847:V1028E	V	+	2	0	ZNF292	88023164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.282000	0.51693	2.111000	0.64477	0.482000	0.46254	GTG		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		14	87	0	0	0	1	0	14	87				
STAT2	6773	broad.mit.edu	37	12	56737274	56737274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56737274C>T	ENST00000314128.4	-	24	2478	c.2455G>A	c.(2455-2457)Ggt>Agt	p.G819S	STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	819					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						AGTGGGTCACCATTCGGCATG	0.502																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(2455-2457)Ggt>Agt		signal transducer and activator of transcription 2, 113kDa							131.0	98.0	109.0					12																	56737274		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56737274C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2455G>A	12.37:g.56737274C>T	ENSP00000315768:p.Gly819Ser		Somatic				STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR	p.G819S			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			24	2478	-			819					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.2455G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328453	0.95733	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	T;T	0.56444	0.46;0.46	4.36	4.36	0.52297	Signal transducer and activation of transcription 2, C-terminal (1);	0.429701	0.22107	N	0.064528	T	0.53722	0.1814	L	0.32530	0.975	0.58432	D	0.999995	D;D	0.69078	0.996;0.997	P;P	0.61397	0.821;0.888	T	0.34054	-0.9844	10	0.11485	T	0.65	-6.0141	12.6968	0.57008	0.0:1.0:0.0:0.0	.	815;819	G3V2M6;P52630	.;STAT2_HUMAN	S	819;815	ENSP00000315768:G819S;ENSP00000450751:G815S	ENSP00000315768:G819S	G	-	1	0	STAT2	55023541	0.067000	0.21026	0.133000	0.22050	0.911000	0.54048	3.239000	0.51360	2.715000	0.92844	0.655000	0.94253	GGT		0.502	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		39	169	0	0	0	1	0	39	169				
CTC-260E6.6	0	broad.mit.edu	37	19	20369991	20369991	+	RNA	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:20369991T>C	ENST00000593655.1	-	0	199																											GTCATCACGGTTGAAACGAGA	0.413																																						ENST00000593655.1																			0																																																			0							g.chr19:20369991T>C																													19.37:g.20369991T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			17	117	0	0	0	1	0	17	117				
PSMD6	9861	broad.mit.edu	37	3	64007994	64007994	+	Splice_Site	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:64007994T>G	ENST00000295901.4	-	2	491	c.351A>C	c.(349-351)aaA>aaC	p.K117N	RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000482510.1_Splice_Site_p.K78N|PSMD6_ENST00000492933.1_Splice_Site_p.K170N|PSMD6_ENST00000394431.2_Splice_Site_p.K79N	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of 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 polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.K117N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CTCTACTCACTTTGTCACCTA	0.423																																						ENST00000492933.1																			1	Substitution - Missense(1)	p.K117N(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13						c.e3+1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 6							109.0	107.0	108.0					3																	64007994		2203	4300	6503	SO:0001630	splice_region_variant	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64007994T>G	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.351+1A>C	3.37:g.64007994T>G			Somatic				PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice	p.K170_splice	NM_001271779.1	NP_001258708.1	WXS	Illumina GAIIx	Phase_I	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	3	562	-		Lung NSC(201;0.136)	117					A8K2E0|E9PHI9|Q6UV22	Splice_Site	SNP	ENST00000295901.4	37	c.510_splice	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781606	0.90282	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.19	4.31	0.51392	.	0.086995	0.85682	D	0.000000	D	0.89157	0.6635	H	0.94734	3.575	0.80722	D	1	D;D;D;P	0.63880	0.993;0.962;0.988;0.951	D;P;D;D	0.76071	0.987;0.908;0.974;0.955	D	0.91680	0.5357	9	.	.	.	.	13.0829	0.59123	0.0:0.9215:0.0:0.0785	.	79;78;170;117	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	N	117;170;79;78;131;138	ENSP00000295901:K117N;ENSP00000418695:K170N;ENSP00000377952:K79N;ENSP00000419227:K78N;ENSP00000418887:K131N	.	K	-	3	2	PSMD6	63983034	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.855000	0.69510	1.399000	0.46721	-0.242000	0.12053	AAA		0.423	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	Missense_Mutation	90	219	0	0	0	1	0	90	219				
ISL1	3670	broad.mit.edu	37	5	50680408	50680408	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:50680408G>A	ENST00000230658.7	+	2	647	c.62G>A	c.(61-63)gGc>gAc	p.G21D	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	21	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTTGGTTGCGGCAATCAGATT	0.393																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(61-63)gGc>gAc		ISL LIM homeobox 1							138.0	128.0	131.0					5																	50680408		1853	4100	5953	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680408G>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.62G>A	5.37:g.50680408G>A	ENSP00000230658:p.Gly21Asp		Somatic				ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	p.G21D	NM_002202.2	NP_002193.2	WXS	Illumina GAIIx	Phase_I	P61371	ISL1_HUMAN			2	647	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	21			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.62G>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438501	0.83885	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87103	-2.21;-2.21	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93108	0.6514	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	21	P61371	ISL1_HUMAN	D	21	ENSP00000230658:G21D;ENSP00000422676:G21D	ENSP00000230658:G21D	G	+	2	0	ISL1	50716165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	GGC		0.393	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		4	315	0	0	0	1	0	4	315				
IBTK	25998	broad.mit.edu	37	6	82933226	82933226	+	Missense_Mutation	SNP	G	G	T	rs540604023		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:82933226G>T	ENST00000306270.7	-	8	1604	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K	IBTK_ENST00000503631.1_Missense_Mutation_p.T352K|IBTK_ENST00000510291.1_Missense_Mutation_p.T352K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	352					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACAGACTGTAGCTCCATC	0.428																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1054-1056)aCa>aAa		inhibitor of Bruton agammaglobulinemia tyrosine kinase							113.0	103.0	106.0					6																	82933226		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82933226G>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1055C>A	6.37:g.82933226G>T	ENSP00000305721:p.Thr352Lys		Somatic				IBTK_ENST00000510291.1_Missense_Mutation_p.T352K|IBTK_ENST00000503631.1_Missense_Mutation_p.T352K	p.T352K	NM_015525.2	NP_056340.2	WXS	Illumina GAIIx	Phase_I	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	8	1604	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	352					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1055C>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084523	0.94100	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.83250	-1.7;-1.7;-1.7	5.76	5.76	0.90799	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.999	D	0.91007	0.4847	10	0.87932	D	0	-13.5756	19.9553	0.97216	0.0:0.0:1.0:0.0	.	352;352;352;352	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	352	ENSP00000305721:T352K;ENSP00000422762:T352K;ENSP00000426405:T352K	ENSP00000305721:T352K	T	-	2	0	IBTK	82989945	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.428000	0.97476	2.723000	0.93209	0.467000	0.42956	ACA		0.428	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		5	82	1	0	1.23904e-05	1	1.33643e-05	5	82				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			96610							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	127	0	0	0	1	0	5	127				
NSDHL	50814	broad.mit.edu	37	X	152037392	152037392	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:152037392G>A	ENST00000370274.3	+	8	1048	c.854G>A	c.(853-855)gGc>gAc	p.G285D	NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	285					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTGACAGGCCTCAATTAT	0.532																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(853-855)gGc>gAc		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						168.0	152.0	157.0					X																	152037392		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037392G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.854G>A	X.37:g.152037392G>A	ENSP00000359297:p.Gly285Asp		Somatic				NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	p.G285D	NM_015922.2	NP_057006.1	WXS	Illumina GAIIx	Phase_I	Q15738	NSDHL_HUMAN			8	1048	+	Acute lymphoblastic leukemia(192;6.56e-05)		285					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.854G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.83992	-1.79;-1.79	4.4	4.4	0.53042	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.050844	0.85682	D	0.000000	D	0.87974	0.6313	L	0.51914	1.62	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	D	0.89101	0.3489	10	0.72032	D	0.01	-25.9604	14.1228	0.65201	0.0:0.0:1.0:0.0	.	285	Q15738	NSDHL_HUMAN	D	285	ENSP00000359297:G285D;ENSP00000391854:G285D	ENSP00000359297:G285D	G	+	2	0	NSDHL	151788048	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.769000	0.85360	2.126000	0.65437	0.544000	0.68410	GGC		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		7	420	0	0	0	1	0	7	420				
PAPD5	64282	broad.mit.edu	37	16	50257083	50257083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:50257083A>T	ENST00000561678.1	+	6	866		c.e6-1		PAPD5_ENST00000573002.1_Splice_Site|PAPD5_ENST00000436909.3_Splice_Site|PAPD5_ENST00000357464.3_Splice_Site			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTCTGCTTTTAGTTACATCCC	0.289																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.e8-1		PAP associated domain containing 5							63.0	62.0	62.0					16																	50257083		1795	4064	5859	SO:0001630	splice_region_variant	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50257083A>T	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.793-1A>T	16.37:g.50257083A>T			Somatic				PAPD5_ENST00000436909.3_Splice_Site|PAPD5_ENST00000561678.1_Splice_Site|PAPD5_ENST00000573002.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	8	885	+		all_cancers(37;0.0452)						B4DV38|Q9NW67|Q9Y6C0	Splice_Site	SNP	ENST00000561678.1	37			.	.	.	.	.	.	.	.	.	.	A	22.8	4.338950	0.81911	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPD5	48814584	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	.		0.289	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	Intron	6	129	0	0	0	1	0	6	129				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T	rs558921496	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:14184292C>T	ENST00000581935.1	+	0	981							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279													.|||	8	0.00159744	0.0015	0.0	5008	,	,		17560	0.004		0.001	False		,,,				2504	0.001					ENST00000581935.1																			0				lung(3)	3																																														440482							g.chr18:14184292C>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184292C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	981	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.279	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			10	8	0	0	0	1	0	10	8				
ZFX	7543	broad.mit.edu	37	X	24197445	24197445	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:24197445T>C	ENST00000379177.1	+	6	631	c.204T>C	c.(202-204)atT>atC	p.I68I	ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Silent_p.I68I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Silent_p.I107I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAGATGTTATTGAGGACGTTG	0.403																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(202-204)atT>atC		zinc finger protein, X-linked							272.0	228.0	243.0					X																	24197445		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197445T>C		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.204T>C	X.37:g.24197445T>C			Somatic				ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I|ZFX_ENST00000540034.1_Silent_p.I107I	p.I68I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			6	631	+			68					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.204T>C	CCDS14211.1																																																																																				0.403	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		4	254	0	0	0	1	0	4	254				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.e5-1		absent in melanoma 1							129.0	126.0	127.0					6																	106975178		2203	4300	6503	SO:0001630	splice_region_variant	202						sugar binding	g.chr6:106975178A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3189-1A>T	6.37:g.106975178A>T			Somatic						NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3675	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)						Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37		CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126822	0.77549	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107081871	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	7.659000	0.83766	2.126000	0.65437	0.528000	0.53228	.		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron	7	210	0	0	0	1	0	7	210				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		9	620	0	0	0	1	0	9	620				
BAIAP2L1	55971	broad.mit.edu	37	7	97949408	97949408	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:97949408G>A	ENST00000005260.8	-	5	525	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	BAIAP2L1_ENST00000462558.1_5'UTR|RP11-307C18.1_ENST00000610062.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	104	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTTCTCCAGCTCATGGATA	0.403																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(310-312)Ctg>Ttg		BAI1-associated protein 2-like 1							129.0	117.0	121.0					7																	97949408		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97949408G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.310C>T	7.37:g.97949408G>A			Somatic				BAIAP2L1_ENST00000462558.1_5'UTR	p.L104L	NM_018842.4	NP_061330.2	WXS	Illumina GAIIx	Phase_I	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	525	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		104			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.310C>T	CCDS34687.1																																																																																				0.403	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		5	933	0	0	0	1	0	5	933				
ABCC11	85320	broad.mit.edu	37	16	48221210	48221210	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:48221210G>T	ENST00000394747.1	-	20	3184	c.2835C>A	c.(2833-2835)tcC>tcA	p.S945S	ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000353782.5_Silent_p.S945S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCACCATTAAGGACAGGACCA	0.468																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2833-2835)tcC>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							101.0	85.0	91.0					16																	48221210		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221210G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2835C>A	16.37:g.48221210G>T			Somatic				ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000353782.5_Silent_p.S945S	p.S945S	NM_033151.3	NP_149163.2	WXS	Illumina GAIIx	Phase_I	Q96J66	ABCCB_HUMAN			20	3184	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	945			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.2835C>A	CCDS10732.1																																																																																				0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	169	1	0	1.06961e-07	1	1.19545e-07	8	169				
C9orf64	84267	broad.mit.edu	37	9	86571165	86571165	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:86571165T>C	ENST00000376344.3	-	1	467	c.251A>G	c.(250-252)gAg>gGg	p.E84G	C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	84										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACACTTGTGCTCGTCCTGCTC	0.597																																						ENST00000376344.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(250-252)gAg>gGg		chromosome 9 open reading frame 64							124.0	123.0	123.0					9																	86571165		2078	4210	6288	SO:0001583	missense	84267							g.chr9:86571165T>C	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.251A>G	9.37:g.86571165T>C	ENSP00000365522:p.Glu84Gly		Somatic				C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	p.E84G	NM_032307.3	NP_115683.3	WXS	Illumina GAIIx	Phase_I	Q5T6V5	CI064_HUMAN			1	467	-			84					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.251A>G	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463396	0.63513	.	.	ENSG00000165118	ENST00000376344	.	.	.	5.16	5.16	0.70880	.	0.529041	0.21238	N	0.077879	T	0.52008	0.1708	L	0.47716	1.5	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.49113	-0.8973	9	0.23302	T	0.38	-17.8549	15.2904	0.73862	0.0:0.0:0.0:1.0	.	84	Q5T6V5	CI064_HUMAN	G	84	.	ENSP00000365522:E84G	E	-	2	0	C9orf64	85760985	0.968000	0.33430	0.937000	0.37676	0.976000	0.68499	2.580000	0.46068	2.083000	0.62718	0.379000	0.24179	GAG		0.597	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		4	365	0	0	0	1	0	4	365				
DIO1	1733	broad.mit.edu	37	1	54360161	54360161	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:54360161C>T	ENST00000361921.3	+	1	302	c.278C>T	c.(277-279)cCa>cTa	p.P93L	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L|DIO1_ENST00000525202.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGTCTGGCCCCAAACTGCCCG	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(277-279)cCa>cTa		deiodinase, iodothyronine, type I							50.0	44.0	46.0					1																	54360161		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360161C>T		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.278C>T	1.37:g.54360161C>T	ENSP00000354643:p.Pro93Leu		Somatic				DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L	p.P93L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	302	+			93					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.278C>T	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715767	0.68844	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	4.79	4.79	0.61399	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.89478	3.035	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.82070	-0.0639	10	0.87932	D	0	.	16.198	0.82043	0.0:1.0:0.0:0.0	.	93;93;93	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	L	50;93;93;93;93	ENSP00000432797:P50L;ENSP00000354643:P93L;ENSP00000323198:P93L;ENSP00000434758:P93L;ENSP00000373528:P93L	ENSP00000323198:P93L	P	+	2	0	DIO1	54132749	1.000000	0.71417	0.996000	0.52242	0.535000	0.34838	4.312000	0.59154	2.492000	0.84095	0.561000	0.74099	CCA		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			25	190	0	0	0	1	0	25	190				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1474-1476)cGt>cAt		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His		Somatic					p.R492H	NM_001137674.2	NP_001131146.2	WXS	Illumina GAIIx	Phase_I	A6NHJ4	ZN860_HUMAN			2	2024	+			492					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			3	94	0	0	0	1	0	3	94				
CNKSR2	22866	broad.mit.edu	37	X	21627366	21627366	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:21627366C>A	ENST00000379510.3	+	20	2359	c.2323C>A	c.(2323-2325)Cca>Aca	p.P775T	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P745T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	775					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATTGAGACGCCACTGACAAG	0.562																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2233-2235)Cca>Aca		connector enhancer of kinase suppressor of Ras 2							100.0	98.0	99.0					X																	21627366		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627366C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2323C>A	X.37:g.21627366C>A	ENSP00000368824:p.Pro775Thr		Somatic				CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T	p.P745T	NM_001168647.1	NP_001162118.1	WXS	Illumina GAIIx	Phase_I	Q8WXI2	CNKR2_HUMAN			19	2713	+			775					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2233C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981612	0.74474	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.38560	1.52;1.13;1.19;1.68	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.73962	2.25	0.58432	D	0.999999	P;D;D;D	0.89917	0.895;0.998;1.0;1.0	P;D;D;D	0.97110	0.725;0.928;0.998;1.0	T	0.70117	-0.4960	10	0.66056	D	0.02	-7.7798	18.4121	0.90555	0.0:1.0:0.0:0.0	.	745;726;367;775	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	T	745;726;775;775	ENSP00000397906:P745T;ENSP00000444633:P726T;ENSP00000279451:P775T;ENSP00000368824:P775T	ENSP00000279451:P775T	P	+	1	0	CNKSR2	21537287	1.000000	0.71417	0.933000	0.37362	0.986000	0.74619	7.013000	0.76373	2.289000	0.77006	0.513000	0.50165	CCA		0.562	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		22	172	1	0	2.44723e-14	1	2.89218e-14	22	172				
DNAH11	8701	broad.mit.edu	37	7	21892083	21892083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:21892083A>T	ENST00000409508.3	+	67	10927		c.e67-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTTTATTAGTTGGTATTG	0.403									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e68-1		dynein, axonemal, heavy chain 11							92.0	85.0	87.0					7																	21892083		1828	4077	5905	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21892083A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10897-1A>T	7.37:g.21892083A>T			Somatic				DNAH11_ENST00000409508.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			68	10948	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	a	21.4	4.142549	0.77888	.	.	ENSG00000105877	ENST00000328843;ENST00000421290	.	.	.	6.14	6.14	0.99180	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4552	0.84009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21858608	1.000000	0.71417	0.983000	0.44433	0.939000	0.58152	6.847000	0.75404	2.364000	0.80123	0.524000	0.50904	.		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	10	103	0	0	0	1	0	10	103				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	8	636	0	0	0	1	0	8	636				
CHRNB2	1141	broad.mit.edu	37	1	154544277	154544277	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154544277C>A	ENST00000368476.3	+	5	1242	c.978C>A	c.(976-978)ccC>ccA	p.P326P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	326					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACCGCTCGCCCACCACGCACA	0.632																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(976-978)ccC>ccA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						85.0	62.0	70.0					1																	154544277		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544277C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.978C>A	1.37:g.154544277C>A			Somatic					p.P326P	NM_000748.2	NP_000739.1	WXS	Illumina GAIIx	Phase_I	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1242	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		326					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.978C>A	CCDS1070.1																																																																																				0.632	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		6	151	1	0	0.0293803	1	0.0294998	6	151				
FN1	2335	broad.mit.edu	37	2	216236992	216236992	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:216236992C>A	ENST00000359671.1	-	39	6346	c.6081G>T	c.(6079-6081)ggG>ggT	p.G2027G	FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000354785.4_Silent_p.G2118G|FN1_ENST00000432072.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000323926.6_Silent_p.G2118G			P02751	FINC_HUMAN	fibronectin 1	2027	Connecting strand 3 (CS-3) (V region).			G -> R (in Ref. 5; CAD97965/CAD97964). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2027G(1)|p.G2118G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGTGTCATACCCAGGGTGGG	0.498																																						ENST00000354785.4																		FN1/ALK(2)	2	Substitution - coding silent(2)	p.G2027G(1)|p.G2118G(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6352-6354)ggG>ggT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	82.0	85.0					2																	216236992		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236992C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6081G>T	2.37:g.216236992C>A			Somatic				FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000323926.6_Silent_p.G2118G|FN1_ENST00000446046.1_Silent_p.G2002G	p.G2118G			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6723	-		Renal(323;0.127)	2027			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.6354G>T																																																																																					0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		67	104	1	0	1.34159e-35	1	1.60861e-35	67	104				
C22orf42	150297	broad.mit.edu	37	22	32546391	32546391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:32546391A>G	ENST00000382097.3	-	7	641	c.569T>C	c.(568-570)cTa>cCa	p.L190P	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	190										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGAGACAGATAGGCTTTCACT	0.438																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(568-570)cTa>cCa		chromosome 22 open reading frame 42							146.0	131.0	136.0					22																	32546391		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546391A>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.569T>C	22.37:g.32546391A>G	ENSP00000371529:p.Leu190Pro		Somatic					p.L190P	NM_001010859.1	NP_001010859.1	WXS	Illumina GAIIx	Phase_I	Q6IC83	CV042_HUMAN			7	641	-			190					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.569T>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	a	3.134	-0.177817	0.06380	.	.	ENSG00000205856	ENST00000382097	T	0.25749	1.78	0.637	-1.27	0.09347	.	.	.	.	.	T	0.20861	0.0502	N	0.08118	0	0.09310	N	1	D	0.54397	0.966	P	0.61070	0.883	T	0.15896	-1.0421	8	0.87932	D	0	.	.	.	.	.	190	Q6IC83	CV042_HUMAN	P	190	ENSP00000371529:L190P	ENSP00000371529:L190P	L	-	2	0	C22orf42	30876391	0.015000	0.18098	0.001000	0.08648	0.151000	0.21798	-0.473000	0.06615	-0.875000	0.04022	0.076000	0.15429	CTA		0.438	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		4	194	0	0	0	1	0	4	194				
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:11485944A>T	ENST00000423059.4	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2806-2808)agT>agA		thrombospondin, type I, domain containing 7A							127.0	124.0	125.0					7																	11485944		1798	4072	5870	SO:0001583	missense	221981					integral to membrane		g.chr7:11485944A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2808T>A	7.37:g.11485944A>T	ENSP00000406482:p.Ser936Arg	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.S936R	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3059	-			936			TSP type-1 9.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2808T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925251	0.73213	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61040	0.14	5.74	0.842	0.18927	.	0.035332	0.85682	D	0.000000	T	0.68979	0.3060	M	0.75615	2.305	0.58432	D	0.99999	D	0.71674	0.998	D	0.77557	0.99	T	0.65450	-0.6165	10	0.24483	T	0.36	.	9.7422	0.40424	0.7303:0.0:0.2697:0.0	.	936	Q9UPZ6	THS7A_HUMAN	R	936	ENSP00000406482:S936R	ENSP00000262042:S936R	S	-	3	2	THSD7A	11452469	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.480000	0.22244	0.432000	0.26286	0.482000	0.46254	AGT		0.338	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	247	0	0	0	1	0	5	247				
ZMYM3	9203	broad.mit.edu	37	X	70462203	70462203	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:70462203C>T	ENST00000353904.2	-	23	3806	c.3619G>A	c.(3619-3621)Gtc>Atc	p.V1207I	ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373998.1_Missense_Mutation_p.V1195I|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1207					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGGAGGACAAAGGGCGAG	0.537																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3583-3585)Gtc>Atc		zinc finger, MYM-type 3							97.0	65.0	76.0					X																	70462203		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462203C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3619G>A	X.37:g.70462203C>T	ENSP00000343909:p.Val1207Ile		Somatic				ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000373984.3_Intron	p.V1195I	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			23	4280	-	Renal(35;0.156)		1207					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3583G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	17.16	3.317584	0.60524	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.50813	1.33;0.73;1.33;1.32	4.68	3.78	0.43462	.	0.000000	0.64402	D	0.000009	T	0.48822	0.1521	L	0.46885	1.475	0.32741	N	0.507728	B;B	0.33318	0.355;0.408	B;B	0.43082	0.285;0.407	T	0.63056	-0.6722	10	0.46703	T	0.11	-12.591	13.4908	0.61393	0.1562:0.8438:0.0:0.0	.	1195;1207	Q14202-2;Q14202	.;ZMYM3_HUMAN	I	1207;1195;1207;1209	ENSP00000322845:V1207I;ENSP00000363110:V1195I;ENSP00000343909:V1207I;ENSP00000363100:V1209I	ENSP00000322845:V1207I	V	-	1	0	ZMYM3	70378928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.470000	0.53100	2.166000	0.68216	0.525000	0.51046	GTC		0.537	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	174	0	0	0	1	0	19	174				
SLC29A1	2030	broad.mit.edu	37	6	44198568	44198568	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:44198568G>A	ENST00000393841.1	+	9	1199	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q|SLC29A1_ENST00000393844.1_Silent_p.Q236Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	236					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GCTACTACCAGCAGCTCAAGC	0.542																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(706-708)caG>caA		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						87.0	100.0	95.0					6																	44198568		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198568G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.708G>A	6.37:g.44198568G>A			Somatic				SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q	p.Q236Q	NM_001078177.1	NP_001071645.1	WXS	Illumina GAIIx	Phase_I	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1199	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		236					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.708G>A	CCDS4908.1																																																																																				0.542	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	352	0	0	0	1	0	4	352				
PRKDC	5591	broad.mit.edu	37	8	48852194	48852194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:48852194G>A	ENST00000314191.2	-	11	1086	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	344					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCATAAAACTGCTCCATAAAG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(1030-1032)Cag>Tag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							97.0	93.0	94.0					8																	48852194		1862	4100	5962	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48852194G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1030C>T	8.37:g.48852194G>A	ENSP00000313420:p.Gln344*		Somatic				PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR	p.Q344*	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			11	1086	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	344					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.1030C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.664918	0.97747	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.73	5.73	0.89815	.	0.147706	0.46145	D	0.000314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.8869	0.96915	0.0:0.0:1.0:0.0	.	.	.	.	X	344	.	ENSP00000313420:Q344X	Q	-	1	0	PRKDC	49014747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.714000	0.61902	2.693000	0.91896	0.655000	0.94253	CAG		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	65	0	0	0	1	0	4	65				
AIFM2	84883	broad.mit.edu	37	10	71876416	71876416	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:71876416C>T	ENST00000307864.1	-	7	944	c.731G>A	c.(730-732)gGc>gAc	p.G244D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	244					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GATCTTGATGCCGGTGCAGAG	0.567											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(730-732)gGc>gAc		apoptosis-inducing factor, mitochondrion-associated, 2							142.0	131.0	135.0					10																	71876416		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71876416C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.731G>A	10.37:g.71876416C>T	ENSP00000312370:p.Gly244Asp		Somatic	OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D	p.G244D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	WXS	Illumina GAIIx	Phase_I	Q9BRQ8	AIFM2_HUMAN			7	944	-			244					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.731G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804581	0.90623	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.55052	0.54;0.54	5.33	5.33	0.75918	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85889	0.1427	10	0.87932	D	0	-23.6072	18.6264	0.91340	0.0:1.0:0.0:0.0	.	244	Q9BRQ8	AIFM2_HUMAN	D	244;244;207	ENSP00000362345:G244D;ENSP00000312370:G244D	ENSP00000312370:G244D	G	-	2	0	AIFM2	71546422	1.000000	0.71417	0.451000	0.26982	0.739000	0.42172	7.475000	0.81041	2.512000	0.84698	0.655000	0.94253	GGC		0.567	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		4	248	0	0	0	1	0	4	248				
RRM1	6240	broad.mit.edu	37	11	4153518	4153518	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:4153518A>T	ENST00000300738.5	+	16	1976	c.1772A>T	c.(1771-1773)tAt>tTt	p.Y591F	RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F|RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	591					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTCTTTAGGTATGGTATAAGA	0.408																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1771-1773)tAt>tTt		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						100.0	92.0	95.0					11																	4153518		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4153518A>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1772A>T	11.37:g.4153518A>T	ENSP00000300738:p.Tyr591Phe		Somatic				RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F	p.Y591F	NM_001033.3	NP_001024.1	WXS	Illumina GAIIx	Phase_I	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	16	1976	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	591					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1772A>T	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373171	0.61624	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.94	4.94	0.65067	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.196102	0.44902	D	0.000406	T	0.39358	0.1075	L	0.49571	1.57	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26985	-1.0087	10	0.52906	T	0.07	-10.1654	13.7227	0.62737	1.0:0.0:0.0:0.0	.	591	P23921	RIR1_HUMAN	F	591;494;504;369;369;253	ENSP00000300738:Y591F;ENSP00000390539:Y494F;ENSP00000431464:Y369F;ENSP00000442148:Y253F	ENSP00000300738:Y591F	Y	+	2	0	RRM1	4110094	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.887000	0.69751	1.979000	0.57680	0.455000	0.32223	TAT		0.408	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		4	125	0	0	0	1	0	4	125				
OR51Q1	390061	broad.mit.edu	37	11	5443935	5443935	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5443935C>T	ENST00000300778.4	+	1	595	c.505C>T	c.(505-507)Cct>Tct	p.P169S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169						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(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCGACTGCCTTTCTGCCA	0.517																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(505-507)Cct>Tct		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							210.0	196.0	201.0					11																	5443935		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443935C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.505C>T	11.37:g.5443935C>T	ENSP00000300778:p.Pro169Ser		Somatic				HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.P169S	NM_001004757.2	NP_001004757.1	WXS	Illumina GAIIx	Phase_I	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	595	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	169					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.505C>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634762	0.29068	.	.	ENSG00000167360	ENST00000300778	T	0.00164	8.64	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.108661	0.41712	D	0.000823	T	0.00328	0.0010	L	0.39147	1.195	0.42082	D	0.991256	D	0.89917	1.0	D	0.97110	1.0	D	0.99449	1.0940	10	0.18710	T	0.47	.	17.191	0.86879	0.0:1.0:0.0:0.0	.	169	Q8NH59	O51Q1_HUMAN	S	169	ENSP00000300778:P169S	ENSP00000300778:P169S	P	+	1	0	OR51Q1	5400511	0.000000	0.05858	1.000000	0.80357	0.237000	0.25408	0.067000	0.14510	2.641000	0.89580	0.380000	0.24917	CCT		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	695	0	0	0	1	0	7	695				
CBL	867	broad.mit.edu	37	11	119149404	119149404	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:119149404A>G	ENST00000264033.4	+	9	1788	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	471	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTCATGATGAAGGAATTGGCT	0.463			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1411-1413)aAg>aGg		Cbl proto-oncogene, E3 ubiquitin protein ligase							77.0	82.0	80.0					11																	119149404		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149404A>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1412A>G	11.37:g.119149404A>G	ENSP00000264033:p.Lys471Arg		Somatic					p.K471R	NM_005188.3	NP_005179.2	WXS	Illumina GAIIx	Phase_I	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1788	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	471			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1412A>G	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062807	0.36373	.	.	ENSG00000110395	ENST00000264033	T	0.77620	-1.11	5.96	5.96	0.96718	.	0.247650	0.45867	D	0.000327	T	0.68933	0.3055	L	0.44542	1.39	0.37147	D	0.901977	P	0.34462	0.454	B	0.29598	0.104	T	0.70077	-0.4971	10	0.15066	T	0.55	-41.5853	16.4484	0.83959	1.0:0.0:0.0:0.0	.	471	P22681	CBL_HUMAN	R	471	ENSP00000264033:K471R	ENSP00000264033:K471R	K	+	2	0	CBL	118654614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.931000	0.63469	2.285000	0.76669	0.533000	0.62120	AAG		0.463	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		3	137	0	0	0	1	0	3	137				
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111694794A>T	ENST00000358835.3	-	14	5218	c.4764T>A	c.(4762-4764)agT>agA	p.S1588R	REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000435970.1_Missense_Mutation_p.S1510R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4528-4530)agT>agA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							176.0	184.0	181.0					6																	111694794		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694794A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4764T>A	6.37:g.111694794A>T	ENSP00000351697:p.Ser1588Arg		Somatic				REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R	p.S1510R			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5346	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1588					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4530T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	8.135	0.783964	0.16189	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	6.04	4.86	0.63082	Ribonuclease H-like (1);	0.338132	0.33534	N	0.004805	T	0.00524	0.0017	N	0.25647	0.755	0.24738	N	0.993058	B	0.11235	0.004	B	0.06405	0.002	T	0.50021	-0.8876	10	0.33141	T	0.24	-0.7701	5.553	0.17101	0.7325:0.0:0.1342:0.1333	.	1588	O60673	DPOLZ_HUMAN	R	1588;1588;1588;1510	ENSP00000357792:S1588R;ENSP00000357795:S1588R;ENSP00000351697:S1588R;ENSP00000402003:S1510R	ENSP00000351697:S1588R	S	-	3	2	REV3L	111801487	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.554000	0.45845	1.065000	0.40693	0.460000	0.39030	AGT		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		8	426	0	0	0	1	0	8	426				
LRRN3	54674	broad.mit.edu	37	7	110763992	110763992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:110763992C>T	ENST00000422987.3	+	2	1995	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Silent_p.F388F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	388	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACATTCGATTCATGGAGCCAG	0.463																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1162-1164)ttC>ttT		leucine rich repeat neuronal 3							107.0	88.0	95.0					7																	110763992		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763992C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1164C>T	7.37:g.110763992C>T			Somatic				IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron	p.F388F	NM_001099660.1	NP_001093130.1	WXS	Illumina GAIIx	Phase_I	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2210	+			388			LRRCT.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.1164C>T	CCDS5754.1																																																																																				0.463	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	187	0	0	0	1	0	7	187				
DNAH10	196385	broad.mit.edu	37	12	124377846	124377846	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:124377846C>A	ENST00000409039.3	+	52	8733	c.8708C>A	c.(8707-8709)gCt>gAt	p.A2903D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2903	AAA 4. {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)		GGACAGGAAGCTCTGAAGCAA	0.498																																						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.(8707-8709)gCt>gAt		dynein, axonemal, heavy chain 10							69.0	74.0	73.0					12																	124377846		2048	4215	6263	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124377846C>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.8708C>A	12.37:g.124377846C>A	ENSP00000386770:p.Ala2903Asp		Somatic					p.A2903D	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)	52	8733	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2903			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8708C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563211	0.86335	.	.	ENSG00000197653	ENST00000409039	T	0.44083	0.93	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.074149	0.53938	U	0.000051	T	0.66268	0.2772	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68667	-0.5348	10	0.51188	T	0.08	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	2903	Q8IVF4	DYH10_HUMAN	D	2903	ENSP00000386770:A2903D	ENSP00000386770:A2903D	A	+	2	0	DNAH10	122943799	1.000000	0.71417	0.274000	0.24659	0.029000	0.11900	7.548000	0.82154	2.621000	0.88768	0.561000	0.74099	GCT		0.498	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	175	1	0	0.184627	1	0.184627	4	175				
KAT8	84148	broad.mit.edu	37	16	31141445	31141445	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:31141445G>A	ENST00000543774.2	+	8	1214	c.879G>A	c.(877-879)cgG>cgA	p.R293R	KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	293	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										AGGTGGACCGGCAGGGGGCCC	0.577																																						ENST00000543774.2																			0											c.(877-879)cgG>cgA		K(lysine) acetyltransferase 8							168.0	179.0	176.0					16																	31141445		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141445G>A	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.879G>A	16.37:g.31141445G>A			Somatic				KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R	p.R293R			WXS	Illumina GAIIx	Phase_I	Q9H7Z6	MYST1_HUMAN			8	1214	+			293					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.879G>A	CCDS10706.1																																																																																				0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		5	410	0	0	0	1	0	5	410				
CLC	1178	broad.mit.edu	37	19	40222097	40222097	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:40222097G>A	ENST00000221804.4	-	4	427	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	118	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACAGCCTCAGGCTTGATTCTA	0.398																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(352-354)Cct>Tct		Charcot-Leyden crystal galectin							178.0	174.0	176.0					19																	40222097		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40222097G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.352C>T	19.37:g.40222097G>A	ENSP00000221804:p.Pro118Ser		Somatic					p.P118S	NM_001828.5	NP_001819.2	WXS	Illumina GAIIx	Phase_I	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	4	427	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	118			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.352C>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	2.056	-0.416554	0.04766	.	.	ENSG00000105205	ENST00000221804	T	0.18016	2.24	0.659	-1.19	0.09585	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.21962	0.0529	M	0.86343	2.81	0.09310	N	1	P	0.44816	0.844	P	0.45037	0.467	T	0.17410	-1.0370	8	0.22109	T	0.4	.	.	.	.	.	118	Q05315	LPPL_HUMAN	S	118	ENSP00000221804:P118S	ENSP00000221804:P118S	P	-	1	0	CLC	44913937	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.217000	0.17603	-1.703000	0.01409	-1.224000	0.01588	CCT		0.398	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		8	685	0	0	0	1	0	8	685				
GPR126	57211	broad.mit.edu	37	6	142691426	142691426	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:142691426G>A	ENST00000230173.6	+	4	1041	c.565G>A	c.(565-567)Gca>Aca	p.A189T	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000296932.8_Missense_Mutation_p.A189T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	189	Pentaxin.				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.A189T(1)|p.A188T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCTTTGAAGCAACCAAAGT	0.438																																						ENST00000230173.6																			2	Substitution - Missense(2)	p.A189T(1)|p.A188T(1)	kidney(2)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(565-567)Gca>Aca		G protein-coupled receptor 126							76.0	68.0	70.0					6																	142691426		1909	4145	6054	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691426G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.565G>A	6.37:g.142691426G>A	ENSP00000230173:p.Ala189Thr		Somatic				GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron	p.A189T	NM_020455.5	NP_065188.4	WXS	Illumina GAIIx	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1041	+	Breast(32;0.176)		189			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.565G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495673	0.64186	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;3.29	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096044	0.45606	D	0.000343	T	0.68686	0.3028	M	0.67953	2.075	0.34058	D	0.656946	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.992	D;D;D;D;P	0.71656	0.94;0.94;0.956;0.974;0.813	T	0.71133	-0.4681	10	0.49607	T	0.09	.	18.6937	0.91593	0.0:0.0:1.0:0.0	.	189;189;189;189;188	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	T	189;189;189;189;188	ENSP00000230173:A189T;ENSP00000356580:A189T;ENSP00000296932:A189T;ENSP00000356581:A189T;ENSP00000446287:A188T	ENSP00000230173:A189T	A	+	1	0	GPR126	142733119	1.000000	0.71417	0.997000	0.53966	0.400000	0.30750	7.032000	0.76498	2.424000	0.82194	0.650000	0.86243	GCA		0.438	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			24	97	0	0	0	1	0	24	97				
ACBD3	64746	broad.mit.edu	37	1	226340280	226340280	+	Silent	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:226340280T>G	ENST00000366812.5	-	7	1185	c.1131A>C	c.(1129-1131)cgA>cgC	p.R377R	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	377					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGATCTGAGGTCGTGTCCACA	0.468																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1129-1131)cgA>cgC		acyl-CoA binding domain containing 3							145.0	150.0	148.0					1																	226340280		2203	4300	6503	SO:0001819	synonymous_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340280T>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1131A>C	1.37:g.226340280T>G			Somatic				RP11-275I14.4_ENST00000440540.1_RNA	p.R377R	NM_022735.3	NP_073572.2	WXS	Illumina GAIIx	Phase_I	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1185	-	Breast(184;0.158)		377					B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Silent	SNP	ENST00000366812.5	37	c.1131A>C	CCDS1551.1																																																																																				0.468	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		7	259	0	0	0	1	0	7	259				
PLCH1	23007	broad.mit.edu	37	3	155303879	155303879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:155303879C>T	ENST00000340059.7	-	4	538	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.R162Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	180	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTTTTCTTCGGGGCAGATT	0.363																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(484-486)cGa>cAa		phospholipase C, eta 1							125.0	123.0	124.0					3																	155303879		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155303879C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.539G>A	3.37:g.155303879C>T	ENSP00000345988:p.Arg180Gln		Somatic				PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q	p.R162Q			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	842	-			180			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.485G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575904	0.96553	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.51	5.51	0.81932	EF-hand-like domain (1);	0.080716	0.49305	N	0.000154	T	0.79364	0.4433	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.976;0.989;0.934	T	0.79843	-0.1632	10	0.54805	T	0.06	.	19.4394	0.94811	0.0:1.0:0.0:0.0	.	162;180;180	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	180;162;180;180;162;162	ENSP00000419100:R180Q;ENSP00000417502:R162Q;ENSP00000402759:R180Q;ENSP00000345988:R180Q;ENSP00000335469:R162Q;ENSP00000412977:R162Q	ENSP00000335469:R162Q	R	-	2	0	PLCH1	156786573	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.711000	0.84669	2.581000	0.87130	0.655000	0.94253	CGA		0.363	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		90	349	0	0	0	1	0	90	349				
MOCOS	55034	broad.mit.edu	37	18	33795583	33795583	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:33795583C>A	ENST00000261326.5	+	8	1461	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGTCCAGGCCTTTCTTAGGT	0.552																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1438-1440)gcC>gcA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						68.0	66.0	67.0					18																	33795583		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795583C>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1440C>A	18.37:g.33795583C>A			Somatic					p.A480A	NM_017947.2	NP_060417.2	WXS	Illumina GAIIx	Phase_I	Q96EN8	MOCOS_HUMAN			8	1461	+			480						Silent	SNP	ENST00000261326.5	37	c.1440C>A	CCDS11919.1																																																																																				0.552	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			15	160	1	0	8.00594e-06	1	8.6731e-06	15	160				
RFX2	5990	broad.mit.edu	37	19	6013023	6013023	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:6013023C>T	ENST00000303657.5	-	8	1022	c.873G>A	c.(871-873)cgG>cgA	p.R291R	RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.R266R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGCTGCTGCCGCATGGCCA	0.617																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(871-873)cgG>cgA		regulatory factor X, 2 (influences HLA class II expression)							99.0	100.0	99.0					19																	6013023		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6013023C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.873G>A	19.37:g.6013023C>T			Somatic				CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.R291R|RFX2_ENST00000592546.1_Silent_p.R266R	p.R291R	NM_000635.3	NP_000626.2	WXS	Illumina GAIIx	Phase_I	P48378	RFX2_HUMAN			8	1022	-			291					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.873G>A	CCDS12157.1																																																																																				0.617	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		5	372	0	0	0	1	0	5	372				
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTCTTCCTTAGTTTACCCTC	0.517																																						ENST00000249344.2																			0											c.e9-1		striatin interacting protein 2							54.0	57.0	56.0					7																	129096278		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129096278A>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.835-1A>T	7.37:g.129096278A>T			Somatic				STRIP2_ENST00000435494.2_Splice_Site		NM_020704.2	NP_065755.1	WXS	Illumina GAIIx	Phase_I					9	874	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37		CCDS34752.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597735	0.87055	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128883514	1.000000	0.71417	0.949000	0.38748	0.924000	0.55760	8.875000	0.92372	2.226000	0.72624	0.459000	0.35465	.		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron	7	300	0	0	0	1	0	7	300				
EGR1	1958	broad.mit.edu	37	5	137802543	137802543	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:137802543C>T	ENST00000239938.4	+	2	677	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	135					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTATACTGGCCGCTTTTCCC	0.582																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(403-405)ggC>ggT		early growth response 1							96.0	104.0	102.0					5																	137802543		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802543C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.405C>T	5.37:g.137802543C>T			Somatic					p.G135G	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	677	+			135						Silent	SNP	ENST00000239938.4	37	c.405C>T	CCDS4206.1																																																																																				0.582	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		5	92	0	0	0	1	0	5	92				
PAQR3	152559	broad.mit.edu	37	4	79845029	79845029	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:79845029G>T	ENST00000512733.1	-	5	988	c.775C>A	c.(775-777)Cca>Aca	p.P259T	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	259					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TACCGCTCTGGGACTTTGGAA	0.373																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(775-777)Cca>Aca		progestin and adipoQ receptor family member III							87.0	80.0	83.0					4																	79845029		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79845029G>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.775C>A	4.37:g.79845029G>T	ENSP00000421981:p.Pro259Thr		Somatic				PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	p.P259T	NM_001040202.1	NP_001035292.1	WXS	Illumina GAIIx	Phase_I	Q6TCH7	PAQR3_HUMAN			5	988	-			259					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.775C>A	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384192	0.82792	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.81163	-1.46;-1.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93470	0.6818	10	0.87932	D	0	-21.8408	19.6296	0.95694	0.0:0.0:1.0:0.0	.	259	Q6TCH7	PAQR3_HUMAN	T	259	ENSP00000421981:P259T;ENSP00000370019:P259T	ENSP00000344203:P259T	P	-	1	0	PAQR3	80064053	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.716000	0.98752	2.644000	0.89710	0.655000	0.94253	CCA		0.373	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		13	183	1	0	6.81908e-15	1	8.09765e-15	13	183				
SYTL4	94121	broad.mit.edu	37	X	99955907	99955907	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:99955907C>T	ENST00000372989.1	-	7	856	c.525G>A	c.(523-525)cgG>cgA	p.R175R	SYTL4_ENST00000455616.1_Silent_p.R175R|SYTL4_ENST00000372981.1_Silent_p.R175R|SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCTCCTTCTGCCGCTCCTGAA	0.383																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(523-525)cgG>cgA		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						127.0	114.0	119.0					X																	99955907		2203	4300	6503	SO:0001819	synonymous_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99955907C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.525G>A	X.37:g.99955907C>T			Somatic				SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R	p.R175R			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			5	711	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	c.525G>A	CCDS14472.1																																																																																				0.383	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		4	330	0	0	0	1	0	4	330				
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:11411762C>G	ENST00000304623.8	-	5	514	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(325-327)Ggt>Cgt		catenin (cadherin-associated protein), delta 2							75.0	71.0	72.0					5																	11411762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411762C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.325G>C	5.37:g.11411762C>G	ENSP00000307134:p.Gly109Arg		Somatic				CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R	p.G109R	NM_001332.2	NP_001323.1	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			5	514	-			109					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.325G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828219	0.90955	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.91631	-1.08;-1.15;-1.11;-2.88	5.86	5.86	0.93980	Armadillo-like helical (1);	0.063063	0.64402	D	0.000007	D	0.95124	0.8420	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94516	0.7723	10	0.52906	T	0.07	-12.1045	20.1951	0.98241	0.0:1.0:0.0:0.0	.	18;109	B4DRK2;Q9UQB3	.;CTND2_HUMAN	R	109;109;18;18;95;18;95	ENSP00000307134:G109R;ENSP00000352661:G109R;ENSP00000426510:G18R;ENSP00000426887:G18R	ENSP00000307134:G109R	G	-	1	0	CTNND2	11464762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.431000	0.80335	2.780000	0.95670	0.585000	0.79938	GGT		0.338	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		15	40	0	0	0	1	0	15	40				
CHEK2P2	646096	broad.mit.edu	37	15	20490520	20490520	+	RNA	SNP	G	G	A	rs71466675	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:20490520G>A	ENST00000555186.1	+	0	500					NR_038836.1				checkpoint kinase 2 pseudogene 2																		ACCTTGTCAAGAAGTTGTTGG	0.433																																						ENST00000555186.1																			0																																																			646096							g.chr15:20490520G>A			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490520G>A			Somatic						NR_038836.1		WXS	Illumina GAIIx	Phase_I					0	500	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.433	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		4	581	0	0	0	1	0	4	581				
SIK2	23235	broad.mit.edu	37	11	111591712	111591712	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:111591712A>C	ENST00000304987.3	+	12	2043	c.1870A>C	c.(1870-1872)Ata>Cta	p.I624L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	624					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I624L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGAACAAATAGGACCGGA	0.507																																						ENST00000304987.3																			1	Substitution - Missense(1)	p.I624L(1)	kidney(1)	breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1870-1872)Ata>Cta		salt-inducible kinase 2							93.0	96.0	95.0					11																	111591712		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591712A>C	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1870A>C	11.37:g.111591712A>C	ENSP00000305976:p.Ile624Leu		Somatic					p.I624L	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			12	2043	+			624					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1870A>C	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517812	0.44763	.	.	ENSG00000170145	ENST00000304987	T	0.69806	-0.43	6.17	0.889	0.19212	.	0.198851	0.64402	N	0.000011	T	0.46229	0.1382	N	0.19112	0.55	0.23089	N	0.998318	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.32370	T	0.25	.	9.5189	0.39122	0.5355:0.3521:0.0:0.1124	.	624	Q9H0K1	SIK2_HUMAN	L	624	ENSP00000305976:I624L	ENSP00000305976:I624L	I	+	1	0	SIK2	111096922	0.987000	0.35691	0.002000	0.10522	0.502000	0.33828	2.615000	0.46368	0.163000	0.19507	0.533000	0.62120	ATA		0.507	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		3	208	0	0	0	1	0	3	208				
ABCG4	64137	broad.mit.edu	37	11	119024975	119024975	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:119024975C>T	ENST00000449422.2	+	4	550	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F|ABCG4_ENST00000307417.3_Missense_Mutation_p.S121F	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	121	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCAGGGAGTCTGGAATGAAG	0.542																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(361-363)tCt>tTt		ATP-binding cassette, sub-family G (WHITE), member 4							70.0	62.0	64.0					11																	119024975		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024975C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.362C>T	11.37:g.119024975C>T	ENSP00000406874:p.Ser121Phe		Somatic				ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F|ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F	p.S121F	NM_022169.4	NP_071452.2	WXS	Illumina GAIIx	Phase_I	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	726	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	121			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.362C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904918	0.52333	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.22	2.24	0.28232	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.346517	0.32836	N	0.005597	D	0.90789	0.7108	L	0.55990	1.75	0.35054	D	0.760943	B	0.27971	0.196	B	0.34452	0.183	D	0.88660	0.3188	10	0.66056	D	0.02	-1.7315	9.5165	0.39109	0.0:0.6539:0.2701:0.0759	.	121	Q9H172	ABCG4_HUMAN	F	121	ENSP00000304111:S121F;ENSP00000431915:S121F;ENSP00000406874:S121F;ENSP00000434318:S121F	ENSP00000304111:S121F	S	+	2	0	ABCG4	118530185	0.975000	0.34042	0.855000	0.33649	0.598000	0.36846	2.429000	0.44758	0.183000	0.20059	-0.440000	0.05779	TCT		0.542	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		5	208	0	0	0	1	0	5	208				
SLC44A2	57153	broad.mit.edu	37	19	10748947	10748947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:10748947C>T	ENST00000335757.5	+	20	2261	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	AC011475.1_ENST00000430975.1_5'Flank|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	629					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGGATCGTGCAGGATACAGC	0.502																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1885-1887)Cag>Tag		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						181.0	166.0	171.0					19																	10748947		2203	4300	6503	SO:0001587	stop_gained	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748947C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1885C>T	19.37:g.10748947C>T	ENSP00000336888:p.Gln629*		Somatic				SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*	p.Q629*	NM_020428.3	NP_065161.3	WXS	Illumina GAIIx	Phase_I	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		20	1994	+			629					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Nonsense_Mutation	SNP	ENST00000335757.5	37	c.1885C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	38	7.250279	0.98164	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	.	.	.	5.76	4.7	0.59300	.	0.161129	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-13.3486	15.6279	0.76878	0.0:0.8619:0.1381:0.0	.	.	.	.	X	627;629;629	.	ENSP00000336888:Q629X	Q	+	1	0	SLC44A2	10609947	0.982000	0.34865	1.000000	0.80357	0.931000	0.56810	2.007000	0.40883	1.400000	0.46741	0.561000	0.74099	CAG		0.502	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			5	558	0	0	0	1	0	5	558				
DCHS2	54798	broad.mit.edu	37	4	155252835	155252835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:155252835C>A	ENST00000357232.4	-	10	2264	c.2265G>T	c.(2263-2265)tgG>tgT	p.W755C	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	755	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACCATCTGCCCAGGTTATGA	0.468																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2263-2265)tgG>tgT		dachsous cadherin-related 2							60.0	52.0	55.0					4																	155252835		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155252835C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2265G>T	4.37:g.155252835C>A	ENSP00000349768:p.Trp755Cys		Somatic				DCHS2_ENST00000339452.1_Intron	p.W755C	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	10	2264	-	all_hematologic(180;0.208)	Renal(120;0.0854)	755			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2265G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431222	0.12045	.	.	ENSG00000197410	ENST00000357232	T	0.53423	0.62	3.53	-0.48	0.12085	Cadherin (2);Cadherin-like (1);	1.978870	0.02722	N	0.114157	T	0.27205	0.0667	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	10	0.39692	T	0.17	.	9.3896	0.38365	0.4182:0.5818:0.0:0.0	.	755	Q6V1P9	PCD23_HUMAN	C	755	ENSP00000349768:W755C	ENSP00000349768:W755C	W	-	3	0	DCHS2	155472285	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.658000	0.24979	-0.066000	0.12998	-0.397000	0.06425	TGG		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	48	1	0	0.0215528	1	0.0219075	5	48				
PAX7	5081	broad.mit.edu	37	1	18962797	18962797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:18962797C>T	ENST00000375375.3	+	4	1116	c.518C>T	c.(517-519)gCg>gTg	p.A173V	PAX7_ENST00000400661.3_Missense_Mutation_p.A171V|PAX7_ENST00000420770.2_Missense_Mutation_p.A173V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	173	Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		gaggatgaagcggacaagaag	0.527			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(517-519)gCg>gTg		paired box 7							217.0	188.0	198.0					1																	18962797		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18962797C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.518C>T	1.37:g.18962797C>T	ENSP00000364524:p.Ala173Val		Somatic				PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V	p.A173V	NM_001135254.1	NP_001128726.1	WXS	Illumina GAIIx	Phase_I	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	4	601	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	173					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.518C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865518	0.32977	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.94966	-3.57;-3.55;-3.57	4.88	-2.02	0.07388	.	0.930931	0.08913	N	0.875581	D	0.86912	0.6047	N	0.24115	0.695	0.26187	N	0.979646	B;P;B	0.44344	0.242;0.833;0.013	B;B;B	0.34138	0.054;0.176;0.004	T	0.76498	-0.2937	10	0.34782	T	0.22	.	12.1015	0.53788	0.0:0.2134:0.6962:0.0904	.	173;171;173	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	173;173;171	ENSP00000364524:A173V;ENSP00000403389:A173V;ENSP00000383502:A171V	ENSP00000364524:A173V	A	+	2	0	PAX7	18835384	0.939000	0.31865	0.160000	0.22671	0.952000	0.60782	1.660000	0.37397	-0.099000	0.12263	0.467000	0.42956	GCG		0.527	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		4	166	0	0	0	1	0	4	166				
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	SNP	A	A	T	rs568659333	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:159618709A>T	ENST00000511912.1	+	8	1163		c.e8-1		ETFDH_ENST00000307738.5_Splice_Site	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase						cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTTTTTAGTTATGGGTT	0.348													A|||	14	0.00279553	0.0038	0.0029	5008	,	,		15561	0.001		0.004	False		,,,				2504	0.002					ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.e8-1		electron-transferring-flavoprotein dehydrogenase							54.0	58.0	56.0					4																	159618709		2202	4300	6502	SO:0001630	splice_region_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159618709A>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.832-1A>T	4.37:g.159618709A>T			Somatic				ETFDH_ENST00000307738.5_Splice_Site		NM_004453.2	NP_004444.2	WXS	Illumina GAIIx	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	8	1163	+	all_hematologic(180;0.24)	Renal(120;0.0458)						B4E3R9|J3KND9|Q7Z347	Splice_Site	SNP	ENST00000511912.1	37		CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536374	0.85812	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6957	0.77494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ETFDH	159838159	1.000000	0.71417	0.904000	0.35570	0.972000	0.66771	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	.		0.348	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		Intron	4	61	0	0	0	1	0	4	61				
SCMH1	22955	broad.mit.edu	37	1	41579034	41579034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:41579034G>T	ENST00000326197.7	-	7	935	c.636C>A	c.(634-636)tgC>tgA	p.C212*	SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*|SCMH1_ENST00000402904.2_Nonsense_Mutation_p.C212*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000456518.2_Intron					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AGTCGAAGCGGCACCAGTAGT	0.567																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(634-636)tgC>tgA		sex comb on midleg homolog 1 (Drosophila)							112.0	108.0	110.0					1																	41579034		2203	4300	6503	SO:0001587	stop_gained	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579034G>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.636C>A	1.37:g.41579034G>T	ENSP00000318094:p.Cys212*		Somatic				SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*	p.C212*	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			8	1004	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	212						Nonsense_Mutation	SNP	ENST00000326197.7	37	c.636C>A	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	40	8.350594	0.98772	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	5.92	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0216	0.47722	0.1566:0.0:0.8434:0.0	.	.	.	.	X	165;212;192;151;151;165;151;222;151;212	.	ENSP00000318094:C212X	C	-	3	2	SCMH1	41351621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.087000	0.50167	2.809000	0.96659	0.557000	0.71058	TGC		0.567	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			3	70	1	0	2.56e-06	1	2.79788e-06	3	70				
BID	637	broad.mit.edu	37	22	18220987	18220987	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18220987G>C	ENST00000399774.3	-	5	541	c.372C>G	c.(370-372)aaC>aaG	p.N124K	BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_Missense_Mutation_p.N170K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.N170K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CCAGGTCCCTGTTCCGGTCCT	0.557																																						ENST00000317361.7																			1	Substitution - Missense(1)	p.N170K(1)	kidney(1)	large_intestine(2)|ovary(1)	3						c.(508-510)aaC>aaG		BH3 interacting domain death agonist							51.0	47.0	48.0					22																	18220987		2203	4300	6503	SO:0001583	missense	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18220987G>C	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.372C>G	22.37:g.18220987G>C	ENSP00000382674:p.Asn124Lys		Somatic				BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000342111.5_3'UTR	p.N170K	NM_197966.2	NP_932070.1	WXS	Illumina GAIIx	Phase_I	P55957	BID_HUMAN		Lung(27;0.0419)	5	836	-		all_epithelial(15;0.198)	124					Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	c.510C>G	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907224	0.17833	.	.	ENSG00000015475	ENST00000317361;ENST00000399767;ENST00000399774;ENST00000399765;ENST00000551952	T;T;T;T;T	0.22336	1.96;2.05;1.96;2.05;1.96	5.31	0.153	0.14897	.	0.607966	0.16818	N	0.198278	T	0.10637	0.0260	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.007	T	0.36089	-0.9762	10	0.11794	T	0.64	.	5.5063	0.16856	0.0:0.4672:0.31:0.2228	.	124;170	P55957;P55957-2	BID_HUMAN;.	K	170;28;124;28;124	ENSP00000318822:N170K;ENSP00000382669:N28K;ENSP00000382674:N124K;ENSP00000382667:N28K;ENSP00000449236:N124K	ENSP00000318822:N170K	N	-	3	2	BID	16600987	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.002000	0.03686	0.235000	0.21160	-0.147000	0.13772	AAC		0.557	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		61	36	0	0	0	1	0	61	36				
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(3145-3147)acT>acA		CCAAT/enhancer binding protein (C/EBP), zeta							37.0	37.0	37.0					2																	37428925		2203	4299	6502	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428925A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3147T>A	2.37:g.37428925A>T			Somatic				AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron	p.T1049T	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			16	3292	-		all_hematologic(82;0.21)	1049					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.3147T>A	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		3	21	0	0	0	1	0	3	21				
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:67576514A>G	ENST00000379312.3	+	13	1958	c.1837A>G	c.(1837-1839)Acc>Gcc	p.T613A	FAM65A_ENST00000540839.3_Missense_Mutation_p.T629A|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1885-1887)Acc>Gcc		family with sequence similarity 65, member A							432.0	402.0	412.0					16																	67576514		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576514A>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1837A>G	16.37:g.67576514A>G	ENSP00000368614:p.Thr613Ala		Somatic				FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|CTD-2012K14.3_ENST00000563083.1_RNA	p.T629A			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2105	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	613			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1885A>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.59|11.59	1.683901|1.683901	0.29872|0.29872	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.16743|.	2.32;2.32;2.32|.	4.72|4.72	0.699|0.699	0.18093|0.18093	.|.	0.737333|.	0.13664|.	N|.	0.371414|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.34782|.	T|.	0.22|.	-2.8541|-2.8541	7.4237|7.4237	0.27085|0.27085	0.6584:0.0:0.3416:0.0|0.6584:0.0:0.3416:0.0	.|.	623;629;613;629|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	A|C	613;609;629;623|603	ENSP00000368614:T613A;ENSP00000042381:T609A;ENSP00000400099:T629A|.	ENSP00000042381:T609A|.	T|Y	+|+	1|2	0|0	FAM65A|FAM65A	66134015|66134015	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.094000|0.094000	0.18550|0.18550	-0.846000|-0.846000	0.04336|0.04336	0.270000|0.270000	0.21984|0.21984	-0.677000|-0.677000	0.03784|0.03784	ACC|TAC		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		4	183	0	0	0	1	0	4	183				
METTL8	79828	broad.mit.edu	37	2	172196066	172196066	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:172196066T>A	ENST00000375258.4	-	4	451		c.e4-2			NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8							cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CATACTTAACTAAAATAAAGA	0.269																																						ENST00000375258.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						c.e4-2		methyltransferase like 8							19.0	20.0	20.0					2																	172196066		2174	4198	6372	SO:0001630	splice_region_variant	79828						methyltransferase activity	g.chr2:172196066T>A	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.236-2A>T	2.37:g.172196066T>A			Somatic								WXS	Illumina GAIIx	Phase_I	B3KW44	B3KW44_HUMAN			4	451	-								Q53TM9|Q53TQ0	Splice_Site	SNP	ENST00000375258.4	37			.	.	.	.	.	.	.	.	.	.	T	17.20	3.329111	0.60743	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2183	0.82241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL8	171904312	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.341000	0.79300	2.234000	0.73211	0.477000	0.44152	.		0.269	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	Intron	4	75	0	0	0	1	0	4	75				
IL2RB	3560	broad.mit.edu	37	22	37524564	37524564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:37524564G>A	ENST00000216223.5	-	10	1426	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	410					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTGACAGAGGCTGCAGGGGT	0.652																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1228-1230)Cct>Tct		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						33.0	35.0	35.0					22																	37524564		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524564G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1228C>T	22.37:g.37524564G>A	ENSP00000216223:p.Pro410Ser		Somatic					p.P410S	NM_000878.3	NP_000869.1	WXS	Illumina GAIIx	Phase_I	P14784	IL2RB_HUMAN			10	1426	-			410					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1228C>T	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701594	0.48307	.	.	ENSG00000100385	ENST00000216223	T	0.12672	2.66	4.49	-0.311	0.12761	.	0.837191	0.10735	N	0.640188	T	0.24198	0.0586	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.12553	-1.0543	10	0.51188	T	0.08	-3.2214	3.6551	0.08218	0.1905:0.0:0.4703:0.3392	.	410	P14784	IL2RB_HUMAN	S	410	ENSP00000216223:P410S	ENSP00000216223:P410S	P	-	1	0	IL2RB	35854510	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.179000	0.16840	-0.036000	0.13669	-0.123000	0.14984	CCT		0.652	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			3	38	0	0	0	1	0	3	38				
REV3L	5980	broad.mit.edu	37	6	111694792	111694792	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111694792G>T	ENST00000358835.3	-	14	5220	c.4766C>A	c.(4765-4767)aCa>aAa	p.T1589K	REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000435970.1_Missense_Mutation_p.T1511K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1589					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTTGTTTTGTACTTCTGGG	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4531-4533)aCa>aAa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							170.0	179.0	176.0					6																	111694792		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694792G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4766C>A	6.37:g.111694792G>T	ENSP00000351697:p.Thr1589Lys		Somatic				REV3L_ENST00000358835.3_Missense_Mutation_p.T1589K|REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K	p.T1511K			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5348	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1589					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4532C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532508	0.27387	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01464	4.95;4.95;4.95;4.86	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.275213	0.35646	N	0.003075	T	0.01592	0.0051	L	0.59436	1.845	0.37459	D	0.915122	B	0.10296	0.003	B	0.10450	0.005	T	0.45512	-0.9256	10	0.72032	D	0.01	-2.1928	16.1208	0.81357	0.0:0.0:0.8658:0.1342	.	1589	O60673	DPOLZ_HUMAN	K	1589;1589;1589;1511	ENSP00000357792:T1589K;ENSP00000357795:T1589K;ENSP00000351697:T1589K;ENSP00000402003:T1511K	ENSP00000351697:T1589K	T	-	2	0	REV3L	111801485	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.999000	0.57031	2.873000	0.98535	0.563000	0.77884	ACA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	418	1	0	1.6384e-10	1	1.87354e-10	5	418				
ZSWIM4	65249	broad.mit.edu	37	19	13941432	13941432	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:13941432C>T	ENST00000254323.2	+	13	2727	c.2538C>T	c.(2536-2538)gaC>gaT	p.D846D	ZSWIM4_ENST00000440752.2_Silent_p.D680D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	846							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGTCAACGACGTGCTTTGGG	0.667																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2536-2538)gaC>gaT		zinc finger, SWIM-type containing 4							104.0	97.0	99.0					19																	13941432		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941432C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2538C>T	19.37:g.13941432C>T			Somatic				ZSWIM4_ENST00000440752.2_Silent_p.D680D	p.D846D	NM_023072.2	NP_075560.2	WXS	Illumina GAIIx	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2727	+			846						Silent	SNP	ENST00000254323.2	37	c.2538C>T	CCDS32924.1																																																																																				0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		7	314	0	0	0	1	0	7	314				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F	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_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|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		5	154	0	0	0	1	0	5	154				
C10orf12	26148	broad.mit.edu	37	10	98743472	98743472	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:98743472G>T	ENST00000286067.2	+	1	2432	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	775										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCTAGATGAGGACGATGTTG	0.473																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2323-2325)gaG>gaT		chromosome 10 open reading frame 12							67.0	66.0	66.0					10																	98743472		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743472G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2325G>T	10.37:g.98743472G>T	ENSP00000286067:p.Glu775Asp		Somatic					p.E775D	NM_015652.2	NP_056467.2	WXS	Illumina GAIIx	Phase_I	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2432	+		Colorectal(252;0.172)	775					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2325G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024355	0.19433	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08193	3.12	5.82	0.545	0.17190	.	1.103820	0.07050	N	0.831739	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46816	-0.9164	10	0.18276	T	0.48	-5.1834	1.5401	0.02554	0.1906:0.1128:0.3485:0.3481	.	775	Q8N655	CJ012_HUMAN	D	775;609	ENSP00000286067:E775D	ENSP00000286067:E775D	E	+	3	2	C10orf12	98733462	1.000000	0.71417	0.271000	0.24616	0.089000	0.18198	1.035000	0.30216	-0.144000	0.11314	-0.254000	0.11334	GAG		0.473	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	124	1	0	2.0095e-06	1	2.20598e-06	4	124				
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(664-666)cTa>cAa		coiled-coil domain containing 62							82.0	79.0	80.0					12																	123273471		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123273471T>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.665T>A	12.37:g.123273471T>A	ENSP00000253079:p.Leu222Gln		Somatic				CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	p.L222Q	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	1009	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		222					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.665T>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971625	0.53614	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.38722	1.12;1.12	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000094	T	0.62490	0.2432	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.64980	-0.6279	10	0.56958	D	0.05	-9.4701	12.3693	0.55246	0.0:0.0:0.0:1.0	.	222;222	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Q	222	ENSP00000253079:L222Q;ENSP00000376236:L222Q	ENSP00000253079:L222Q	L	+	2	0	CCDC62	121839424	0.927000	0.31430	0.012000	0.15200	0.685000	0.39939	4.218000	0.58554	2.179000	0.69175	0.533000	0.62120	CTA		0.358	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		4	111	0	0	0	1	0	4	111				
CRIPAK	285464	broad.mit.edu	37	4	1388456	1388456	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:1388456G>A	ENST00000324803.4	+	1	3117	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	53					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGTGGAGTGCCCGCCTGCT	0.642																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(157-159)Gcc>Acc		cysteine-rich PAK1 inhibitor							243.0	229.0	234.0					4																	1388456		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388456G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.157G>A	4.37:g.1388456G>A	ENSP00000323978:p.Ala53Thr		Somatic					p.A53T	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3117	+			53					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.157G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.360664	0.24598	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24350	1.86	1.11	0.185	0.15096	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.31383	0.321	B	0.23716	0.048	T	0.21314	-1.0249	9	0.56958	D	0.05	.	3.9067	0.09185	0.4726:0.0:0.5274:0.0	.	53	Q8N1N5	CRPAK_HUMAN	T	53;46	ENSP00000323978:A53T	ENSP00000323978:A53T	A	+	1	0	CRIPAK	1378456	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.939000	0.03933	0.054000	0.16065	-0.506000	0.04501	GCC		0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		25	90	0	0	0	1	0	25	90				
MLXIPL	51085	broad.mit.edu	37	7	73008695	73008695	+	Silent	SNP	G	G	A	rs185020196		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:73008695G>A	ENST00000313375.3	-	16	2396	c.2349C>T	c.(2347-2349)aaC>aaT	p.N783N	MLXIPL_ENST00000414749.2_Silent_p.N781N|MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000434326.1_Silent_p.N689N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000429400.2_Silent_p.N764N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18426	0.001		0.0	False		,,,				2504	0.0					ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2347-2349)aaC>aaT		MLX interacting protein-like							75.0	68.0	70.0					7																	73008695		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008695G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2349C>T	7.37:g.73008695G>A			Somatic				MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N	p.N783N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	WXS	Illumina GAIIx	Phase_I	Q9NP71	WBS14_HUMAN			16	2396	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	783					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.2349C>T	CCDS5553.1																																																																																				0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		6	127	0	0	0	1	0	6	127				
MR1	3140	broad.mit.edu	37	1	181021607	181021607	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:181021607G>C	ENST00000367580.5	+	4	846	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CTGTCATGTGGAGCACTGCGG	0.547																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(841-843)Gag>Cag		major histocompatibility complex, class I-related							61.0	65.0	63.0					1																	181021607		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021607G>C	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.841G>C	1.37:g.181021607G>C	ENSP00000356552:p.Glu281Gln		Somatic				MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron	p.E281Q	NM_001531.2	NP_001522.1	WXS	Illumina GAIIx	Phase_I	Q95460	HMR1_HUMAN			4	846	+			281			Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.841G>C	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761376	0.31228	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.03065	4.06;4.06	4.31	3.4	0.38934	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.111526	0.39544	N	0.001322	T	0.05410	0.0143	L	0.45051	1.395	0.80722	D	1	P;P	0.51240	0.93;0.943	P;P	0.51974	0.558;0.686	T	0.32107	-0.9919	10	0.02654	T	1	.	9.8978	0.41329	0.1001:0.0:0.8999:0.0	.	236;281	Q95460-2;Q95460	.;HMR1_HUMAN	Q	281;236	ENSP00000356552:E281Q;ENSP00000356551:E236Q	ENSP00000356551:E236Q	E	+	1	0	MR1	179288230	1.000000	0.71417	0.836000	0.33094	0.052000	0.14988	2.878000	0.48515	1.038000	0.40049	-0.136000	0.14681	GAG		0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		12	75	0	0	0	1	0	12	75				
YPEL1	29799	broad.mit.edu	37	22	22064992	22064992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22064992C>T	ENST00000339468.3	-	2	425	c.42G>A	c.(40-42)ctG>ctA	p.L14L	YPEL1_ENST00000403503.1_Silent_p.L14L	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	14						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GACAGTTCGGCAGATACGCTT	0.512																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(40-42)ctG>ctA		yippee-like 1 (Drosophila)							383.0	323.0	343.0					22																	22064992		2203	4300	6503	SO:0001819	synonymous_variant	29799					nucleus		g.chr22:22064992C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.42G>A	22.37:g.22064992C>T			Somatic				YPEL1_ENST00000403503.1_Silent_p.L14L	p.L14L	NM_013313.3	NP_037445.1	WXS	Illumina GAIIx	Phase_I	O60688	YPEL1_HUMAN			2	425	-	Colorectal(54;0.105)		14					Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	c.42G>A	CCDS13794.1																																																																																				0.512	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		7	795	0	0	0	1	0	7	795				
KDM8	79831	broad.mit.edu	37	16	27221579	27221579	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:27221579G>A	ENST00000286096.4	+	2	308	c.135G>A	c.(133-135)gtG>gtA	p.V45V	KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V|KDM8_ENST00000380948.2_Silent_p.V45V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	45					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										AGAGGAGCGTGGTGACATTGT	0.592																																						ENST00000286096.4																			0											c.(133-135)gtG>gtA		lysine (K)-specific demethylase 8							76.0	48.0	57.0					16																	27221579		2194	4293	6487	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221579G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.135G>A	16.37:g.27221579G>A			Somatic				KDM8_ENST00000380948.2_Silent_p.V45V|KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V	p.V45V	NM_024773.2	NP_079049.2	WXS	Illumina GAIIx	Phase_I	Q8N371	KDM8_HUMAN			2	308	+			45					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.135G>A	CCDS10627.1																																																																																				0.592	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		38	192	0	0	0	1	0	38	192				
KMT2D	8085	broad.mit.edu	37	12	49447312	49447312	+	Silent	SNP	G	G	A	rs368315432		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49447312G>A	ENST00000301067.7	-	6	785	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A262D(2)|p.A262A(2)|p.L260fs*8(1)									CACGTTTGCGGGCAGTCAGAG	0.577																																						ENST00000301067.7																			5	Substitution - Missense(2)|Substitution - coding silent(2)|Deletion - Frameshift(1)	p.A262D(2)|p.A262A(2)|p.L260fs*8(1)	kidney(4)|haematopoietic_and_lymphoid_tissue(1)								c.(784-786)gcC>gcT		lysine (K)-specific methyltransferase 2D		G		0,4116		0,0,2058	32.0	33.0	33.0		786	1.7	1.0	12		33	1,8393		0,1,4196	no	coding-synonymous	MLL2	NM_003482.3		0,1,6254	AA,AG,GG		0.0119,0.0,0.0080		262/5538	49447312	1,12509	2058	4197	6255	SO:0001819	synonymous_variant	8085							g.chr12:49447312G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.786C>T	12.37:g.49447312G>A			Somatic					p.A262A	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					6	785	-								O14687	Silent	SNP	ENST00000301067.7	37	c.786C>T	CCDS44873.1																																																																																				0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	54	0	0	0	1	0	11	54				
ZSWIM5	57643	broad.mit.edu	37	1	45484587	45484587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:45484587G>A	ENST00000359600.5	-	14	3302	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1033						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTATCCTGGTTGTAGGCC	0.577											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3097-3099)Cag>Tag		zinc finger, SWIM-type containing 5							51.0	49.0	50.0					1																	45484587		2045	4202	6247	SO:0001587	stop_gained	57643						zinc ion binding	g.chr1:45484587G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3097C>T	1.37:g.45484587G>A	ENSP00000352614:p.Gln1033*		Somatic	OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.Q1033*	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			14	3302	-	Acute lymphoblastic leukemia(166;0.155)		1033					Q5SXQ9	Nonsense_Mutation	SNP	ENST00000359600.5	37	c.3097C>T	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708284	0.98444	.	.	ENSG00000162415	ENST00000359600	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.1367	18.6023	0.91253	0.0:0.0:1.0:0.0	.	.	.	.	X	1033	.	ENSP00000352614:Q1033X	Q	-	1	0	ZSWIM5	45257174	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.729000	0.98795	2.558000	0.86282	0.555000	0.69702	CAG		0.577	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		6	313	0	0	0	1	0	6	313				
KANSL3	55683	broad.mit.edu	37	2	97297120	97297120	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:97297120C>T	ENST00000431828.1	-	3	391	c.315G>A	c.(313-315)cgG>cgA	p.R105R	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000599854.1_Silent_p.R18R|KANSL3_ENST00000435669.1_Silent_p.R18R			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	105					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGATGACATGCCGTTCACACT	0.527																																						ENST00000599854.1																			0											c.(52-54)cgG>cgA		KAT8 regulatory NSL complex subunit 3							97.0	97.0	97.0					2																	97297120		2079	4207	6286	SO:0001819	synonymous_variant	55683							g.chr2:97297120C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.315G>A	2.37:g.97297120C>T			Somatic				KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.R105R	p.R18R	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			3	521	-			105					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	c.54G>A	CCDS46361.1																																																																																				0.527	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		3	69	0	0	0	1	0	3	69				
KMT2D	8085	broad.mit.edu	37	12	49447313	49447313	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49447313G>T	ENST00000301067.7	-	6	784	c.785C>A	c.(784-786)gCc>gAc	p.A262D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A262D(4)|p.L260fs*8(1)									ACGTTTGCGGGCAGTCAGAGC	0.577																																						ENST00000301067.7																			5	Substitution - Missense(4)|Deletion - Frameshift(1)	p.A262D(4)|p.L260fs*8(1)	kidney(4)|haematopoietic_and_lymphoid_tissue(1)								c.(784-786)gCc>gAc		lysine (K)-specific methyltransferase 2D							32.0	33.0	33.0					12																	49447313		2060	4201	6261	SO:0001583	missense	8085							g.chr12:49447313G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.785C>A	12.37:g.49447313G>T	ENSP00000301067:p.Ala262Asp		Somatic					p.A262D	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					6	784	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.785C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590579	0.46214	.	.	ENSG00000167548	ENST00000301067	D	0.87491	-2.26	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35013	N	0.003511	D	0.89908	0.6851	L	0.52011	1.625	0.39105	D	0.961361	D	0.60160	0.987	P	0.56278	0.795	D	0.91888	0.5521	10	0.87932	D	0	.	17.198	0.86899	0.0:0.0:1.0:0.0	.	262	O14686	MLL2_HUMAN	D	262	ENSP00000301067:A262D	ENSP00000301067:A262D	A	-	2	0	MLL2	47733580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.723000	0.98772	2.340000	0.79590	0.561000	0.74099	GCC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	54	1	0	6.42651e-13	1	7.52298e-13	11	54				
FCAR	2204	broad.mit.edu	37	19	55401088	55401088	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:55401088C>A	ENST00000355524.3	+	5	733	c.723C>A	c.(721-723)ctC>ctA	p.L241L	FCAR_ENST00000353758.4_Silent_p.L132L|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000391723.3_Missense_Mutation_p.L205I	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	241					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCGTGGCTCTCTTGGCCATAC	0.537																																						ENST00000391723.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(613-615)Ctt>Att		Fc fragment of IgA, receptor for							264.0	256.0	259.0					19																	55401088		2203	4300	6503	SO:0001819	synonymous_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401088C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.723C>A	19.37:g.55401088C>A			Somatic				FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L|FCAR_ENST00000353758.4_Silent_p.L132L	p.L205I	NM_133274.2	NP_579808.1	WXS	Illumina GAIIx	Phase_I	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	613	+			0					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.613C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437441	0.25900	.	.	ENSG00000186431	ENST00000391723	T	0.00587	6.38	3.9	1.51	0.23008	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.19575	N	0.999969	D	0.58268	0.982	P	0.51193	0.662	T	0.30995	-0.9959	8	0.02654	T	1	.	6.1181	0.20137	0.2175:0.5714:0.2111:0.0	.	205	Q92588	.	I	205	ENSP00000375603:L205I	ENSP00000375603:L205I	L	+	1	0	FCAR	60092900	0.090000	0.21635	0.084000	0.20598	0.594000	0.36715	0.517000	0.22832	0.960000	0.38005	0.557000	0.71058	CTT		0.537	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		6	322	1	0	8.12818e-05	1	8.65371e-05	6	322				
DRP2	1821	broad.mit.edu	37	X	100506047	100506047	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:100506047A>G	ENST00000395209.3	+	16	2367	c.1840A>G	c.(1840-1842)Agg>Ggg	p.R614G	DRP2_ENST00000402866.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G|DRP2_ENST00000538510.1_Missense_Mutation_p.R614G	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	614					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTCTATCTGTAGGCAGTGCCC	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1840-1842)Agg>Ggg		dystrophin related protein 2							133.0	111.0	119.0					X																	100506047		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100506047A>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1840A>G	X.37:g.100506047A>G	ENSP00000378635:p.Arg614Gly		Somatic				DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G	p.R614G	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			16	2367	+			614					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1840A>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079449	0.76528	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	6.06	4.85	0.62838	Zinc finger, ZZ-type (4);	0.044828	0.85682	D	0.000000	D	0.82273	0.5001	N	0.12569	0.235	0.42444	D	0.992722	P	0.43231	0.801	B	0.39971	0.315	D	0.85678	0.1299	10	0.87932	D	0	-17.5148	12.4548	0.55697	0.7221:0.2779:0.0:0.0	.	614	Q13474	DRP2_HUMAN	G	614;614;536;614	ENSP00000385038:R614G;ENSP00000378635:R614G;ENSP00000444752:R536G;ENSP00000441051:R614G	ENSP00000378635:R614G	R	+	1	2	DRP2	100392703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.034000	0.64152	2.044000	0.60594	0.486000	0.48141	AGG		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		4	332	0	0	0	1	0	4	332				
SNHG14	104472715	broad.mit.edu	37	15	25331696	25331696	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:25331696A>G	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTTCCATATATACATTCCTT	0.463																																						ENST00000546682.1																			0																				255.0	231.0	238.0					15																	25331696		876	1991	2867			104472715							g.chr15:25331696A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25331696A>G			Somatic				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA		NR_003361.1		WXS	Illumina GAIIx	Phase_I					0	453	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.463	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			6	392	0	0	0	1	0	6	392				
MICU2	221154	broad.mit.edu	37	13	22067484	22067484	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:22067484T>C	ENST00000382374.4	-	12	1274	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	403					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.Q403Q(1)									TACTCTGATGTTGTGGTACCT	0.333																																						ENST00000382374.4																			1	Substitution - coding silent(1)	p.Q403Q(1)	kidney(1)								c.(1207-1209)caA>caG		mitochondrial calcium uptake 2							153.0	144.0	147.0					13																	22067484		2202	4297	6499	SO:0001819	synonymous_variant	221154							g.chr13:22067484T>C	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1209A>G	13.37:g.22067484T>C			Somatic				MICU2_ENST00000479790.1_5'UTR	p.Q403Q	NM_152726.2	NP_689939.1	WXS	Illumina GAIIx	Phase_I					12	1274	-								Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.1209A>G	CCDS9297.1																																																																																				0.333	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		21	85	0	0	0	1	0	21	85				
JUP	3728	broad.mit.edu	37	17	39919273	39919273	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:39919273T>G	ENST00000393931.3	-	8	1577	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	487					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.K487Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTTCACGATGGCT	0.607																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			1	Substitution - Missense(1)	p.K487Q(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1459-1461)Aag>Cag		junction plakoglobin							67.0	60.0	62.0					17																	39919273		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919273T>G	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1459A>C	17.37:g.39919273T>G	ENSP00000377508:p.Lys487Gln		Somatic				JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000393930.1_Missense_Mutation_p.K487Q	p.K487Q	NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1577	-		Breast(137;0.000162)	487					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1459A>C	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668577	0.67814	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01464	4.86;4.86;4.86	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.040858	0.85682	D	0.000000	T	0.07954	0.0199	M	0.74647	2.275	0.80722	D	1	P	0.52170	0.951	P	0.56960	0.81	T	0.00945	-1.1505	10	0.87932	D	0	-46.2343	14.3357	0.66589	0.0:0.0:0.0:1.0	.	487	P14923	PLAK_HUMAN	Q	487	ENSP00000377507:K487Q;ENSP00000311113:K487Q;ENSP00000377508:K487Q	ENSP00000311113:K487Q	K	-	1	0	JUP	37172799	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.714000	0.84703	2.165000	0.68154	0.459000	0.35465	AAG		0.607	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			19	63	0	0	0	1	0	19	63				
TRPM3	80036	broad.mit.edu	37	9	73225581	73225581	+	Missense_Mutation	SNP	C	C	T	rs182875508		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:73225581C>T	ENST00000377111.2	-	18	2818	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377110.3_Missense_Mutation_p.G859S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTTTTCTGCCGAGGGGGATT	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20177	0.0		0.0	False		,,,				2504	0.0					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2575-2577)Ggc>Agc		transient receptor potential cation channel, subfamily M, member 3		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	211.0	189.0	197.0		2575,2116,2152,2086,2122,2191,2161	6.2	1.0	9		197	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	859/1708,706/1555,718/1567,696/1545,708/1557,731/1580,721/1570	73225581	1,13005	2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73225581C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2575G>A	9.37:g.73225581C>T	ENSP00000366315:p.Gly859Ser		Somatic				TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S	p.G859S	NM_001007471.2	NP_001007472.2	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			18	2818	-			884					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2575G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.47|12.47	1.948526|1.948526	0.34377|0.34377	2.27E-4|2.27E-4	0.0|0.0	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	B;B;D;P;B;D;P;P|.	0.76494|.	0.407;0.108;0.999;0.48;0.285;0.964;0.74;0.882|.	B;B;D;B;B;P;B;B|.	0.68621|.	0.165;0.024;0.959;0.079;0.047;0.552;0.269;0.206|.	T|T	0.65014|0.65014	-0.6271|-0.6271	10|5	0.16896|.	T|.	0.51|.	-26.6526|-26.6526	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	859;859;849;863;721;718;831;706|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	S|Q	859;859;731;721;718;863;718;706;731;721;886|707	ENSP00000366315:G859S;ENSP00000366314:G859S;ENSP00000366310:G731S;ENSP00000354066:G721S;ENSP00000366309:G718S;ENSP00000350140:G863S;ENSP00000386127:G718S;ENSP00000379581:G706S;ENSP00000379587:G731S;ENSP00000350791:G721S;ENSP00000389542:G886S|.	ENSP00000350140:G863S|.	G|R	-|-	1|2	0|0	TRPM3|TRPM3	72415401|72415401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.089000|6.089000	0.71384|0.71384	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		6	623	0	0	0	1	0	6	623				
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8560-8562)tTa>tAa		dynein, axonemal, heavy chain 7							251.0	237.0	241.0					2																	196720569		1836	4096	5932	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720569A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8561T>A	2.37:g.196720569A>T	ENSP00000311273:p.Leu2854*		Somatic					p.L2854*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			45	8661	-			2854			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.8561T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	48	14.008433	0.99775	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.31	2.89	0.33648	.	0.640279	0.14533	N	0.313770	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.1499	0.06484	0.3715:0.0:0.1842:0.4443	.	.	.	.	X	2854	.	ENSP00000311273:L2854X	L	-	2	0	DNAH7	196428814	0.005000	0.15991	0.003000	0.11579	0.312000	0.27988	0.845000	0.27668	0.440000	0.26502	0.455000	0.32223	TTA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	476	0	0	0	1	0	9	476				
ENO1	2023	broad.mit.edu	37	1	8928107	8928107	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:8928107C>T	ENST00000234590.4	-	5	369	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	84					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCTGTGACGTTCAGTTTC	0.478																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(250-252)Gtc>Atc		enolase 1, (alpha)							370.0	358.0	362.0					1																	8928107		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8928107C>T	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.250G>A	1.37:g.8928107C>T	ENSP00000234590:p.Val84Ile		Somatic					p.V84I	NM_001428.3	NP_001419.1	WXS	Illumina GAIIx	Phase_I	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	5	369	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	84					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.250G>A	CCDS97.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551093	0.45383	.	.	ENSG00000074800	ENST00000234590	T	0.32023	1.47	5.93	5.93	0.95920	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.88450	2.955	0.52099	D	0.999948	B;B	0.20988	0.004;0.05	B;B	0.22601	0.01;0.04	T	0.49679	-0.8914	10	0.87932	D	0	-32.6388	18.9177	0.92512	0.0:1.0:0.0:0.0	.	51;84	A4UCS8;P06733	.;ENOA_HUMAN	I	84	ENSP00000234590:V84I	ENSP00000234590:V84I	V	-	1	0	ENO1	8850694	1.000000	0.71417	0.263000	0.24496	0.020000	0.10135	7.792000	0.85828	2.826000	0.97356	0.655000	0.94253	GTC		0.478	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		18	3348	0	0	0	1	0	18	3348				
SLCO5A1	81796	broad.mit.edu	37	8	70591810	70591810	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:70591810C>T	ENST00000260126.4	-	8	2533	c.1827G>A	c.(1825-1827)gtG>gtA	p.V609V	SLCO5A1_ENST00000530307.1_Silent_p.V554V|SLCO5A1_ENST00000524945.1_Silent_p.V609V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	609						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGGAGTGATCACTTGGCGAC	0.458																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1825-1827)gtG>gtA		solute carrier organic anion transporter family, member 5A1							149.0	139.0	142.0					8																	70591810		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70591810C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1827G>A	8.37:g.70591810C>T			Somatic				SLCO5A1_ENST00000530307.1_Silent_p.V554V|SLCO5A1_ENST00000524945.1_Silent_p.V609V	p.V609V	NM_030958.2	NP_112220.2	WXS	Illumina GAIIx	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		8	2533	-	Breast(64;0.0654)		609					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1827G>A	CCDS6205.1																																																																																				0.458	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		13	466	0	0	0	1	0	13	466				
GYS2	2998	broad.mit.edu	37	12	21733438	21733438	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:21733438C>T	ENST00000261195.2	-	2	395	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	47					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCTGAATCACAGTATAGA	0.353																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(139-141)gtG>gtA		glycogen synthase 2 (liver)							160.0	154.0	156.0					12																	21733438		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733438C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.141G>A	12.37:g.21733438C>T			Somatic					p.V47V	NM_021957.3	NP_068776.2	WXS	Illumina GAIIx	Phase_I	P54840	GYS2_HUMAN			2	395	-			47					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.141G>A	CCDS8690.1																																																																																				0.353	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		10	148	0	0	0	1	0	10	148				
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(559-561)Gca>Aca		FAST kinase domains 2							120.0	119.0	119.0					2																	207631976		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631976G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.559G>A	2.37:g.207631976G>A	ENSP00000236980:p.Ala187Thr		Somatic				FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	p.A187T	NM_014929.3	NP_055744.2	WXS	Illumina GAIIx	Phase_I	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	907	+			187					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.559G>A	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470894	0.63625	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15372	2.43;2.43;2.43	5.31	3.49	0.39957	.	0.429898	0.24048	N	0.042038	T	0.28764	0.0713	L	0.54323	1.7	0.09310	N	1	D;B	0.76494	0.999;0.349	D;B	0.65140	0.932;0.056	T	0.03818	-1.1001	10	0.34782	T	0.22	-3.9259	7.217	0.25965	0.3732:0.0:0.6268:0.0	.	187;187	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	T	187	ENSP00000236980:A187T;ENSP00000385990:A187T;ENSP00000384929:A187T	ENSP00000236980:A187T	A	+	1	0	FASTKD2	207340221	0.008000	0.16893	1.000000	0.80357	0.996000	0.88848	0.848000	0.27710	1.230000	0.43646	0.561000	0.74099	GCA		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		4	418	0	0	0	1	0	4	418				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000418425.2_Splice_Site	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T			Somatic				LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron		NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	10	1074	0	0	0	1	0	10	1074				
PCDHGA4	56111	broad.mit.edu	37	5	140736257	140736257	+	Missense_Mutation	SNP	A	A	G	rs572628433		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140736257A>G	ENST00000571252.1	+	1	1490	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCTTCCAGGGTGCACCT	0.512																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1489-1491)cAg>cGg									130.0	137.0	135.0					5																	140736257		2084	4242	6326	SO:0001583	missense	56111							g.chr5:140736257A>G	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1490A>G	5.37:g.140736257A>G	ENSP00000458570:p.Gln497Arg		Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.Q497R	NM_018917.2	NP_061740.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1490	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1490A>G	CCDS58979.1																																																																																				0.512	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		5	301	0	0	0	1	0	5	301				
PDE4DIP	9659	broad.mit.edu	37	1	145015865	145015865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145015865C>A	ENST00000530740.1	-	3	474	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	9					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTACCTTCTCAAAGTCTCGA	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(436-438)Gag>Tag		phosphodiesterase 4D interacting protein							522.0	616.0	584.0					1																	145015865		2203	4300	6503	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015865C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.436G>T	1.37:g.145015865C>A	ENSP00000435654:p.Glu146*		Somatic				PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*	p.E146*			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	474	-			9					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000530740.1	37	c.436G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.112964	0.97296	.	.	ENSG00000178104	ENST00000313382;ENST00000530740;ENST00000369359;ENST00000530078;ENST00000369348;ENST00000531369;ENST00000493130;ENST00000478649	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.2417	0.65961	0.0:1.0:0.0:0.0	.	.	.	.	X	75;146;146;75;146;76;75;75	.	ENSP00000327209:E75X	E	-	1	0	PDE4DIP	143727222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.560000	0.53763	2.727000	0.93392	0.655000	0.94253	GAG		0.443	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		15	1884	1	0	7.48243e-07	1	8.28771e-07	15	1884				
HOXD13	3239	broad.mit.edu	37	2	176959247	176959247	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:176959247G>T	ENST00000392539.3	+	2	821	c.821G>T	c.(820-822)cGa>cTa	p.R274L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	274					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGCGTCTACCGAAGAGGGAGG	0.468			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(820-822)cGa>cTa		homeobox D13							109.0	99.0	102.0					2																	176959247		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959247G>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.821G>T	2.37:g.176959247G>T	ENSP00000376322:p.Arg274Leu		Somatic					p.R274L	NM_000523.3	NP_000514.2	WXS	Illumina GAIIx	Phase_I	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	821	+			274						Missense_Mutation	SNP	ENST00000392539.3	37	c.821G>T	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090973	0.76756	.	.	ENSG00000128714	ENST00000392539	D	0.95756	-3.8	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.53938	D	0.000051	D	0.97898	0.9309	M	0.85373	2.75	0.58432	D	0.999994	D	0.76494	0.999	D	0.76575	0.988	D	0.98455	1.0593	10	0.87932	D	0	.	18.8301	0.92135	0.0:0.0:1.0:0.0	.	274	P35453	HXD13_HUMAN	L	274	ENSP00000376322:R274L	ENSP00000376322:R274L	R	+	2	0	HOXD13	176667493	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	7.356000	0.79445	2.767000	0.95098	0.655000	0.94253	CGA		0.468	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			7	78	1	0	0.0293803	1	0.0294998	7	78				
SLC6A5	9152	broad.mit.edu	37	11	20658745	20658745	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:20658745T>C	ENST00000525748.1	+	12	2038	c.1765T>C	c.(1765-1767)Tcc>Ccc	p.S589P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	589					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATAGTGACCTCCATCTCAGA	0.483																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1765-1767)Tcc>Ccc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						213.0	184.0	194.0					11																	20658745		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658745T>C	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1765T>C	11.37:g.20658745T>C	ENSP00000434364:p.Ser589Pro		Somatic				SLC6A5_ENST00000528440.1_3'UTR	p.S589P	NM_004211.3	NP_004202.2	WXS	Illumina GAIIx	Phase_I	Q9Y345	SC6A5_HUMAN			12	2038	+			589					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1765T>C	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258814	0.80246	.	.	ENSG00000165970	ENST00000525748	T	0.74315	-0.83	5.67	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.27053	0.805	0.58432	D	0.999999	D	0.64830	0.994	D	0.63597	0.916	T	0.78178	-0.2305	10	0.72032	D	0.01	.	12.8084	0.57626	0.0:0.0:0.1366:0.8634	.	589	Q9Y345	SC6A5_HUMAN	P	589	ENSP00000434364:S589P	ENSP00000434364:S589P	S	+	1	0	SLC6A5	20615321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.998000	0.70653	0.937000	0.37394	0.533000	0.62120	TCC		0.483	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		4	460	0	0	0	1	0	4	460				
THADA	63892	broad.mit.edu	37	2	43799003	43799003	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:43799003T>A	ENST00000405006.4	-	13	2260		c.e13-2		THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000403856.1_Splice_Site	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated											breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.e14-2		thyroid adenoma associated							97.0	97.0	97.0					2																	43799003		1830	4086	5916	SO:0001630	splice_region_variant	63892						binding	g.chr2:43799003T>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1909-2A>T	2.37:g.43799003T>A			Somatic				THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000330266.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			14	2056	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)						A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37		CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.918555	0.52546	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2924	0.73875	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THADA	43652507	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.820000	0.69250	2.073000	0.62155	0.482000	0.46254	.		0.318	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Intron	4	121	0	0	0	1	0	4	121				
ZAN	7455	broad.mit.edu	37	7	100361427	100361427	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:100361427A>G	ENST00000348028.3	+	0	4151				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCTCTTGCAGGTGTCAGAA	0.587																																						ENST00000542585.1																			2	Unknown(2)	p.?(2)	kidney(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							113.0	109.0	111.0					7																	100361427		1971	4174	6145			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361427A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361427A>G			Somatic				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4134	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	19.03	3.747498	0.69533	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4288	0.44395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZAN	100199363	0.995000	0.38212	0.895000	0.35142	0.526000	0.34562	4.430000	0.59907	1.893000	0.54813	0.454000	0.30748	.		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		24	100	0	0	0	1	0	24	100				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_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_ENST00000515799.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_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	4	49	0	0	0	1	0	4	49				
ACACA	31	broad.mit.edu	37	17	35506818	35506818	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:35506818T>C	ENST00000394406.2	-	45	5728	c.5538A>G	c.(5536-5538)ttA>ttG	p.L1846L	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Silent_p.L1768L|ACACA_ENST00000360679.3_Silent_p.L1788L|ACACA_ENST00000353139.5_Silent_p.L1883L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1846	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTAGAATTAAGTGAGAAT	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5647-5649)ttA>ttG		acetyl-CoA carboxylase alpha	Biotin(DB00121)						102.0	103.0	103.0					17																	35506818		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35506818T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5538A>G	17.37:g.35506818T>C			Somatic				ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L|ACACA_ENST00000335166.5_Silent_p.L1768L	p.L1883L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			45	6130	-		Breast(25;0.00157)|Ovarian(249;0.15)	1846			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.5649A>G	CCDS11317.1																																																																																				0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	287	0	0	0	1	0	6	287				
SEC16A	9919	broad.mit.edu	37	9	139371797	139371797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:139371797C>T	ENST00000313050.7	-	1	344	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAAGCAAACCGGGGTGCTGA	0.587																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(271-273)Ggt>Agt		SEC16 homolog A (S. cerevisiae)							71.0	76.0	74.0					9																	139371797		1979	4143	6122	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371797C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.271G>A	9.37:g.139371797C>T	ENSP00000325827:p.Gly91Ser		Somatic					p.G91S	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	344	-		Myeloproliferative disorder(178;0.0511)	2055					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.271G>A	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597270	0.28445	.	.	ENSG00000148396	ENST00000313050	T	0.21191	2.02	5.69	4.79	0.61399	.	.	.	.	.	T	0.18130	0.0435	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.49361	0.608	T	0.00872	-1.1532	8	.	.	.	.	11.0745	0.48023	0.0:0.9146:0.0:0.0854	.	91	F1T0I1	.	S	91	ENSP00000325827:G91S	.	G	-	1	0	SEC16A	138491618	0.000000	0.05858	0.094000	0.20943	0.006000	0.05464	0.371000	0.20450	2.692000	0.91855	0.655000	0.94253	GGT		0.587	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		4	358	0	0	0	1	0	4	358				
STPG1	90529	broad.mit.edu	37	1	24700199	24700199	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:24700199A>G	ENST00000374409.1	-	6	818	c.564T>C	c.(562-564)ccT>ccC	p.P188P	STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000440416.1_Silent_p.P141P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Silent_p.P141P	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	188					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TACCTGGGGGAGGTCCTTTAT	0.493																																						ENST00000374409.1																			0											c.(562-564)ccT>ccC		sperm-tail PG-rich repeat containing 1							212.0	222.0	219.0					1																	24700199		2203	4300	6503	SO:0001819	synonymous_variant	90529							g.chr1:24700199A>G	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.564T>C	1.37:g.24700199A>G			Somatic				STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.P141P	p.P188P	NM_001199012.1	NP_001185941.1	WXS	Illumina GAIIx	Phase_I					6	818	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Silent	SNP	ENST00000374409.1	37	c.564T>C	CCDS55581.1																																																																																				0.493	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		7	797	0	0	0	1	0	7	797				
PCDHGB2	56103	broad.mit.edu	37	5	140740059	140740059	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140740059A>G	ENST00000522605.1	+	1	357	c.357A>G	c.(355-357)atA>atG	p.I119M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTACATAGCAGTAATTG	0.383																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(355-357)atA>atG									55.0	56.0	56.0					5																	140740059		1826	4090	5916	SO:0001583	missense	56103							g.chr5:140740059A>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.357A>G	5.37:g.140740059A>G	ENSP00000429018:p.Ile119Met		Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.I119M	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	357	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.357A>G	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827236	0.32329	.	.	ENSG00000253910	ENST00000522605	T	0.55234	0.53	5.12	2.67	0.31697	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.58323	0.2114	M	0.68952	2.095	0.09310	N	1	P;P	0.49253	0.921;0.913	P;P	0.56823	0.807;0.568	T	0.53927	-0.8369	9	0.87932	D	0	.	0.4876	0.00559	0.456:0.1532:0.1636:0.2272	.	119;119	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	119	ENSP00000429018:I119M	ENSP00000429018:I119M	I	+	3	3	PCDHGB2	140720243	0.000000	0.05858	0.836000	0.33094	0.716000	0.41182	-3.310000	0.00517	0.850000	0.35239	0.460000	0.39030	ATA		0.383	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		5	776	0	0	0	1	0	5	776				
PABPC3	5042	broad.mit.edu	37	13	25671044	25671044	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:25671044A>G	ENST00000281589.3	+	1	745	c.708A>G	c.(706-708)gtA>gtG	p.V236V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	236	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGATTTGTAAGCTTTGAAA	0.418																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(706-708)gtA>gtG		poly(A) binding protein, cytoplasmic 3							92.0	85.0	87.0					13																	25671044		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671044A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.708A>G	13.37:g.25671044A>G			Somatic					p.V236V	NM_030979.2	NP_112241.2	WXS	Illumina GAIIx	Phase_I	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	745	+		Lung SC(185;0.0225)|Breast(139;0.0602)	236			RRM 3.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.708A>G	CCDS9311.1																																																																																				0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		8	1400	0	0	0	1	0	8	1400				
ADAMTS18	170692	broad.mit.edu	37	16	77331192	77331192	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:77331192G>A	ENST00000282849.5	-	18	3213	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	932	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTACTAAGCCGGGCAGGAGAA	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2794-2796)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							174.0	168.0	170.0					16																	77331192		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331192G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2795C>T	16.37:g.77331192G>A	ENSP00000282849:p.Pro932Leu		Somatic					p.P932L	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			18	3213	-			932			TSP type-1 2.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2795C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203855	0.95033	.	.	ENSG00000140873	ENST00000282849	T	0.59502	0.26	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	M	0.81942	2.565	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55112	0.769;0.714	T	0.76342	-0.2994	10	0.66056	D	0.02	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	932;932	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	932	ENSP00000282849:P932L	ENSP00000282849:P932L	P	-	2	0	ADAMTS18	75888693	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.081000	0.76844	2.882000	0.98803	0.655000	0.94253	CCG		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	436	0	0	0	1	0	4	436				
PCDHB11	56125	broad.mit.edu	37	5	140580124	140580124	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140580124G>A	ENST00000354757.3	+	1	777	c.777G>A	c.(775-777)tcG>tcA	p.S259S	PCDHB11_ENST00000536699.1_De_novo_Start_InFrame	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTTGGCTCGCTGATTTTGA	0.438																																						ENST00000536699.1																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63															189.0	192.0	191.0					5																	140580124		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580124G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.777G>A	5.37:g.140580124G>A			Somatic				PCDHB11_ENST00000354757.3_Silent_p.S259S				WXS	Illumina GAIIx	Phase_I	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	245	+								B4DSF7|Q2M223	Translation_Start_Site	SNP	ENST00000354757.3	37		CCDS4253.1																																																																																				0.438	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	352	0	0	0	1	0	5	352				
RNF19B	127544	broad.mit.edu	37	1	33402681	33402681	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:33402681C>G	ENST00000373456.7	-	9	1924	c.1925G>C	c.(1924-1926)tGt>tCt	p.C642S	RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	642					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C451S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCTGTTCACAGCTTTGGTG	0.552																																						ENST00000373456.7																			1	Substitution - Missense(1)	p.C451S(1)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1924-1926)tGt>tCt		ring finger protein 19B							138.0	124.0	128.0					1																	33402681		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402681C>G	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1925G>C	1.37:g.33402681C>G	ENSP00000362555:p.Cys642Ser		Somatic				RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S	p.C642S	NM_153341.2	NP_699172.2	WXS	Illumina GAIIx	Phase_I	Q6ZMZ0	RN19B_HUMAN			9	1924	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	642					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1925G>C	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355090	0.41700	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.31769	1.48;1.49	4.91	4.91	0.64330	.	0.286501	0.35495	N	0.003179	T	0.37544	0.1007	L	0.38175	1.15	0.44117	D	0.996892	D;D	0.56521	0.976;0.958	P;P	0.53360	0.724;0.534	T	0.03784	-1.1004	10	0.26408	T	0.33	.	18.1253	0.89584	0.0:1.0:0.0:0.0	.	641;642	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	S	642;641	ENSP00000362555:C642S;ENSP00000235150:C641S	ENSP00000235150:C641S	C	-	2	0	RNF19B	33175268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.898000	0.48672	2.443000	0.82685	0.537000	0.68136	TGT		0.552	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		6	331	0	0	0	1	0	6	331				
C1orf43	25912	broad.mit.edu	37	1	154184845	154184845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154184845G>A	ENST00000368521.5	-	6	715	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	173						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCATTCTGGCCAAAGACC	0.522																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(517-519)Cag>Tag		chromosome 1 open reading frame 43							134.0	128.0	130.0					1																	154184845		2203	4300	6503	SO:0001587	stop_gained	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154184845G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.517C>T	1.37:g.154184845G>A	ENSP00000357507:p.Gln173*		Somatic				C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*	p.Q173*	NM_001098616.1	NP_001092086.1	WXS	Illumina GAIIx	Phase_I	Q9BWL3	CA043_HUMAN			6	715	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		173					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Nonsense_Mutation	SNP	ENST00000368521.5	37	c.517C>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118491	0.94385	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	.	0.160092	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-21.7373	11.6861	0.51487	0.0:0.0:0.7292:0.2708	.	.	.	.	X	139;173;121;155;173;139	.	ENSP00000271925:Q139X	Q	-	1	0	C1orf43	152451469	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.161000	0.50747	2.814000	0.96858	0.585000	0.79938	CAG		0.522	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		6	1083	0	0	0	1	0	6	1083				
GNB5	10681	broad.mit.edu	37	15	52427899	52427899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:52427899G>T	ENST00000261837.7	-	8	747	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000560613.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	228					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGCAGCAGCTGCCCGCTCTCC	0.597																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(682-684)Cag>Aag		guanine nucleotide binding protein (G protein), beta 5							79.0	76.0	77.0					15																	52427899		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52427899G>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.682C>A	15.37:g.52427899G>T	ENSP00000261837:p.Gln228Lys		Somatic				GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA	p.Q228K	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	O14775	GBB5_HUMAN		all cancers(107;0.0163)	8	747	-			228					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.682C>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393435	0.83011	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.57595	0.39	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071841	0.64402	D	0.000015	T	0.49966	0.1588	N	0.10945	0.07	0.80722	D	1	B;P	0.51351	0.016;0.944	B;P	0.53549	0.026;0.729	T	0.58685	-0.7593	10	0.59425	D	0.04	-15.8994	19.1927	0.93674	0.0:0.0:1.0:0.0	.	228;116	O14775;O14775-3	GBB5_HUMAN;.	K	228;186;26;116	ENSP00000261837:Q228K	ENSP00000261837:Q228K	Q	-	1	0	GNB5	50215191	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.290000	0.96065	2.516000	0.84829	0.650000	0.86243	CAG		0.597	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			8	209	1	0	1.76689e-08	1	2.00194e-08	8	209				
KRT85	3891	broad.mit.edu	37	12	52755264	52755264	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:52755264G>T	ENST00000257901.3	-	8	1392	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	KRT85_ENST00000544265.1_Silent_p.G227G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	439	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTCACAGAGCCCACACCTT	0.463																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1315-1317)ggC>ggA		keratin 85							164.0	151.0	155.0					12																	52755264		2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52755264G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1317C>A	12.37:g.52755264G>T			Somatic				KRT85_ENST00000544265.1_Silent_p.G227G	p.G439G	NM_002283.3	NP_002274.1	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	8	1392	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		439			Tail.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.1317C>A	CCDS8824.1																																																																																				0.463	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		130	822	1	0	1.67449e-95	1	2.01756e-95	130	822				
PC	5091	broad.mit.edu	37	11	66617533	66617533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66617533C>A	ENST00000393958.2	-	19	2866	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_Nonsense_Mutation_p.G45*|PC_ENST00000393960.1_Nonsense_Mutation_p.G925*	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	925					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGCTCAATCCATTCTGCACC	0.637																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2773-2775)Gga>Tga		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						83.0	79.0	80.0					11																	66617533		2200	4295	6495	SO:0001587	stop_gained	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617533C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2773G>T	11.37:g.66617533C>A	ENSP00000377530:p.Gly925*		Somatic				PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925*|PC_ENST00000529047.1_Nonsense_Mutation_p.G45*	p.G925*	NM_001040716.1	NP_001035806.1	WXS	Illumina GAIIx	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	20	3054	-		Melanoma(852;0.0525)	925					B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	37	c.2773G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	40	8.191907	0.98699	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	.	.	.	5.19	5.19	0.71726	.	0.355710	0.31834	N	0.006990	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-40.5902	16.2579	0.82526	0.0:1.0:0.0:0.0	.	.	.	.	X	45;925;925;925	.	ENSP00000377527:G925X	G	-	1	0	PC	66374109	0.985000	0.35326	0.964000	0.40570	0.567000	0.35839	2.050000	0.41297	2.705000	0.92388	0.462000	0.41574	GGA		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		3	61	1	0	6.4e-05	1	6.84329e-05	3	61				
VEZT	55591	broad.mit.edu	37	12	95694432	95694432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:95694432G>T	ENST00000436874.1	+	12	2428	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	775					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAATAAAAATGAGATAGAAGA	0.368																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(2323-2325)Gag>Tag		vezatin, adherens junctions transmembrane protein							23.0	23.0	23.0					12																	95694432		1815	4065	5880	SO:0001587	stop_gained	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694432G>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2323G>T	12.37:g.95694432G>T	ENSP00000410083:p.Glu775*		Somatic				VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*|VEZT_ENST00000356859.4_3'UTR	p.E775*	NM_017599.3	NP_060069.3	WXS	Illumina GAIIx	Phase_I	Q9HBM0	VEZA_HUMAN			12	2428	+			775					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Nonsense_Mutation	SNP	ENST00000436874.1	37	c.2323G>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831826	0.32421	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397796	.	.	.	5.65	4.77	0.60923	.	0.657220	0.16424	N	0.215050	.	.	.	.	.	.	0.30508	N	0.769683	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-38.923	6.7953	0.23722	0.0717:0.1255:0.6732:0.1296	.	.	.	.	X	775;727;775	.	ENSP00000261219:E727X	E	+	1	0	VEZT	94218563	0.771000	0.28555	0.004000	0.12327	0.001000	0.01503	1.957000	0.40392	1.399000	0.46721	-0.133000	0.14855	GAG		0.368	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		3	32	1	0	0.004672	1	0.00480827	3	32				
TLR7	51284	broad.mit.edu	37	X	12903798	12903798	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:12903798A>G	ENST00000380659.3	+	3	310	c.171A>G	c.(169-171)acA>acG	p.T57T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	57					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGCATTTGACAGAAATTCCTG	0.498																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(169-171)acA>acG		toll-like receptor 7	Imiquimod(DB00724)						162.0	147.0	152.0					X																	12903798		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903798A>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.171A>G	X.37:g.12903798A>G			Somatic					p.T57T	NM_016562.3	NP_057646.1	WXS	Illumina GAIIx	Phase_I	Q9NYK1	TLR7_HUMAN			3	310	+			57					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.171A>G	CCDS14151.1																																																																																				0.498	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		5	787	0	0	0	1	0	5	787				
CLK4	57396	broad.mit.edu	37	5	178050411	178050411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:178050411G>A	ENST00000316308.4	-	2	175	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	3					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		CTTTTGGAATGCCGCATCTGT	0.378																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(7-9)Cat>Tat		CDC-like kinase 4							124.0	107.0	113.0					5																	178050411		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178050411G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.7C>T	5.37:g.178050411G>A	ENSP00000316948:p.His3Tyr		Somatic				CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	p.H3Y	NM_020666.2	NP_065717.1	WXS	Illumina GAIIx	Phase_I	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	2	175	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	3						Missense_Mutation	SNP	ENST00000316308.4	37	c.7C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165622	0.57476	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.08282	3.11	5.56	5.56	0.83823	.	0.106561	0.64402	D	0.000006	T	0.29458	0.0734	M	0.78637	2.42	0.33186	D	0.550257	B;D;P;B;D	0.63880	0.376;0.993;0.865;0.376;0.993	B;P;P;B;D	0.70227	0.133;0.838;0.519;0.133;0.968	T	0.33727	-0.9857	10	0.54805	T	0.06	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	3;3;3;3;3	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	Y	3	ENSP00000316948:H3Y	ENSP00000316948:H3Y	H	-	1	0	CLK4	177983017	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.771000	0.62318	2.617000	0.88574	0.491000	0.48974	CAT		0.378	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			4	157	0	0	0	1	0	4	157				
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|MIR5685_ENST00000579080.1_RNA			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e4-2		ELOVL fatty acid elongase 5							76.0	68.0	71.0					6																	53141056		2203	4300	6503	SO:0001630	splice_region_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53141056T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.247-2A>T	6.37:g.53141056T>A			Somatic				ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NYP7	ELOV5_HUMAN			4	694	-	Lung NSC(77;0.116)							B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	ENST00000542638.1	37		CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380292	0.82682	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53249015	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.342000	0.79310	2.302000	0.77476	0.533000	0.62120	.		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	Intron	4	128	0	0	0	1	0	4	128				
CNNM4	26504	broad.mit.edu	37	2	97427127	97427127	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:97427127G>A	ENST00000377075.2	+	1	489	c.391G>A	c.(391-393)Gtg>Atg	p.V131M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	131					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						CACGTCCGGCGTGCTGGTGGT	0.657																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(391-393)Gtg>Atg		cyclin M4							65.0	66.0	66.0					2																	97427127		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427127G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.391G>A	2.37:g.97427127G>A	ENSP00000366275:p.Val131Met		Somatic					p.V131M	NM_020184.3	NP_064569.3	WXS	Illumina GAIIx	Phase_I	Q6P4Q7	CNNM4_HUMAN			1	489	+			131					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.391G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320433	0.23994	.	.	ENSG00000158158	ENST00000377075	T	0.74106	-0.81	4.72	-3.69	0.04450	.	0.415298	0.25584	N	0.029673	T	0.32823	0.0842	N	0.01003	-1.06	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.02533	-1.1145	10	0.21540	T	0.41	-25.8303	3.4764	0.07586	0.2594:0.1379:0.4673:0.1353	.	131	Q6P4Q7	CNNM4_HUMAN	M	131	ENSP00000366275:V131M	ENSP00000366275:V131M	V	+	1	0	CNNM4	96790854	0.736000	0.28164	0.997000	0.53966	0.996000	0.88848	0.077000	0.14738	-0.093000	0.12396	0.550000	0.68814	GTG		0.657	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		3	108	0	0	0	1	0	3	108				
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(487-489)atC>atT		olfactory receptor, family 56, subfamily A, member 3							118.0	119.0	119.0					11																	5969065		2182	4293	6475	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969065C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.489C>T	11.37:g.5969065C>T			Somatic					p.I163I	NM_001003443.2	NP_001003443.2	WXS	Illumina GAIIx	Phase_I	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	496	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	163					A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.489C>T	CCDS41614.1																																																																																				0.443	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		6	236	0	0	0	1	0	6	236				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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	7	106	0	0	0	1	0	7	106				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	77	0	0	0	1	0	4	77				
MLF2	8079	broad.mit.edu	37	12	6859100	6859100	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:6859100C>A	ENST00000203630.5	-	7	1117	c.473G>T	c.(472-474)cGg>cTg	p.R158L	MLF2_ENST00000435120.1_Missense_Mutation_p.R158L|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R158L|MLF2_ENST00000539187.1_Missense_Mutation_p.R158L			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	158					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						AGCCCTGTCCCGGATGTGATG	0.597																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(472-474)cGg>cTg		myeloid leukemia factor 2							135.0	101.0	113.0					12																	6859100		2203	4300	6503	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859100C>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.473G>T	12.37:g.6859100C>A	ENSP00000203630:p.Arg158Leu		Somatic				MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L|MLF2_ENST00000542154.1_Missense_Mutation_p.R158L	p.R158L			WXS	Illumina GAIIx	Phase_I	Q15773	MLF2_HUMAN			7	1117	-			158						Missense_Mutation	SNP	ENST00000203630.5	37	c.473G>T	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476972|4.476972	0.84640|0.84640	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.83|5.83	4.94|4.94	0.65067|0.65067	.|.	.|0.052679	.|0.85682	.|D	.|0.000000	T|T	0.56470|0.56470	0.1987|0.1987	L|L	0.46157|0.46157	1.445|1.445	0.52099|0.52099	D|D	0.999947|0.999947	.|P	.|0.43519	.|0.809	.|B	.|0.43916	.|0.436	T|T	0.55704|0.55704	-0.8099|-0.8099	6|9	0.87932|0.35671	D|T	0|0.21	.|.	16.4228|16.4228	0.83772|0.83772	0.1325:0.8675:0.0:0.0|0.1325:0.8675:0.0:0.0	.|.	.|158	.|Q15773	.|MLF2_HUMAN	W|L	169|158	.|.	ENSP00000439789:G169W|ENSP00000203630:R158L	G|R	-|-	1|2	0|0	MLF2|MLF2	6729361|6729361	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	7.487000|7.487000	0.81328|0.81328	1.458000|1.458000	0.47871|0.47871	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.597	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			7	183	1	0	0.0293803	1	0.0294998	7	183				
MAP4	4134	broad.mit.edu	37	3	47958049	47958049	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:47958049T>A	ENST00000360240.6	-	7	1786	c.1268A>T	c.(1267-1269)gAc>gTc	p.D423V	MAP4_ENST00000395734.3_Missense_Mutation_p.D423V|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.D440V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	423	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGATATAATGTCATTAGCCTG	0.493																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1318-1320)gAc>gTc		microtubule-associated protein 4							133.0	120.0	124.0					3																	47958049		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958049T>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1268A>T	3.37:g.47958049T>A	ENSP00000353375:p.Asp423Val		Somatic				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000395734.3_Missense_Mutation_p.D423V	p.D440V			WXS	Illumina GAIIx	Phase_I	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1406	-			423			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1319A>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106667	0.37145	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.14144	2.65;2.53;2.59	4.09	4.09	0.47781	.	.	.	.	.	T	0.35278	0.0926	M	0.79123	2.44	0.32916	D	0.515196	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.968;0.953	T	0.48958	-0.8988	9	0.62326	D	0.03	-3.6562	9.7638	0.40548	0.0:0.0:0.0:1.0	.	400;423;423	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	V	423;440;423	ENSP00000379083:D423V;ENSP00000407602:D440V;ENSP00000353375:D423V	ENSP00000353375:D423V	D	-	2	0	MAP4	47933053	0.069000	0.21087	0.004000	0.12327	0.002000	0.02628	3.790000	0.55461	2.071000	0.62044	0.459000	0.35465	GAC		0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		6	565	0	0	0	1	0	6	565				
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58.0	58.0	58.0					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T			Somatic				ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	WXS	Illumina GAIIx	Phase_I					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		3	52	0	0	0	1	0	3	52				
ESYT1	23344	broad.mit.edu	37	12	56531150	56531150	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56531150G>A	ENST00000394048.5	+	17	2195	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E	ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	644	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						AGCCAGTTTGGGACTGAGGTG	0.547																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1930-1932)gGg>gAg		extended synaptotagmin-like protein 1							101.0	101.0	101.0					12																	56531150		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531150G>A	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.1931G>A	12.37:g.56531150G>A	ENSP00000377612:p.Gly644Glu		Somatic				ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E|ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E	p.G644E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			17	2195	+			644			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1931G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676946	0.67928	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.55413	0.52;0.52;0.52	5.07	4.17	0.49024	C2 calcium/lipid-binding domain, CaLB (1);	0.115890	0.56097	N	0.000027	T	0.48187	0.1486	N	0.17474	0.49	0.41670	D	0.989231	D;D	0.76494	0.999;0.997	D;D	0.71414	0.973;0.942	T	0.47573	-0.9107	10	0.02654	T	1	-21.3124	10.8306	0.46659	0.0892:0.0:0.9108:0.0	.	654;644	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	E	644;598;654;654	ENSP00000377612:G644E;ENSP00000267113:G654E;ENSP00000445952:G654E	ENSP00000267113:G654E	G	+	2	0	ESYT1	54817417	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.576000	0.53878	1.271000	0.44313	0.655000	0.94253	GGG		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		3	124	0	0	0	1	0	3	124				
SLC5A1	6523	broad.mit.edu	37	22	32495254	32495254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:32495254C>A	ENST00000266088.4	+	12	1615	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	455					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCTTCGATTACATCCAGTCCA	0.502																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1363-1365)taC>taA		solute carrier family 5 (sodium/glucose cotransporter), member 1							251.0	231.0	238.0					22																	32495254		2203	4300	6503	SO:0001587	stop_gained	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495254C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1365C>A	22.37:g.32495254C>A	ENSP00000266088:p.Tyr455*		Somatic				SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	p.Y455*	NM_000343.3	NP_000334.1	WXS	Illumina GAIIx	Phase_I	P13866	SC5A1_HUMAN			12	1615	+			455					B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	c.1365C>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	38	6.801723	0.97849	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	.	.	.	5.29	-2.38	0.06622	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9864	0.53151	0.0:0.5091:0.0:0.4908	.	.	.	.	X	455;328	.	ENSP00000266088:Y455X	Y	+	3	2	SLC5A1	30825254	0.971000	0.33674	0.994000	0.49952	0.989000	0.77384	0.200000	0.17257	-0.126000	0.11682	-0.262000	0.10625	TAC		0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		6	599	1	0	0.00307968	1	0.00319614	6	599				
HAUS6	54801	broad.mit.edu	37	9	19060130	19060130	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:19060130G>A	ENST00000380502.3	-	15	2188	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	574					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTAAGAAGGGGTTAGAACC	0.373																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1720-1722)cCc>cTc		HAUS augmin-like complex, subunit 6							52.0	49.0	50.0					9																	19060130		2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19060130G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1721C>T	9.37:g.19060130G>A	ENSP00000369871:p.Pro574Leu		Somatic				HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	p.P574L	NM_017645.3	NP_060115.3	WXS	Illumina GAIIx	Phase_I	Q7Z4H7	HAUS6_HUMAN			15	2188	-			574					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1721C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673853	0.88445	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.63744	0.98;0.89;-0.06	5.78	5.78	0.91487	.	0.098404	0.64402	D	0.000001	T	0.80864	0.4705	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.99;1.0;0.982	T	0.82226	-0.0562	10	0.87932	D	0	-10.0816	18.9869	0.92775	0.0:0.0:1.0:0.0	.	539;574;438;574	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	L	574;438;90	ENSP00000369871:P574L;ENSP00000369865:P438L;ENSP00000409615:P90L	ENSP00000369865:P438L	P	-	2	0	HAUS6	19050130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.964000	0.87933	2.738000	0.93877	0.591000	0.81541	CCC		0.373	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		5	44	0	0	0	1	0	5	44				
GKN2	200504	broad.mit.edu	37	2	69173558	69173558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:69173558C>T	ENST00000328895.4	-	5	458	c.350G>A	c.(349-351)tGg>tAg	p.W117*	GKN2_ENST00000481498.1_Nonsense_Mutation_p.W117*	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	117	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.W117L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						GTACTTGACCCAGGTGTATTT	0.403																																						ENST00000481498.1																			1	Substitution - Missense(1)	p.W117L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(349-351)tGg>tAg		gastrokine 2							177.0	166.0	169.0					2																	69173558		2203	4300	6503	SO:0001587	stop_gained	200504					extracellular region		g.chr2:69173558C>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.350G>A	2.37:g.69173558C>T	ENSP00000329292:p.Trp117*		Somatic				GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117*	p.W117*			WXS	Illumina GAIIx	Phase_I	Q86XP6	GKN2_HUMAN			5	368	-			117			BRICHOS.		Q6UWS6	Nonsense_Mutation	SNP	ENST00000328895.4	37	c.350G>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307126	0.60305	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	.	.	.	4.73	4.73	0.59995	.	0.108661	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-27.6979	13.0756	0.59085	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000329292:W117X	W	-	2	0	GKN2	69027062	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.775000	0.55349	2.448000	0.82819	0.555000	0.69702	TGG		0.403	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		4	229	0	0	0	1	0	4	229				
ADAMTS16	170690	broad.mit.edu	37	5	5209271	5209271	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:5209271A>T	ENST00000274181.7	+	10	1655	c.1517A>T	c.(1516-1518)aAa>aTa	p.K506I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	506	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K506I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TATCCTGAGAAATTGCCAGGA	0.448																																						ENST00000274181.7																			2	Substitution - Missense(2)	p.K506I(2)	kidney(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1516-1518)aAa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							148.0	144.0	145.0					5																	5209271		1908	4136	6044	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5209271A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1517A>T	5.37:g.5209271A>T	ENSP00000274181:p.Lys506Ile		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	p.K506I	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			10	1655	+			506			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1517A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419835	0.62622	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.03035	4.07;4.07	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.056726	0.64402	D	0.000002	T	0.11367	0.0277	L	0.49778	1.585	0.80722	D	1	D;P;D	0.60160	0.987;0.954;0.957	P;P;P	0.59056	0.831;0.851;0.786	T	0.05068	-1.0908	10	0.36615	T	0.2	.	15.3147	0.74065	1.0:0.0:0.0:0.0	.	506;506;506	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	506	ENSP00000274181:K506I;ENSP00000421631:K506I	ENSP00000274181:K506I	K	+	2	0	ADAMTS16	5262271	1.000000	0.71417	0.999000	0.59377	0.180000	0.23129	8.184000	0.89702	2.251000	0.74343	0.528000	0.53228	AAA		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		19	497	0	0	0	1	0	19	497				
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4525-4527)Tca>Aca		Rho GTPase activating protein 21							278.0	245.0	256.0					10																	24874693		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874693A>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4525T>A	10.37:g.24874693A>T	ENSP00000379709:p.Ser1509Thr		Somatic					p.S1509T	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5011	-			1508					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4525T>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	11.26	1.584958	0.28268	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10573	2.86	4.47	-8.32	0.00996	.	0.858387	0.10257	N	0.696485	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	10	0.45353	T	0.12	.	2.44	0.04492	0.203:0.4215:0.1952:0.1802	.	1508	Q5T5U3	RHG21_HUMAN	T	1509;958	ENSP00000379709:S1509T	ENSP00000379709:S1509T	S	-	1	0	ARHGAP21	24914699	0.185000	0.23213	0.000000	0.03702	0.001000	0.01503	0.532000	0.23067	-2.209000	0.00739	-1.373000	0.01185	TCA		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		8	844	0	0	0	1	0	8	844				
GCN1L1	10985	broad.mit.edu	37	12	120576613	120576613	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:120576613C>A	ENST00000300648.6	-	46	6054	c.6042G>T	c.(6040-6042)ttG>ttT	p.L2014F		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2014					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGTCACACAAAGCCTTCC	0.547																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6040-6042)ttG>ttT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							152.0	159.0	157.0					12																	120576613		2080	4220	6300	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120576613C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6042G>T	12.37:g.120576613C>A	ENSP00000300648:p.Leu2014Phe		Somatic					p.L2014F	NM_006836.1	NP_006827.1	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			46	6054	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2014					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6042G>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998324	0.74818	.	.	ENSG00000089154	ENST00000300648	T	0.74632	-0.86	5.95	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	D	0.86948	0.6056	M	0.93939	3.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.85964	0.1472	10	0.87932	D	0	.	8.2962	0.31986	0.0:0.5874:0.2114:0.2012	.	2014	Q92616	GCN1L_HUMAN	F	2014	ENSP00000300648:L2014F	ENSP00000300648:L2014F	L	-	3	2	GCN1L1	119060996	0.828000	0.29307	0.994000	0.49952	0.998000	0.95712	-0.065000	0.11617	0.371000	0.24564	0.655000	0.94253	TTG		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			26	949	1	0	6.44725e-10	1	7.61605e-10	26	949				
CBLC	23624	broad.mit.edu	37	19	45284600	45284600	+	Missense_Mutation	SNP	G	G	C	rs557856786		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:45284600G>C	ENST00000270279.3	+	3	700	c.637G>C	c.(637-639)Gtc>Ctc	p.V213L	CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	213	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V213L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGAGTTCGACGTCTTCACCAG	0.612			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		1	Substitution - Missense(1)	p.V213L(1)	kidney(1)	breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(637-639)Gtc>Ctc		Cbl proto-oncogene C, E3 ubiquitin protein ligase							91.0	71.0	78.0					19																	45284600		2203	4300	6503	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284600G>C	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.637G>C	19.37:g.45284600G>C	ENSP00000270279:p.Val213Leu		Somatic				CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	p.V213L	NM_012116.3	NP_036248.3	WXS	Illumina GAIIx	Phase_I	Q9ULV8	CBLC_HUMAN			3	700	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	213			Cbl-PTB.|EF-hand-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.637G>C	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578086	0.28180	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.90504	-2.67;-2.68	3.78	-1.86	0.07760	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.835370	0.10011	N	0.727160	D	0.84211	0.5422	L	0.37697	1.125	0.36652	D	0.877464	B;B	0.21688	0.029;0.059	B;B	0.21917	0.037;0.024	T	0.73852	-0.3852	10	0.72032	D	0.01	-7.3284	8.5626	0.33520	0.5478:0.0:0.4522:0.0	.	213;213	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	L	213	ENSP00000270279:V213L;ENSP00000340250:V213L	ENSP00000270279:V213L	V	+	1	0	CBLC	49976440	1.000000	0.71417	0.993000	0.49108	0.612000	0.37316	2.506000	0.45433	-0.228000	0.09869	-0.676000	0.03789	GTC		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		52	34	0	0	0	1	0	52	34				
RAB29	8934	broad.mit.edu	37	1	205741655	205741655	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:205741655C>G	ENST00000367139.3	-	3	468	c.165G>C	c.(163-165)gaG>gaC	p.E55D	RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		55					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCGCACTATCTCGTAGTCAG	0.363																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(163-165)gaG>gaC		RAB7, member RAS oncogene family-like 1							154.0	166.0	162.0					1																	205741655		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741655C>G																												ENST00000367139.3:c.165G>C	1.37:g.205741655C>G	ENSP00000356107:p.Glu55Asp		Somatic				RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron	p.E55D	NM_003929.2	NP_003920.1	WXS	Illumina GAIIx	Phase_I	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	468	-	Breast(84;0.0799)		55					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.165G>C	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788275	0.31593	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	1.92	0.25849	Small GTP-binding protein domain (1);	0.205242	0.43110	D	0.000604	T	0.61185	0.2327	N	0.13371	0.34	0.31781	N	0.63084	B	0.06786	0.001	B	0.22386	0.039	T	0.63355	-0.6656	10	0.87932	D	0	-7.8213	10.0975	0.42484	0.0:0.7418:0.0:0.2582	.	55	O14966	RAB7L_HUMAN	D	55	ENSP00000356107:E55D;ENSP00000235932:E55D;ENSP00000402910:E55D	ENSP00000235932:E55D	E	-	3	2	RAB7L1	204008278	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	0.950000	0.29122	0.627000	0.30340	-0.291000	0.09656	GAG		0.363	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			4	496	0	0	0	1	0	4	496				
TRPM8	79054	broad.mit.edu	37	2	234869499	234869499	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:234869499G>A	ENST00000324695.4	+	12	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1441-1443)gGc>gAc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						115.0	101.0	106.0					2																	234869499		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234869499G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1442G>A	2.37:g.234869499G>A	ENSP00000323926:p.Gly481Asp		Somatic				TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	p.G481D	NM_024080.4	NP_076985.4	WXS	Illumina GAIIx	Phase_I	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1482	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	481					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1442G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824141	0.90873	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.87571	-2.27;-2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.90542	3.125	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95387	0.8478	10	0.87932	D	0	-32.5183	18.6269	0.91344	0.0:0.0:1.0:0.0	.	169;481	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	D	481;169	ENSP00000323926:G481D;ENSP00000404423:G169D	ENSP00000323926:G481D	G	+	2	0	TRPM8	234534238	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	8.142000	0.89619	2.735000	0.93741	0.655000	0.94253	GGC		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		5	494	0	0	0	1	0	5	494				
LIX1L	128077	broad.mit.edu	37	1	145492240	145492240	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:145492240C>T	ENST00000369308.3	+	3	536	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000366105.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	154										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAGTTTTGCCCCACAAAAG	0.448																																						ENST00000369308.3																			0				large_intestine(4)|lung(6)|ovary(2)|skin(1)	13						c.(460-462)tgC>tgT		Lix1 homolog (mouse)-like							78.0	80.0	79.0					1																	145492240		2203	4300	6503	SO:0001819	synonymous_variant	128077							g.chr1:145492240C>T	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.462C>T	1.37:g.145492240C>T			Somatic				RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	p.C154C	NM_153713.1	NP_714924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB5	LIX1L_HUMAN			3	536	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		154					Q6AI36	Silent	SNP	ENST00000369308.3	37	c.462C>T	CCDS915.1																																																																																				0.448	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		4	392	0	0	0	1	0	4	392				
SLC9A9	285195	broad.mit.edu	37	3	143297454	143297454	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:143297454C>A	ENST00000316549.6	-	7	1075	c.867G>T	c.(865-867)ggG>ggT	p.G289G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	289					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G289G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATACGCAGACCCCATTGCAA	0.458																																						ENST00000316549.6																			1	Substitution - coding silent(1)	p.G289G(1)	kidney(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(865-867)ggG>ggT		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							111.0	105.0	107.0					3																	143297454		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143297454C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.867G>T	3.37:g.143297454C>A			Somatic					p.G289G	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			7	1075	-			289					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.867G>T	CCDS33872.1																																																																																				0.458	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		33	357	1	0	3.78316e-11	1	4.49528e-11	33	357				
BICD1	636	broad.mit.edu	37	12	32369279	32369279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:32369279C>A	ENST00000281474.5	+	2	415	c.312C>A	c.(310-312)taC>taA	p.Y104*	BICD1_ENST00000548411.1_Nonsense_Mutation_p.Y104*	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	104					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGGCTTACTATCTGGGGA	0.547																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(310-312)taC>taA		bicaudal D homolog 1 (Drosophila)							114.0	106.0	109.0					12																	32369279		2203	4300	6503	SO:0001587	stop_gained	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369279C>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.312C>A	12.37:g.32369279C>A	ENSP00000281474:p.Tyr104*		Somatic				BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104*	p.Y104*	NM_001003398.1	NP_001003398.1	WXS	Illumina GAIIx	Phase_I	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	493	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		104					A8K2C3|F8W113|O43892|O43893	Nonsense_Mutation	SNP	ENST00000281474.5	37	c.312C>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823051	0.96989	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	.	.	.	5.55	3.72	0.42706	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.8125	0.46555	0.0:0.7105:0.0:0.2895	.	.	.	.	X	104	.	ENSP00000281474:Y104X	Y	+	3	2	BICD1	32260546	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	0.375000	0.20518	0.316000	0.23135	-0.797000	0.03246	TAC		0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		10	188	1	0	0.000442599	1	0.000475559	10	188				
COPS4	51138	broad.mit.edu	37	4	83970374	83970374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:83970374C>A	ENST00000264389.2	+	3	345	c.210C>A	c.(208-210)tgC>tgA	p.C70*	COPS4_ENST00000509093.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	70					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.C70*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTGATTTTTGCACACATCTTC	0.383																																						ENST00000509093.1																			1	Substitution - Nonsense(1)	p.C70*(1)	kidney(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(208-210)tgC>tgA		COP9 signalosome subunit 4							117.0	110.0	112.0					4																	83970374		2203	4300	6503	SO:0001587	stop_gained	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83970374C>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.210C>A	4.37:g.83970374C>A	ENSP00000264389:p.Cys70*		Somatic				COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	p.C70*	NM_001258006.1	NP_001244935.1	WXS	Illumina GAIIx	Phase_I	Q9BT78	CSN4_HUMAN			3	988	+		Hepatocellular(203;0.114)	70					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	c.210C>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523232	0.64747	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	.	.	.	5.69	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3895	6.9106	0.24333	0.0:0.5989:0.0:0.4011	.	.	.	.	X	70	.	ENSP00000264389:C70X	C	+	3	2	COPS4	84189398	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.418000	0.44662	0.718000	0.32166	-0.236000	0.12185	TGC		0.383	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			18	62	1	0	1.50039e-11	1	1.79337e-11	18	62				
OR52A1	23538	broad.mit.edu	37	11	5172907	5172907	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5172907C>A	ENST00000380367.1	-	2	1110	c.693G>T	c.(691-693)ttG>ttT	p.L231F	OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	231					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTGGGGCAAACGAAAAA	0.428																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(691-693)ttG>ttT		olfactory receptor, family 52, subfamily A, member 1							170.0	156.0	161.0					11																	5172907		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172907C>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.693G>T	11.37:g.5172907C>A	ENSP00000369725:p.Leu231Phe		Somatic				OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F	p.L231F			WXS	Illumina GAIIx	Phase_I	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1110	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	231					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.693G>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128613	0.37533	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00152	8.66;8.66	5.33	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001215	T	0.00412	0.0013	M	0.89214	3.015	0.30593	N	0.761365	D	0.89917	1.0	D	0.97110	1.0	T	0.20672	-1.0268	10	0.72032	D	0.01	.	3.4927	0.07644	0.1394:0.5687:0.1354:0.1565	.	231	Q9UKL2	O52A1_HUMAN	F	231	ENSP00000369725:L231F;ENSP00000333684:L231F	ENSP00000333684:L231F	L	-	3	2	OR52A1	5129483	0.000000	0.05858	0.992000	0.48379	0.157000	0.22087	-1.224000	0.02959	1.505000	0.48720	-0.145000	0.13849	TTG		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		15	199	1	0	0.00316338	1	0.00331089	15	199				
KLRB1	3820	broad.mit.edu	37	12	9747902	9747902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:9747902G>T	ENST00000229402.3	-	6	692	c.646C>A	c.(646-648)Cct>Act	p.P216T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	216					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						TTTCTCACAGGTGTTAGTTCT	0.373																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(646-648)Cct>Act		killer cell lectin-like receptor subfamily B, member 1							181.0	163.0	170.0					12																	9747902		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9747902G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.646C>A	12.37:g.9747902G>T	ENSP00000229402:p.Pro216Thr		Somatic					p.P216T	NM_002258.2	NP_002249.1	WXS	Illumina GAIIx	Phase_I	Q12918	KLRB1_HUMAN			6	692	-			216					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.646C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	.	3.422	-0.117947	0.06838	.	.	ENSG00000111796	ENST00000229402	T	0.31247	1.5	3.24	-3.58	0.04597	C-type lectin fold (1);	.	.	.	.	T	0.15522	0.0374	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.32375	-0.9909	9	0.19147	T	0.46	0.4109	0.1719	0.00114	0.2929:0.1475:0.2594:0.3002	.	216	Q12918	KLRB1_HUMAN	T	216	ENSP00000229402:P216T	ENSP00000229402:P216T	P	-	1	0	KLRB1	9639169	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.944000	0.03913	-0.885000	0.03971	-0.830000	0.03078	CCT		0.373	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		8	283	1	0	1.06961e-07	1	1.23464e-07	8	283				
ANKRD42	338699	broad.mit.edu	37	11	82905759	82905759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:82905759C>T	ENST00000393392.2	+	1	209	c.47C>T	c.(46-48)aCt>aTt	p.T16I	ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393389.3_Missense_Mutation_p.T16I|RP11-727A23.5_ENST00000500634.2_RNA|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000528722.1_Intron	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	16					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T16I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGGAGACTGCAAACCCC	0.572																																						ENST00000393389.3																			1	Substitution - Missense(1)	p.T16I(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(46-48)aCt>aTt		ankyrin repeat domain 42							125.0	108.0	114.0					11																	82905759		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82905759C>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.47C>T	11.37:g.82905759C>T	ENSP00000377051:p.Thr16Ile		Somatic				ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I	p.T16I			WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			1	979	+			16					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.47C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256603	0.22965	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.69926	-0.35;-0.41;-0.44;-0.31;-0.26;-0.33	3.46	0.371	0.16168	Ankyrin repeat-containing domain (1);	1.033460	0.07703	N	0.940834	T	0.54919	0.1888	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.30763	0.085;0.034;0.294;0.011;0.035	B;B;B;B;B	0.22152	0.016;0.036;0.038;0.004;0.011	T	0.36962	-0.9726	9	.	.	.	.	6.7008	0.23225	0.1935:0.4301:0.3765:0.0	.	16;16;281;107;16	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	I	335;16;16;16;16;16;16	ENSP00000377049:T16I;ENSP00000260047:T16I;ENSP00000433585:T16I;ENSP00000434666:T16I;ENSP00000377051:T16I;ENSP00000435790:T16I	.	T	+	2	0	ANKRD42	82583407	0.072000	0.21174	0.001000	0.08648	0.008000	0.06430	0.850000	0.27737	0.086000	0.17137	-0.176000	0.13171	ACT		0.572	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		27	79	0	0	0	1	0	27	79				
SIPA1L2	57568	broad.mit.edu	37	1	232650730	232650730	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:232650730C>G	ENST00000366630.1	-	2	714	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	119					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S119T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCTGGTCACTCTGCCCATT	0.502																																						ENST00000366630.1																			1	Substitution - Missense(1)	p.S119T(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(355-357)aGt>aCt		signal-induced proliferation-associated 1 like 2							150.0	146.0	147.0					1																	232650730		2049	4219	6268	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650730C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.356G>C	1.37:g.232650730C>G	ENSP00000355589:p.Ser119Thr		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T	p.S119T			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	714	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	119					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.356G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888248	0.02511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78816	-1.21;-1.21	5.19	0.389	0.16269	.	0.475434	0.23684	N	0.045600	T	0.58991	0.2161	N	0.22421	0.69	0.09310	N	0.999999	B	0.14012	0.009	B	0.17098	0.017	T	0.40136	-0.9579	10	0.18710	T	0.47	-18.0713	8.5864	0.33660	0.0:0.3069:0.0:0.6931	.	119	Q9P2F8	SI1L2_HUMAN	T	119	ENSP00000355589:S119T;ENSP00000262861:S119T	ENSP00000262861:S119T	S	-	2	0	SIPA1L2	230717353	0.019000	0.18553	0.021000	0.16686	0.866000	0.49608	0.163000	0.16520	-0.086000	0.12550	-0.312000	0.09012	AGT		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		45	185	0	0	0	1	0	45	185				
ERICH1	157697	broad.mit.edu	37	8	623839	623839	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:623839A>T	ENST00000262109.7	-	4	590	c.513T>A	c.(511-513)atT>atA	p.I171I	ERICH1_ENST00000522706.1_Silent_p.I77I|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTTTTAATTTGCTGTT	0.473																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(511-513)atT>atA		glutamate-rich 1							62.0	68.0	66.0					8																	623839		2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:623839A>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.513T>A	8.37:g.623839A>T			Somatic				ERICH1_ENST00000522706.1_Silent_p.I77I	p.I171I	NM_207332.1	NP_997215.1	WXS	Illumina GAIIx	Phase_I	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	590	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	171					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.513T>A	CCDS5955.1																																																																																				0.473	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		5	48	0	0	0	1	0	5	48				
PLCB4	5332	broad.mit.edu	37	20	9424626	9424626	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:9424626A>T	ENST00000378493.1	+	27	2743		c.e27-1		PLCB4_ENST00000378501.2_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTGTTTAGGTATTGAAC	0.308																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.e27-1		phospholipase C, beta 4							98.0	97.0	97.0					20																	9424626		2203	4297	6500	SO:0001630	splice_region_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424626A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2729-1A>T	20.37:g.9424626A>T			Somatic				PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site		NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			27	2743	+								B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	SNP	ENST00000378493.1	37		CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061594	0.76187	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7086	0.77606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB4	9372626	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	8.382000	0.90154	2.113000	0.64589	0.528000	0.53228	.		0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		Intron	6	144	0	0	0	1	0	6	144				
KDM8	79831	broad.mit.edu	37	16	27221579	27221579	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:27221579G>A	ENST00000286096.4	+	2	308	c.135G>A	c.(133-135)gtG>gtA	p.V45V	KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V|KDM8_ENST00000380948.2_Silent_p.V45V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	45					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										AGAGGAGCGTGGTGACATTGT	0.592																																						ENST00000286096.4																			0											c.(133-135)gtG>gtA		lysine (K)-specific demethylase 8							76.0	48.0	57.0					16																	27221579		2194	4293	6487	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221579G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.135G>A	16.37:g.27221579G>A			Somatic				KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V|KDM8_ENST00000380948.2_Silent_p.V45V	p.V45V	NM_024773.2	NP_079049.2	WXS	Illumina GAIIx	Phase_I	Q8N371	KDM8_HUMAN			2	308	+			45					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.135G>A	CCDS10627.1																																																																																				0.592	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		38	192	0	0	0	1	0	38	192				
PCDHA8	56140	broad.mit.edu	37	5	140222940	140222940	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140222940G>A	ENST00000531613.1	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAAGCGTCATCGAGGC	0.632																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2032-2034)gcG>gcA									67.0	66.0	66.0					5																	140222940		2196	4266	6462	SO:0001819	synonymous_variant	56140							g.chr5:140222940G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2034G>A	5.37:g.140222940G>A			Somatic				PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.A678A	NM_018911.2	NP_061734.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2034	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2034G>A	CCDS54919.1																																																																																				0.632	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		3	48	0	0	0	1	0	3	48				
RTN4	57142	broad.mit.edu	37	2	55253832	55253832	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:55253832T>G	ENST00000337526.6	-	3	1646	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	468					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.N262T(1)|p.N468T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTGCTGGGTTAAAGGGAGC	0.378																																						ENST00000337526.6																			2	Substitution - Missense(2)	p.N262T(1)|p.N468T(1)	kidney(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1402-1404)aAc>aCc		reticulon 4							152.0	142.0	145.0					2																	55253832		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253832T>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1403A>C	2.37:g.55253832T>G	ENSP00000337838:p.Asn468Thr		Somatic				RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000317610.7_Intron	p.N468T	NM_020532.4	NP_065393.1	WXS	Illumina GAIIx	Phase_I	Q9NQC3	RTN4_HUMAN			3	1646	-			468					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1403A>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	7.278	0.608553	0.14002	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17528	2.27;2.27;2.4;2.27;2.27;2.27	6.06	-3.71	0.04424	.	0.896264	0.09813	N	0.752522	T	0.09379	0.0231	L	0.31294	0.92	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.39313	-0.9620	10	0.19147	T	0.46	-0.049	6.0788	0.19931	0.0:0.3465:0.2497:0.4038	.	468	Q9NQC3	RTN4_HUMAN	T	262;262;468;262;262;236	ENSP00000384471:N262T;ENSP00000349944:N262T;ENSP00000337838:N468T;ENSP00000378109:N262T;ENSP00000385650:N262T;ENSP00000346465:N236T	ENSP00000337838:N468T	N	-	2	0	RTN4	55107336	0.962000	0.33011	0.009000	0.14445	0.749000	0.42624	0.050000	0.14120	-0.909000	0.03852	0.528000	0.53228	AAC		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			11	158	0	0	0	1	0	11	158				
ZNF134	7693	broad.mit.edu	37	19	58132522	58132522	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:58132522G>T	ENST00000396161.5	+	3	1345	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGCCGTTTGAGTGCATTGAAT	0.428																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(1033-1035)gaG>gaT		zinc finger protein 134							167.0	167.0	167.0					19																	58132522		2134	4269	6403	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132522G>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1035G>T	19.37:g.58132522G>T	ENSP00000379464:p.Glu345Asp		Somatic					p.E345D	NM_003435.3	NP_003426.3	WXS	Illumina GAIIx	Phase_I	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1345	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	345					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1035G>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469106	0.26423	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.22134	1.97	4.52	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	L	0.48642	1.525	0.09310	N	0.999992	P	0.43231	0.801	B	0.41036	0.346	T	0.19778	-1.0295	9	0.66056	D	0.02	.	6.1954	0.20548	0.5199:0.2144:0.2656:0.0	.	345	P52741	ZN134_HUMAN	D	412;265;345	ENSP00000379464:E345D	ENSP00000379464:E345D	E	+	3	2	ZNF134	62824334	.	.	0.877000	0.34402	0.451000	0.32288	.	.	-0.213000	0.10094	-0.880000	0.02959	GAG		0.428	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		5	432	1	0	0.000602214	1	0.000636897	5	432				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	74	0	0	0	1	0	4	74				
BRCA2	675	broad.mit.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:32910986G>A	ENST00000380152.3	+	11	2727	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E832K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		2	Substitution - Missense(2)	p.E832K(2)	kidney(2)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2494-2496)Gag>Aag	Homologous recombination	breast cancer 2, early onset							57.0	60.0	59.0					13																	32910986		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910986G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2494G>A	13.37:g.32910986G>A	ENSP00000369497:p.Glu832Lys	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K	p.E832K	NM_000059.3	NP_000050.2	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2721	+		Lung SC(185;0.0262)	832			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.2494G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117532	0.20877	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.67345	-0.26;-0.26	5.58	2.78	0.32641	.	0.812302	0.11148	N	0.594480	T	0.49541	0.1563	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.33650	-0.9860	10	0.23891	T	0.37	.	8.0201	0.30404	0.164:0.3361:0.4999:0.0	.	832	P51587	BRCA2_HUMAN	K	832	ENSP00000369497:E832K;ENSP00000439902:E832K	ENSP00000369497:E832K	E	+	1	0	BRCA2	31808986	0.394000	0.25246	0.003000	0.11579	0.042000	0.13812	1.408000	0.34668	0.692000	0.31613	0.591000	0.81541	GAG		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	51	0	0	0	1	0	7	51				
EVA1C	59271	broad.mit.edu	37	21	33840085	33840085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:33840085C>T	ENST00000300255.2	+	4	1036	c.563C>T	c.(562-564)tCt>tTt	p.S188F	EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	188	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AACATCTACTCTGCGACCTAC	0.483																																						ENST00000300255.2																			0											c.(562-564)tCt>tTt		eva-1 homolog C (C. elegans)							89.0	72.0	78.0					21																	33840085		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33840085C>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.563C>T	21.37:g.33840085C>T	ENSP00000300255:p.Ser188Phe		Somatic				EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	p.S188F	NM_058187.3	NP_478067.2	WXS	Illumina GAIIx	Phase_I					4	1036	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.563C>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107685	0.77096	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.16897	2.31;2.85;2.31;2.31	5.61	3.7	0.42460	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.243845	0.42821	N	0.000657	T	0.24509	0.0594	L	0.31420	0.93	0.48236	D	0.999615	D;D;D	0.57899	0.981;0.976;0.972	P;P;P	0.61658	0.892;0.879;0.646	T	0.01476	-1.1345	10	0.52906	T	0.07	-16.4419	11.0911	0.48117	0.0:0.8016:0.1286:0.0698	.	188;188;188	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	F	188;188;188;93	ENSP00000300255:S188F;ENSP00000384594:S188F;ENSP00000372146:S188F;ENSP00000389269:S93F	ENSP00000300255:S188F	S	+	2	0	C21orf63	32761956	0.984000	0.35163	0.893000	0.35052	0.939000	0.58152	2.712000	0.47186	1.400000	0.46741	-0.156000	0.13503	TCT		0.483	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		6	105	0	0	0	1	0	6	105				
CCDC122	160857	broad.mit.edu	37	13	44433878	44433878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:44433878A>T	ENST00000444614.3	-	5	743	c.485T>A	c.(484-486)tTa>tAa	p.L162*	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CATTGTCTTTAATTTTTTAAC	0.318																																						ENST00000444614.3																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(484-486)tTa>tAa		coiled-coil domain containing 122							111.0	111.0	111.0					13																	44433878		2203	4296	6499	SO:0001587	stop_gained	160857							g.chr13:44433878A>T	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.485T>A	13.37:g.44433878A>T	ENSP00000407763:p.Leu162*		Somatic				CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR	p.L162*	NM_144974.3	NP_659411.2	WXS	Illumina GAIIx	Phase_I	Q5T0U0	CC122_HUMAN		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)	5	743	-		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)	162					B2RP70|B7ZMI9|Q96MV0	Nonsense_Mutation	SNP	ENST00000444614.3	37	c.485T>A	CCDS9390.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163788	0.78226	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	.	.	.	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.389	15.3077	0.74004	1.0:0.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000281508:L162X	L	-	2	0	CCDC122	43331878	1.000000	0.71417	0.919000	0.36401	0.073000	0.16967	6.394000	0.73223	2.201000	0.70794	0.477000	0.44152	TTA		0.318	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974		4	74	0	0	0	1	0	4	74				
GNAZ	2781	broad.mit.edu	37	22	23465467	23465467	+	Missense_Mutation	SNP	G	G	A	rs368759895		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:23465467G>A	ENST00000248996.4	+	3	1583	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACATCCAGCGGCAGTTTGAA	0.577																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(916-918)cGg>cAg		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	125.0	98.0	107.0		917,	5.1	1.0	22		107	0,8600		0,0,4300	no	missense,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	43,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	306/356,	23465467	1,13005	2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465467G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.917G>A	22.37:g.23465467G>A	ENSP00000248996:p.Arg306Gln		Somatic				RTDR1_ENST00000216036.4_Intron	p.R306Q	NM_002073.2	NP_002064.1	WXS	Illumina GAIIx	Phase_I	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1583	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		306					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.917G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387103	0.82902	2.27E-4	0.0	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88354	-2.37	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	N	0.02665	-0.54	0.58432	D	0.99999	B	0.34329	0.449	B	0.35770	0.21	T	0.75747	-0.3209	10	0.15499	T	0.54	.	17.9627	0.89090	0.0:0.0:1.0:0.0	.	306	P19086	GNAZ_HUMAN	Q	306;254	ENSP00000248996:R306Q	ENSP00000248996:R306Q	R	+	2	0	GNAZ	21795467	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.655000	0.83696	2.580000	0.87095	0.655000	0.94253	CGG		0.577	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		5	444	0	0	0	1	0	5	444				
DNAH5	1767	broad.mit.edu	37	5	13766201	13766201	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:13766201G>A	ENST00000265104.4	-	59	10089	c.9985C>T	c.(9985-9987)Ctg>Ttg	p.L3329L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3329	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)					CTTTGAAACAGCAGCAGTACG	0.517									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.(9985-9987)Ctg>Ttg		dynein, axonemal, heavy chain 5							119.0	115.0	117.0					5																	13766201		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766201G>A	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.9985C>T	5.37:g.13766201G>A			Somatic				DNAH5_ENST00000504001.3_Intron	p.L3329L	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10089	-	Lung NSC(4;0.00476)		3329			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9985C>T	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	273	0	0	0	1	0	4	273				
ZNF236	7776	broad.mit.edu	37	18	74659521	74659521	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:74659521C>T	ENST00000253159.8	+	27	5019	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G	ZNF236_ENST00000320610.9_Silent_p.G1609G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1607					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCTCGGGCCAGGGTGGAG	0.507																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4819-4821)ggC>ggT		zinc finger protein 236							59.0	69.0	66.0					18																	74659521		2135	4246	6381	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74659521C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4821C>T	18.37:g.74659521C>T			Somatic				ZNF236_ENST00000320610.9_Silent_p.G1609G	p.G1607G	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	27	5019	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1607					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.4821C>T	CCDS42447.1																																																																																				0.507	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	296	0	0	0	1	0	4	296				
ABCA5	23461	broad.mit.edu	37	17	67302932	67302932	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:67302932A>T	ENST00000392676.3	-	6	786	c.722T>A	c.(721-723)gTa>gAa	p.V241E	ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E|ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	241					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTTTCTGCTACGATATGAAT	0.269																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(721-723)gTa>gAa		ATP-binding cassette, sub-family A (ABC1), member 5							28.0	30.0	29.0					17																	67302932		2193	4288	6481	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302932A>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.722T>A	17.37:g.67302932A>T	ENSP00000376443:p.Val241Glu		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E|ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E	p.V241E			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			6	786	-	Breast(10;3.72e-11)		241					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.722T>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856252	0.71834	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89552	-2.53;-2.53	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000063	D	0.94115	0.8113	M	0.80746	2.51	0.52099	D	0.999944	D;D	0.76494	0.998;0.999	D;D	0.74674	0.962;0.984	D	0.94328	0.7559	9	.	.	.	.	14.9434	0.71012	1.0:0.0:0.0:0.0	.	241;241	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	E	241	ENSP00000376444:V241E;ENSP00000376443:V241E	.	V	-	2	0	ABCA5	64814527	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.748000	0.62148	1.907000	0.55213	0.533000	0.62120	GTA		0.269	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		6	44	0	0	0	1	0	6	44				
PCDHA1	56147	broad.mit.edu	37	5	140167893	140167893	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140167893G>A	ENST00000504120.2	+	1	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGAGCGGCCAGGCGCCA	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2017-2019)gGc>gAc									42.0	47.0	45.0					5																	140167893		2201	4300	6501	SO:0001583	missense	56147							g.chr5:140167893G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2018G>A	5.37:g.140167893G>A	ENSP00000420840:p.Gly673Asp		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D	p.G673D	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2018	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2018G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238767	0.22711	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52295	0.69;0.67	3.89	3.01	0.34805	Cadherin (2);	0.372159	0.19064	U	0.123692	T	0.27205	0.0667	N	0.01640	-0.785	0.20703	N	0.999866	P;P	0.45283	0.855;0.827	P;P	0.48677	0.461;0.586	T	0.10870	-1.0611	10	0.42905	T	0.14	.	9.5858	0.39514	0.0:0.2426:0.7574:0.0	.	673;673	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	D	673	ENSP00000420840:G673D;ENSP00000367373:G673D	ENSP00000367373:G673D	G	+	2	0	PCDHA1	140148077	0.094000	0.21725	0.154000	0.22540	0.008000	0.06430	1.230000	0.32612	0.723000	0.32274	-0.219000	0.12488	GGC		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		3	24	0	0	0	1	0	3	24				
NOMO1	23420	broad.mit.edu	37	16	14982971	14982971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:14982971G>A	ENST00000287667.7	+	29	3514	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1115						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTGCTTCTGGACTCCACACT	0.433																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3343-3345)Gac>Aac		NODAL modulator 1							129.0	137.0	134.0					16																	14982971		2191	4293	6484	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14982971G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3343G>A	16.37:g.14982971G>A	ENSP00000287667:p.Asp1115Asn		Somatic					p.D1115N	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			29	3514	+			1115					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3343G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314842	0.60524	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.34072	1.38	3.34	3.34	0.38264	.	0.057206	0.64402	D	0.000001	T	0.25827	0.0629	L	0.40543	1.245	0.53688	D	0.999972	P	0.42827	0.791	B	0.35114	0.196	T	0.06862	-1.0803	10	0.33141	T	0.24	-27.3248	12.2712	0.54708	0.0:0.0:1.0:0.0	.	1115	Q15155	NOMO1_HUMAN	N	1115;1115;948	ENSP00000287667:D1115N	ENSP00000287667:D1115N	D	+	1	0	NOMO1	14890472	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.608000	0.67654	1.701000	0.51217	0.398000	0.26397	GAC		0.433	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			17	1646	0	0	0	1	0	17	1646				
SART1	9092	broad.mit.edu	37	11	65746286	65746286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:65746286G>A	ENST00000312397.5	+	19	2377	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	762					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGAGCTCCAGCGACACGCCC	0.672																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2284-2286)aGc>aAc		squamous cell carcinoma antigen recognized by T cells							72.0	83.0	79.0					11																	65746286		2201	4296	6497	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65746286G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2285G>A	11.37:g.65746286G>A	ENSP00000310448:p.Ser762Asn		Somatic					p.S762N	NM_005146.4	NP_005137.1	WXS	Illumina GAIIx	Phase_I	O43290	SNUT1_HUMAN			19	2377	+			762					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.2285G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306054	0.81247	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24538	1.85	4.76	4.76	0.60689	.	0.053996	0.64402	D	0.000001	T	0.24005	0.0581	N	0.19112	0.55	0.58432	D	0.999999	P	0.49185	0.92	P	0.47299	0.543	T	0.04053	-1.0981	10	0.87932	D	0	-25.1842	15.3127	0.74048	0.0:0.0:1.0:0.0	.	762	O43290	SNUT1_HUMAN	N	762;604	ENSP00000310448:S762N	ENSP00000310448:S762N	S	+	2	0	SART1	65502862	1.000000	0.71417	0.997000	0.53966	0.497000	0.33675	8.836000	0.92105	2.483000	0.83821	0.491000	0.48974	AGC		0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			5	622	0	0	0	1	0	5	622				
C17orf58	284018	broad.mit.edu	37	17	65989118	65989118	+	Intron	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:65989118T>C	ENST00000449250.2	-	2	293				RP11-855A2.5_ENST00000580729.1_lincRNA|C17orf58_ENST00000536693.1_Missense_Mutation_p.T49A|C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58											lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAACGGTGGTATAAAGTACA	0.498																																						ENST00000536693.1																			0				lung(2)	2						c.(145-147)Acc>Gcc		chromosome 17 open reading frame 58							72.0	72.0	72.0					17																	65989118		1906	4125	6031	SO:0001627	intron_variant	284018							g.chr17:65989118T>C	AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.103+41A>G	17.37:g.65989118T>C			Somatic				C17orf58_ENST00000449250.2_Intron|C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A	p.T49A			WXS	Illumina GAIIx	Phase_I	Q2M2W7	CQ058_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	550	-	all_cancers(12;4.57e-10)		0					A8MQV2	Missense_Mutation	SNP	ENST00000449250.2	37	c.145A>G	CCDS45765.1	.	.	.	.	.	.	.	.	.	.	T	8.794	0.931250	0.18131	.	.	ENSG00000186665	ENST00000334461;ENST00000536693	.	.	.	2.53	-1.42	0.08913	.	0.256774	0.31495	N	0.007558	T	0.23806	0.0576	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09122	-1.0689	8	0.37606	T	0.19	.	5.8087	0.18454	0.0:0.4556:0.0:0.5444	.	49	Q2M2W7-2	.	A	49	.	ENSP00000334741:T49A	T	-	1	0	C17orf58	63419580	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.846000	0.04336	-0.262000	0.09392	-0.407000	0.06327	ACC		0.498	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448104.1	NM_181656		3	67	0	0	0	1	0	3	67				
SELP	6403	broad.mit.edu	37	1	169565309	169565309	+	Missense_Mutation	SNP	G	G	C	rs200005956		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:169565309G>C	ENST00000263686.6	-	12	1992	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	652	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACAGTACATGGTTCCCTGCCC	0.502																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1954-1956)aCc>aGc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						244.0	243.0	243.0					1																	169565309		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565309G>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1955C>G	1.37:g.169565309G>C	ENSP00000263686:p.Thr652Ser		Somatic				SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S|SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S	p.T652S	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	P16109	LYAM3_HUMAN			12	1992	-	all_hematologic(923;0.208)		652			Sushi 8.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1955C>G	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.294|8.294	0.818317|0.818317	0.16607|0.16607	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.22|4.22	3.29|3.29	0.37713|0.37713	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.554792	.|0.17245	.|N	.|0.181400	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.25060|0.25060	0.705|0.705	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.48162	.|0.118;0.056;0.906	.|B;B;P	.|0.47134	.|0.129;0.088;0.539	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.07644	.|T	.|0.81	-7.1005|-7.1005	10.1203|10.1203	0.42616|0.42616	0.0:0.2038:0.7962:0.0|0.0:0.2038:0.7962:0.0	.|.	.|652;652;652	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	K|S	467|466;652;651;468;652;652;590;590;468;466;590;590;575	.|ENSP00000263686:T652S;ENSP00000356767:T590S;ENSP00000356768:T590S;ENSP00000356766:T468S;ENSP00000356765:T466S;ENSP00000356762:T590S;ENSP00000356760:T590S	.|ENSP00000263686:T652S	N|T	-|-	3|2	2|0	SELP|SELP	167831933|167831933	0.000000|0.000000	0.05858|0.05858	0.794000|0.794000	0.32065|0.32065	0.334000|0.334000	0.28698|0.28698	0.202000|0.202000	0.17295|0.17295	1.096000|1.096000	0.41439|0.41439	0.563000|0.563000	0.77884|0.77884	AAC|ACC		0.502	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		5	625	0	0	0	1	0	5	625				
SREBF2	6721	broad.mit.edu	37	22	42276720	42276720	+	Splice_Site	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:42276720G>T	ENST00000361204.4	+	10	1928	c.1762G>T	c.(1762-1764)Gga>Tga	p.G588*		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	588					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACTTTGTAGGGAGATTTTGC	0.542																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e10-1		sterol regulatory element binding transcription factor 2							75.0	86.0	82.0					22																	42276720		2203	4300	6503	SO:0001630	splice_region_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42276720G>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1762-1G>T	22.37:g.42276720G>T			Somatic					p.G588_splice	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			10	1928	+			588					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Splice_Site	SNP	ENST00000361204.4	37	c.1761_splice	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.498181|7.498181	0.98322|0.98322	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000361204;ENST00000457567|ENST00000444813	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74137	.|0.3677	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73811	.|-0.3865	.|3	.|.	.|.	.|.	-16.0187|-16.0187	18.1685|18.1685	0.89736|0.89736	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	588|621	.|.	.|.	G|R	+|+	1|2	0|0	SREBF2|SREBF2	40606666|40606666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.799000|0.799000	0.45148|0.45148	9.568000|9.568000	0.98166|0.98166	2.292000|2.292000	0.77174|0.77174	0.478000|0.478000	0.44815|0.44815	GGA|AGG		0.542	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	Nonsense_Mutation	5	441	1	0	0.000602214	1	0.000636897	5	441				
RAB5B	5869	broad.mit.edu	37	12	56383757	56383757	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56383757C>T	ENST00000360299.5	+	3	411	c.190C>T	c.(190-192)Cta>Tta	p.L64L	RAB5B_ENST00000448789.2_Silent_p.L64L|RAB5B_ENST00000553116.1_Silent_p.L64L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	64					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTCCGTTTGTCTAGATGACAC	0.532																																						ENST00000360299.5																			0				endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(190-192)Cta>Tta		RAB5B, member RAS oncogene family							174.0	149.0	157.0					12																	56383757		2203	4300	6503	SO:0001819	synonymous_variant	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56383757C>T		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.190C>T	12.37:g.56383757C>T			Somatic				RAB5B_ENST00000448789.2_Silent_p.L64L|RAB5B_ENST00000553116.1_Silent_p.L64L	p.L64L	NM_002868.3	NP_002859.1	WXS	Illumina GAIIx	Phase_I	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		3	411	+			64					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Silent	SNP	ENST00000360299.5	37	c.190C>T	CCDS8900.1																																																																																				0.532	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			4	317	0	0	0	1	0	4	317				
ANKRD27	84079	broad.mit.edu	37	19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(451-453)Cga>Tga		ankyrin repeat domain 27 (VPS9 domain)							271.0	271.0	271.0					19																	33135305		2203	4300	6503	SO:0001587	stop_gained	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135305G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.451C>T	19.37:g.33135305G>A	ENSP00000304292:p.Arg151*		Somatic				ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	p.R151*	NM_032139.2	NP_115515.2	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			5	609	-	Esophageal squamous(110;0.137)		151					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	c.451C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903422	0.92035	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.61	3.46	0.39613	.	0.349077	0.26362	N	0.024811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2186	12.4471	0.55657	0.0:0.0:0.2771:0.7229	.	.	.	.	X	151	.	ENSP00000304292:R151X	R	-	1	2	ANKRD27	37827145	1.000000	0.71417	0.221000	0.23827	0.277000	0.26821	3.326000	0.52037	0.398000	0.25338	-0.538000	0.04264	CGA		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	1176	0	0	0	1	0	8	1176				
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					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)					TTCTGTTTTTAATTTAGCATC	0.299																																						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.(2206-2208)tTa>tAa		ATP-binding cassette, sub-family A (ABC1), member 6							85.0	86.0	85.0					17																	67107007		2202	4298	6500	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67107007A>T	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.2207T>A	17.37:g.67107007A>T	ENSP00000284425:p.Leu736*		Somatic					p.L736*	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			17	2381	-	Breast(10;5.65e-12)		736					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.2207T>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066029	0.98040	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.06	5.06	0.68205	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1378	0.65297	1.0:0.0:0.0:0.0	.	.	.	.	X	736	.	ENSP00000284425:L736X	L	-	2	0	ABCA6	64618602	0.269000	0.24143	0.995000	0.50966	0.324000	0.28378	5.117000	0.64667	2.109000	0.64355	0.455000	0.32223	TTA		0.299	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	121	0	0	0	1	0	4	121				
KCNA1	3736	broad.mit.edu	37	12	5021920	5021920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:5021920A>G	ENST00000382545.3	+	2	2483	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	459					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GAGATCGAAGAGGATATGAAT	0.458																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1375-1377)gAg>gGg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						186.0	181.0	183.0					12																	5021920		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021920A>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1376A>G	12.37:g.5021920A>G	ENSP00000371985:p.Glu459Gly		Somatic				KCNA1_ENST00000543874.2_Intron	p.E459G	NM_000217.2	NP_000208.2	WXS	Illumina GAIIx	Phase_I	Q09470	KCNA1_HUMAN			2	2483	+			459					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1376A>G	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611283	0.46631	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97209	-4.29	5.35	5.35	0.76521	.	0.110120	0.64402	D	0.000012	D	0.95620	0.8576	M	0.64567	1.98	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	D	0.93248	0.6632	10	0.42905	T	0.14	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	459	Q09470	KCNA1_HUMAN	G	459	ENSP00000371985:E459G	ENSP00000228858:E459G	E	+	2	0	KCNA1	4892181	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAG		0.458	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		4	307	0	0	0	1	0	4	307				
WFDC8	90199	broad.mit.edu	37	20	44181832	44181832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:44181832G>A	ENST00000357199.4	-	5	607	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	177	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTGTCTGTCTGGGGACAATCG	0.473																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(529-531)Cag>Tag		WAP four-disulfide core domain 8							141.0	116.0	124.0					20																	44181832		2203	4300	6503	SO:0001587	stop_gained	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181832G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.529C>T	20.37:g.44181832G>A	ENSP00000361735:p.Gln177*		Somatic				WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	p.Q177*	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			5	607	-		Myeloproliferative disorder(115;0.0122)	177			WAP 2.		E1P623|Q5TDV2|Q96A34	Nonsense_Mutation	SNP	ENST00000357199.4	37	c.529C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029325	0.19512	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	.	.	.	4.91	-9.81	0.00487	.	2.618950	0.00964	N	0.003149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	4.7215	0.12920	0.0883:0.1321:0.2465:0.533	.	.	.	.	X	177	.	ENSP00000289953:Q177X	Q	-	1	0	WFDC8	43615246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.406000	0.00125	-2.428000	0.00559	-1.193000	0.01689	CAG		0.473	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			4	368	0	0	0	1	0	4	368				
NOB1	28987	broad.mit.edu	37	16	69782875	69782875	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:69782875A>G	ENST00000268802.5	-	6	701	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	224					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGGACGTCACACTGCTCCA	0.597																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(670-672)tgT>tgC		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							90.0	65.0	74.0					16																	69782875		2198	4300	6498	SO:0001819	synonymous_variant	28987					nucleus	metal ion binding|protein binding	g.chr16:69782875A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.672T>C	16.37:g.69782875A>G			Somatic					p.C224C	NM_014062.1	NP_054781.1	WXS	Illumina GAIIx	Phase_I	Q9ULX3	NOB1_HUMAN			6	701	-			224					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	c.672T>C	CCDS10884.1																																																																																				0.597	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		4	91	0	0	0	1	0	4	91				
POLE	5426	broad.mit.edu	37	12	133244227	133244227	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					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)	AGGCTTTCCGGCAGTAATCTA	0.572								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.(2179-2181)tgC>tgT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							265.0	219.0	234.0					12																	133244227		2203	4300	6503	SO:0001819	synonymous_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.chr12:133244227G>A		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.2181C>T	12.37:g.133244227G>A			Somatic				POLE_ENST00000535270.1_Silent_p.C700C	p.C727C	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)	20	2224	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	727					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.2181C>T	CCDS9278.1																																																																																				0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	271	0	0	0	1	0	4	271				
MICAL3	57553	broad.mit.edu	37	22	18379546	18379546	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:18379546G>A	ENST00000441493.2	-	8	1502	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	384	Monooxygenase domain. {ECO:0000250}.				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)		TTCTGCTCCCGCACCAAGGCG	0.562											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(1150-1152)Cgg>Tgg		microtubule associated monooxygenase, calponin and LIM domain containing 3							58.0	52.0	54.0					22																	18379546		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18379546G>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.1150C>T	22.37:g.18379546G>A	ENSP00000416015:p.Arg384Trp		Somatic	OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	725	MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W	p.R384W	NM_015241.2	NP_056056.2	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	8	1502	-		all_epithelial(15;0.198)	384					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.1150C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312335	0.95655	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.85	5.85	0.93711	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.921;0.996;0.925	T	0.49153	-0.8969	10	0.66056	D	0.02	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	384;384;384;384	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	W	384	ENSP00000416015:R384W;ENSP00000414846:R384W;ENSP00000383406:R384W;ENSP00000410315:R384W;ENSP00000391827:R384W;ENSP00000372574:R384W;ENSP00000207726:R384W	ENSP00000207726:R384W	R	-	1	2	XXbac-B461K10.4;MICAL3	16759546	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.829000	0.99411	2.773000	0.95371	0.585000	0.79938	CGG		0.562	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	226	0	0	0	1	0	4	226				
NMT2	9397	broad.mit.edu	37	10	15161374	15161374	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:15161374G>A	ENST00000378165.4	-	9	1218	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	380					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATGTGCTCCCGGGGGAGGAAC	0.448																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(1138-1140)Cgg>Tgg		N-myristoyltransferase 2							188.0	179.0	182.0					10																	15161374		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15161374G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1138C>T	10.37:g.15161374G>A	ENSP00000367407:p.Arg380Trp		Somatic				NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	p.R380W	NM_004808.2	NP_004799.1	WXS	Illumina GAIIx	Phase_I	O60551	NMT2_HUMAN			9	1218	-			380					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.1138C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200969	0.38905	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.49139	0.79	5.61	2.6	0.31112	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.166280	0.53938	D	0.000051	T	0.55065	0.1897	M	0.86864	2.845	0.36554	D	0.872037	B;B;B	0.19200	0.004;0.034;0.004	B;B;B	0.21708	0.007;0.036;0.007	T	0.62623	-0.6815	10	0.87932	D	0	-10.3341	14.4766	0.67551	0.0:0.0:0.6038:0.3962	.	380;367;380	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	W	380;367;411;192;367	ENSP00000367407:R380W	ENSP00000367385:R411W	R	-	1	2	NMT2	15201380	1.000000	0.71417	0.496000	0.27539	0.445000	0.32107	6.495000	0.73665	0.245000	0.21373	-0.182000	0.12963	CGG		0.448	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		8	510	0	0	0	1	0	8	510				
DGKE	8526	broad.mit.edu	37	17	54921397	54921397	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:54921397A>G	ENST00000284061.3	+	3	662	c.482A>G	c.(481-483)aAa>aGa	p.K161R	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	161					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGGTGCCAGAAAACAGTACAT	0.308																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(481-483)aAa>aGa		diacylglycerol kinase, epsilon 64kDa							67.0	69.0	69.0					17																	54921397		2203	4297	6500	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54921397A>G	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.482A>G	17.37:g.54921397A>G	ENSP00000284061:p.Lys161Arg		Somatic				DGKE_ENST00000576869.1_3'UTR	p.K161R	NM_003647.2	NP_003638.1	WXS	Illumina GAIIx	Phase_I	P52429	DGKE_HUMAN			3	662	+	Breast(9;3.59e-07)		161					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.482A>G	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480547	0.04383	.	.	ENSG00000153933	ENST00000284061	D	0.83992	-1.79	5.57	3.33	0.38152	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.514144	0.21756	N	0.069600	T	0.51550	0.1681	N	0.01048	-1.04	0.40620	D	0.981754	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53732	-0.8397	10	0.02654	T	1	.	9.1432	0.36917	0.7256:0.0:0.2744:0.0	.	161;161	A1L4Q0;P52429	.;DGKE_HUMAN	R	161	ENSP00000284061:K161R	ENSP00000284061:K161R	K	+	2	0	DGKE	52276396	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	2.108000	0.41854	0.952000	0.37798	0.455000	0.32223	AAA		0.308	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		4	68	0	0	0	1	0	4	68				
ACSL1	2180	broad.mit.edu	37	4	185687852	185687852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:185687852C>A	ENST00000515030.1	-	13	1512	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M|ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	396					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTTCTTTCCTCTTGGAGGC	0.498																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1186-1188)aGg>aTg		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						123.0	116.0	119.0					4																	185687852		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687852C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1187G>T	4.37:g.185687852C>A	ENSP00000422607:p.Arg396Met		Somatic				ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M	p.R396M			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	13	1512	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	396					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1187G>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618943	0.66787	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.06	5.06	0.68205	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.55017	1.72	0.80722	D	1	P;P;P	0.38250	0.541;0.624;0.624	P;B;B	0.45474	0.482;0.411;0.316	T	0.05599	-1.0875	10	0.35671	T	0.21	-23.223	18.4603	0.90736	0.0:1.0:0.0:0.0	.	362;396;396	E7EPM6;B7Z452;P33121	.;.;ACSL1_HUMAN	M	225;396;2;396;362;225;396;396	ENSP00000407165:R225M;ENSP00000422607:R396M;ENSP00000425098:R2M;ENSP00000281455:R396M;ENSP00000426244:R362M;ENSP00000405687:R225M;ENSP00000425006:R396M;ENSP00000426150:R396M	ENSP00000281455:R396M	R	-	2	0	ACSL1	185924846	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.712000	0.84684	2.360000	0.80028	0.655000	0.94253	AGG		0.498	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		62	409	1	0	1.95512e-22	1	2.40814e-22	62	409				
DBNL	28988	broad.mit.edu	37	7	44099010	44099010	+	Missense_Mutation	SNP	G	G	T	rs530120610		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:44099010G>T	ENST00000448521.1	+	10	991	c.893G>T	c.(892-894)gGc>gTc	p.G298V	DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V|DBNL_ENST00000494774.1_Missense_Mutation_p.G299V|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000468694.1_Missense_Mutation_p.G307V	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	298					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCCACTTTGGCAGAGAGCCA	0.592																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(895-897)gGc>gTc		drebrin-like							40.0	42.0	41.0					7																	44099010		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44099010G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.893G>T	7.37:g.44099010G>T	ENSP00000411701:p.Gly298Val		Somatic				DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V	p.G299V	NM_014063.6	NP_054782.2	WXS	Illumina GAIIx	Phase_I	Q9UJU6	DBNL_HUMAN			10	917	+			298					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.896G>T	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.532181|2.532181	0.45073|0.45073	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	T;T;T;T;T;T;T|.	0.28895|.	1.99;2.3;2.3;2.29;1.59;2.01;2.33|.	5.56|5.56	-1.17|-1.17	0.09648|0.09648	Src homology-3 domain (1);|.	2.138900|.	0.01797|.	N|.	0.032674|.	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B;B;B;B|.	0.09022|.	0.001;0.001;0.001;0.002;0.002;0.002;0.001;0.0;0.002|.	B;B;B;B;B;B;B;B;B|.	0.11329|.	0.002;0.002;0.002;0.002;0.004;0.002;0.006;0.0;0.004|.	T|T	0.30736|0.30736	-0.9968|-0.9968	10|5	0.27082|.	T|.	0.32|.	-4.6731|-4.6731	7.1471|7.1471	0.25589|0.25589	0.077:0.3987:0.4268:0.0975|0.077:0.3987:0.4268:0.0975	.|.	195;247;228;250;204;274;307;298;299|.	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;.;.;.;.;DBNL_HUMAN;.|.	V|C	298;250;195;274;307;299;204;228|226	ENSP00000411701:G298V;ENSP00000416421:G250V;ENSP00000415173:G195V;ENSP00000405343:G274V;ENSP00000417653:G307V;ENSP00000419992:G299V;ENSP00000417749:G204V|.	ENSP00000415173:G195V|.	G|W	+|+	2|3	0|0	DBNL|DBNL	44065535|44065535	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.964000|0.964000	0.63967|0.63967	-0.836000|-0.836000	0.04382|0.04382	-0.206000|-0.206000	0.10203|0.10203	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.592	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		8	64	1	0	1.26484e-09	1	1.48546e-09	8	64				
JKAMP	51528	broad.mit.edu	37	14	59954452	59954452	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:59954452C>G	ENST00000261247.9	+	3	304	c.157C>G	c.(157-159)Cct>Gct	p.P53A	JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|JKAMP_ENST00000554271.1_Missense_Mutation_p.P67A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	68					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.P61A(1)|p.P63A(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACAGAATCTCCTGAACTTTA	0.373																																						ENST00000554271.1																			2	Substitution - Missense(2)	p.P61A(1)|p.P63A(1)	kidney(2)	breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(199-201)Cct>Gct		JNK1/MAPK8-associated membrane protein							285.0	271.0	275.0					14																	59954452		1869	4116	5985	SO:0001583	missense	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59954452C>G	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.157C>G	14.37:g.59954452C>G	ENSP00000261247:p.Pro53Ala		Somatic				JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A	p.P67A			WXS	Illumina GAIIx	Phase_I	Q9P055	JKAMP_HUMAN			3	725	+			68					B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	c.199C>G	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121821	0.77436	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.994	T	0.77822	-0.2445	9	0.38643	T	0.18	-41.9277	19.6128	0.95616	0.0:1.0:0.0:0.0	.	67;47;61;53	G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	.;.;.;.	A	53;47;53;67;61;61	.	ENSP00000261247:P53A	P	+	1	0	JKAMP	59024205	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.644000	0.83416	2.635000	0.89317	0.655000	0.94253	CCT		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		155	463	0	0	0	1	0	155	463				
TENM1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:123540242C>G	ENST00000371130.3	-	25	5122	c.5059G>C	c.(5059-5061)Gat>Cat	p.D1687H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1694H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1687					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D1689H(1)									TTGGAAGTATCTAGCTCCACT	0.458																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.D1689H(1)	kidney(1)								c.(5080-5082)Gat>Cat		teneurin transmembrane protein 1							212.0	190.0	197.0					X																	123540242		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123540242C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5059G>C	X.37:g.123540242C>G	ENSP00000360171:p.Asp1687His		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H|STAG2_ENST00000469481.1_Intron	p.D1694H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					26	5143	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5080G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735372	0.69189	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85629	-2.01;-1.97	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.285324	0.39407	N	0.001372	D	0.85252	0.5654	L	0.44542	1.39	0.45056	D	0.998072	D;P;D	0.57257	0.974;0.944;0.979	P;P;P	0.48114	0.533;0.496;0.567	D	0.86757	0.1964	10	0.62326	D	0.03	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	1693;1694;1687	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	1687;1694	ENSP00000360171:D1687H;ENSP00000403954:D1694H	ENSP00000360171:D1687H	D	-	1	0	ODZ1	123367923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.604000	0.61112	2.343000	0.79666	0.600000	0.82982	GAT		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	209	0	0	0	1	0	6	209				
C8orf34	116328	broad.mit.edu	37	8	69381029	69381029	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:69381029G>A	ENST00000539993.1	+	4	1001	c.452G>A	c.(451-453)gGg>gAg	p.G151E	C8orf34_ENST00000337103.4_Missense_Mutation_p.G126E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	151										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGAAGCTGGGGAAAGCCCTT	0.408																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(376-378)gGg>gAg		chromosome 8 open reading frame 34							84.0	78.0	80.0					8																	69381029		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69381029G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.452G>A	8.37:g.69381029G>A	ENSP00000438159:p.Gly151Glu		Somatic				C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E	p.G126E			WXS	Illumina GAIIx	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	1969	+			151					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	G	27.6	4.841660	0.91197	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54866	0.55;0.61;0.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.63428	1.95	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69217	-0.5203	9	.	.	.	-17.6163	19.4131	0.94683	0.0:0.0:1.0:0.0	.	151;151	Q49A92;Q49A92-3	CH034_HUMAN;.	E	237;151;151;126	ENSP00000427820:G237E;ENSP00000438159:G151E;ENSP00000337174:G126E	.	G	+	2	0	C8orf34	69543583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.588000	0.87417	0.591000	0.81541	GGG		0.408	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		6	124	0	0	0	1	0	6	124				
ABCB11	8647	broad.mit.edu	37	2	169801269	169801269	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:169801269G>A	ENST00000263817.6	-	21	2580	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTAGCAAAGGCATATCCCTA	0.363																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2455-2457)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						76.0	69.0	71.0					2																	169801269		1820	4081	5901	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801269G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2456C>T	2.37:g.169801269G>A	ENSP00000263817:p.Ala819Val		Somatic					p.A819V	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			21	2580	-			819			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2456C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189099	0.57909	.	.	ENSG00000073734	ENST00000263817	D	0.89415	-2.51	5.96	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.303456	0.40302	N	0.001140	D	0.88596	0.6479	L	0.60455	1.87	0.37590	D	0.920159	B;B	0.27166	0.083;0.17	B;B	0.37198	0.122;0.243	D	0.86632	0.1886	10	0.25751	T	0.34	.	15.2664	0.73666	0.0:0.0:0.7452:0.2548	.	261;819	B4DZQ8;O95342	.;ABCBB_HUMAN	V	819	ENSP00000263817:A819V	ENSP00000263817:A819V	A	-	2	0	ABCB11	169509515	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	4.941000	0.63540	1.456000	0.47831	0.650000	0.86243	GCC		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		4	178	0	0	0	1	0	4	178				
CYP4A11	1579	broad.mit.edu	37	1	47403749	47403749	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:47403749A>G	ENST00000310638.4	-	2	287	c.256T>C	c.(256-258)Tgt>Cgt	p.C86R	CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.C86R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	86					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.C86R(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAATGAGGACAGGCACTTGGG	0.493																																						ENST00000310638.4																			1	Substitution - Missense(1)	p.C86R(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(256-258)Tgt>Cgt		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						226.0	178.0	194.0					1																	47403749		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47403749A>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.256T>C	1.37:g.47403749A>G	ENSP00000311095:p.Cys86Arg		Somatic				CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R	p.C86R	NM_000778.3	NP_000769.2	WXS	Illumina GAIIx	Phase_I	Q02928	CP4AB_HUMAN			2	287	-			86					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.256T>C	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	13.38	2.219360	0.39201	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68181	-0.31;-0.31;-0.31	5.51	0.264	0.15607	.	0.677681	0.14912	N	0.291154	T	0.61035	0.2315	L	0.48174	1.505	0.18873	N	0.999983	P	0.41102	0.738	P	0.47891	0.56	T	0.52260	-0.8599	10	0.48119	T	0.1	.	4.5053	0.11885	0.6165:0.0:0.1415:0.242	.	86	Q02928	CP4AB_HUMAN	R	86	ENSP00000311095:C86R;ENSP00000360971:C86R;ENSP00000360972:C86R	ENSP00000311095:C86R	C	-	1	0	CYP4A11	47176336	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	-0.110000	0.10824	0.039000	0.15632	-0.394000	0.06481	TGT		0.493	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		44	283	0	0	0	1	0	44	283				
RDH16	8608	broad.mit.edu	37	12	57351183	57351183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:57351183G>A	ENST00000398138.3	-	1	920	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	22					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTCAGCACCTGCCTCTCCCGG	0.587																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(64-66)Cag>Tag		retinol dehydrogenase 16 (all-trans)							81.0	88.0	86.0					12																	57351183		2203	4300	6503	SO:0001587	stop_gained	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57351183G>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.64C>T	12.37:g.57351183G>A	ENSP00000381206:p.Gln22*		Somatic				RDH16_ENST00000360752.4_5'UTR	p.Q22*	NM_003708.3	NP_003699.3	WXS	Illumina GAIIx	Phase_I	O75452	RDH16_HUMAN			1	920	-			22					Q9UNV2	Nonsense_Mutation	SNP	ENST00000398138.3	37	c.64C>T	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	G	41	8.617760	0.98888	.	.	ENSG00000139547	ENST00000398138	.	.	.	4.72	2.84	0.33178	.	0.218384	0.31199	N	0.008080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.6095	0.33793	0.0:0.1482:0.5461:0.3057	.	.	.	.	X	22	.	ENSP00000381206:Q22X	Q	-	1	0	RDH16	55637450	0.822000	0.29219	0.995000	0.50966	0.467000	0.32768	1.458000	0.35223	0.562000	0.29204	0.655000	0.94253	CAG		0.587	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		7	215	0	0	0	1	0	7	215				
USP34	9736	broad.mit.edu	37	2	61546362	61546362	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:61546362A>T	ENST00000398571.2	-	22	3190	c.3114T>A	c.(3112-3114)agT>agA	p.S1038R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1038					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)			GTTGATCTTTACTTCGAACTT	0.338																																						ENST00000398571.2																			0				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						c.(3112-3114)agT>agA		ubiquitin specific peptidase 34							130.0	120.0	123.0					2																	61546362		1862	4091	5953	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61546362A>T	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	ENST00000398571.2:c.3114T>A	2.37:g.61546362A>T	ENSP00000381577:p.Ser1038Arg		Somatic					p.S1038R	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		22	3190	-			1038					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3114T>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095289	0.76870	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03801	3.8	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.53249	1.67	0.54753	D	0.999987	D	0.61697	0.99	D	0.69142	0.962	T	0.00260	-1.1869	10	0.62326	D	0.03	.	10.4438	0.44481	0.9275:0.0:0.0725:0.0	.	1038	Q70CQ2	UBP34_HUMAN	R	886;886;1038	ENSP00000381577:S1038R	ENSP00000263989:S886R	S	-	3	2	USP34	61399866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.631000	0.54280	2.210000	0.71456	0.482000	0.46254	AGT		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	94	0	0	0	1	0	4	94				
PCDHGC5	56097	broad.mit.edu	37	5	140869551	140869551	+	Silent	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140869551T>A	ENST00000252087.1	+	1	744	c.744T>A	c.(742-744)cgT>cgA	p.R248R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R248R(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACGTGTGGGAATCC	0.542																																						ENST00000252087.1																			2	Substitution - coding silent(2)	p.R248R(2)	kidney(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(742-744)cgT>cgA									174.0	177.0	176.0					5																	140869551		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869551T>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.744T>A	5.37:g.140869551T>A			Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.R248R	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	744	+			248			Cadherin 3.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.744T>A	CCDS4263.1																																																																																				0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		149	304	0	0	0	1	0	149	304				
ASL	435	broad.mit.edu	37	7	65557820	65557820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:65557820C>T	ENST00000304874.9	+	17	1418	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	ASL_ENST00000395331.3_Missense_Mutation_p.A419V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.A439V|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000380839.4_Missense_Mutation_p.A413V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	439					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTATGGTGCCCTGGGCGGC	0.692																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1315-1317)gCc>gTc		argininosuccinate lyase	L-Arginine(DB00125)						66.0	65.0	65.0					7																	65557820		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557820C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1316C>T	7.37:g.65557820C>T	ENSP00000307188:p.Ala439Val		Somatic				ASL_ENST00000395332.3_Missense_Mutation_p.A439V|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.A413V	p.A439V	NM_000048.3	NP_000039.2	WXS	Illumina GAIIx	Phase_I	P04424	ARLY_HUMAN			17	1418	+			439					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1316C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.609739	0.46527	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	5.58	5.58	0.84498	L-Aspartase-like (1);	0.051633	0.85682	D	0.000000	D	0.95887	0.8661	N	0.16233	0.39	0.80722	D	1	B;B;B	0.23058	0.058;0.065;0.079	B;B;B	0.20767	0.031;0.011;0.01	D	0.93824	0.7121	10	0.02654	T	1	.	18.5532	0.91073	0.0:1.0:0.0:0.0	.	413;419;439	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	V	439;413;439;419	ENSP00000307188:A439V;ENSP00000370219:A413V;ENSP00000378741:A439V;ENSP00000378740:A419V	ENSP00000307188:A439V	A	+	2	0	ASL	65195255	1.000000	0.71417	0.539000	0.28077	0.215000	0.24574	6.667000	0.74451	2.622000	0.88805	0.491000	0.48974	GCC		0.692	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	409	0	0	0	1	0	5	409				
ZSWIM4	65249	broad.mit.edu	37	19	13941432	13941432	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:13941432C>T	ENST00000254323.2	+	13	2727	c.2538C>T	c.(2536-2538)gaC>gaT	p.D846D	ZSWIM4_ENST00000440752.2_Silent_p.D680D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	846							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGTCAACGACGTGCTTTGGG	0.667																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2536-2538)gaC>gaT		zinc finger, SWIM-type containing 4							104.0	97.0	99.0					19																	13941432		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941432C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2538C>T	19.37:g.13941432C>T			Somatic				ZSWIM4_ENST00000440752.2_Silent_p.D680D	p.D846D	NM_023072.2	NP_075560.2	WXS	Illumina GAIIx	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2727	+			846						Silent	SNP	ENST00000254323.2	37	c.2538C>T	CCDS32924.1																																																																																				0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		7	314	0	0	0	1	0	7	314				
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	T	rs140917604		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:11292739C>T	ENST00000227756.4	-	11	2187	c.1776G>A	c.(1774-1776)tcG>tcA	p.S592S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	592	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGTGCTGGCCCGAGCACTTCT	0.617																																						ENST00000227756.4																			0											c.(1774-1776)tcG>tcA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18				0,4402		0,0,2201	83.0	76.0	78.0		1776	-5.0	1.0	11	dbSNP_134	78	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	GALNTL4	NM_198516.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		592/608	11292739	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374378							g.chr11:11292739C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1776G>A	11.37:g.11292739C>T			Somatic					p.S592S	NM_198516.2	NP_940918.2	WXS	Illumina GAIIx	Phase_I					11	2187	-								O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1776G>A	CCDS7807.1																																																																																				0.617	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		7	485	0	0	0	1	0	7	485				
PRKAG1	5571	broad.mit.edu	37	12	49397067	49397067	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49397067C>T	ENST00000548065.1	-	11	1204	c.748G>A	c.(748-750)Gca>Aca	p.A250T	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	250	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TTTTCTGCTGCCAGATTCTGG	0.493																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(748-750)Gca>Aca		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							265.0	263.0	263.0					12																	49397067		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49397067C>T	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.748G>A	12.37:g.49397067C>T	ENSP00000447433:p.Ala250Thr		Somatic				RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000552933.1_RNA	p.A250T			WXS	Illumina GAIIx	Phase_I	P54619	AAKG1_HUMAN			11	1204	-			250			CBS 3.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.748G>A	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031038	0.75504	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.06	5.06	0.68205	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.84773	2.715	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.975	D	0.96680	0.9503	10	0.72032	D	0.01	-2.8626	17.3722	0.87381	0.0:1.0:0.0:0.0	.	259;250	Q8N7V9;P54619	.;AAKG1_HUMAN	T	15;166;199;259;250;218;170;144	ENSP00000446987:A15T;ENSP00000378599:A166T;ENSP00000448873:A199T;ENSP00000323867:A259T;ENSP00000447433:A250T;ENSP00000448972:A218T;ENSP00000449121:A170T;ENSP00000447671:A144T	ENSP00000323867:A259T	A	-	1	0	PRKAG1	47683334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.639000	0.89480	0.655000	0.94253	GCA		0.493	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		6	899	0	0	0	1	0	6	899				
MICU1	10367	broad.mit.edu	37	10	74128087	74128087	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:74128087A>G	ENST00000361114.5	-	12	1393	c.1297T>C	c.(1297-1299)Ttt>Ctt	p.F433L	MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L|MICU1_ENST00000398761.4_Missense_Mutation_p.F435L|MICU1_ENST00000398763.4_Missense_Mutation_p.F235L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	433	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.F435L(1)									ATGGAAACAAATTCCTTATTG	0.473																																						ENST00000398761.4																			1	Substitution - Missense(1)	p.F435L(1)	kidney(1)								c.(1303-1305)Ttt>Ctt		mitochondrial calcium uptake 1							94.0	89.0	90.0					10																	74128087		1947	4141	6088	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74128087A>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1297T>C	10.37:g.74128087A>G	ENSP00000354415:p.Phe433Leu		Somatic				MICU1_ENST00000398763.4_Missense_Mutation_p.F235L|MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L	p.F435L			WXS	Illumina GAIIx	Phase_I	Q9BPX6	MICU1_HUMAN			14	1435	-			433			EF-hand 2.		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1303T>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	A	35	5.590525	0.96590	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.83223	2.63	0.80722	D	1	D;D;D	0.59357	0.983;0.983;0.985	D;D;P	0.63877	0.919;0.919;0.831	D	0.95805	0.8836	10	0.51188	T	0.08	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	235;235;433	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	L	433;435;433;235;235	ENSP00000354415:F433L;ENSP00000381745:F435L;ENSP00000384068:F433L;ENSP00000402470:F235L;ENSP00000381747:F235L	ENSP00000354415:F433L	F	-	1	0	MICU1	73798093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.307000	0.96226	2.257000	0.74773	0.533000	0.62120	TTT		0.473	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		26	155	0	0	0	1	0	26	155				
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1645-1647)gCc>gTc		IQ motif containing B1							181.0	174.0	176.0					3																	121489343		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489343G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1646C>T	3.37:g.121489343G>A	ENSP00000311505:p.Ala549Val		Somatic				IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	p.A549V	NM_001023570.2	NP_001018864.2	WXS	Illumina GAIIx	Phase_I	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1860	-			549					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1646C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC		0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		5	474	0	0	0	1	0	5	474				
ADAM20	8748	broad.mit.edu	37	14	70989907	70989907	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:70989907G>A	ENST00000256389.3	-	2	1962	c.1718C>T	c.(1717-1719)gCa>gTa	p.A573V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	523	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCACTCCTTGCATCTTGGCC	0.418																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1717-1719)gCa>gTa		ADAM metallopeptidase domain 20							202.0	148.0	167.0					14																	70989907		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989907G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1718C>T	14.37:g.70989907G>A	ENSP00000256389:p.Ala573Val		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA	p.A573V	NM_003814.4	NP_003805.3	WXS	Illumina GAIIx	Phase_I	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1962	-			523			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1718C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828901	0.71258	.	.	ENSG00000134007	ENST00000256389	T	0.26660	1.72	4.66	4.66	0.58398	ADAM, cysteine-rich (2);	0.191574	0.24523	N	0.037797	T	0.49745	0.1575	M	0.69358	2.11	0.28968	N	0.889392	D	0.76494	0.999	D	0.78314	0.991	T	0.48969	-0.8987	10	0.87932	D	0	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	523	O43506	ADA20_HUMAN	V	573	ENSP00000256389:A573V	ENSP00000256389:A573V	A	-	2	0	ADAM20	70059660	0.995000	0.38212	0.947000	0.38551	0.529000	0.34654	6.351000	0.73022	2.284000	0.76573	0.557000	0.71058	GCA		0.418	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			9	909	0	0	0	1	0	9	909				
DIO1	1733	broad.mit.edu	37	1	54360160	54360160	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:54360160C>T	ENST00000361921.3	+	1	301	c.277C>T	c.(277-279)Cca>Tca	p.P93S	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S|DIO1_ENST00000525202.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGGTCTGGCCCCAAACTGCCC	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(277-279)Cca>Tca		deiodinase, iodothyronine, type I							51.0	45.0	47.0					1																	54360160		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360160C>T		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.277C>T	1.37:g.54360160C>T	ENSP00000354643:p.Pro93Ser		Somatic				DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR	p.P93S	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	301	+			93					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.277C>T	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493542	0.64186	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.79	4.79	0.61399	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.84326	2.69	0.44085	D	0.996845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.77950	-0.2395	10	0.56958	D	0.05	.	16.198	0.82043	0.0:1.0:0.0:0.0	.	93;93;93	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	S	50;93;93;93;93	ENSP00000432797:P50S;ENSP00000354643:P93S;ENSP00000323198:P93S;ENSP00000434758:P93S;ENSP00000373528:P93S	ENSP00000323198:P93S	P	+	1	0	DIO1	54132748	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	4.312000	0.59154	2.492000	0.84095	0.561000	0.74099	CCA		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			26	192	0	0	0	1	0	26	192				
GALNT2	2590	broad.mit.edu	37	1	230381811	230381811	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:230381811C>T	ENST00000366672.4	+	8	804	c.732C>T	c.(730-732)gaC>gaT	p.D244D	GALNT2_ENST00000541865.1_Silent_p.D154D|GALNT2_ENST00000543760.1_Silent_p.D206D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	244					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TATTTTAGGACAGGACTCGGG	0.458																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(730-732)gaC>gaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							145.0	139.0	141.0					1																	230381811		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230381811C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.732C>T	1.37:g.230381811C>T			Somatic				GALNT2_ENST00000541865.1_Silent_p.D154D|GALNT2_ENST00000543760.1_Silent_p.D206D	p.D244D	NM_004481.3	NP_004472.1	WXS	Illumina GAIIx	Phase_I	Q10471	GALT2_HUMAN			8	804	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	244					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.732C>T	CCDS1582.1																																																																																				0.458	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		7	279	0	0	0	1	0	7	279				
C1QTNF7	114905	broad.mit.edu	37	4	15444098	15444098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:15444098C>T	ENST00000444304.2	+	3	871	c.545C>T	c.(544-546)aCa>aTa	p.T182I	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.T189I|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	182	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AACCCTGCCACAGGGAAGTTC	0.443																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(565-567)aCa>aTa		C1q and tumor necrosis factor related protein 7							155.0	169.0	165.0					4																	15444098		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444098C>T	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.545C>T	4.37:g.15444098C>T	ENSP00000388914:p.Thr182Ile		Somatic				C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I	p.T189I	NM_001135170.1	NP_001128642.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ2	C1QT7_HUMAN			3	825	+			182			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.566C>T	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565856	0.45694	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.79352	-1.26;-1.26;-1.26	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.103815	0.64402	D	0.000003	T	0.79112	0.4391	M	0.87971	2.92	0.51767	D	0.999931	P	0.38048	0.616	B	0.38056	0.264	T	0.80044	-0.1547	9	.	.	.	.	9.0973	0.36647	0.1476:0.7798:0.0:0.0726	.	182	Q9BXJ2	C1QT7_HUMAN	I	189;182;182	ENSP00000295297:T189I;ENSP00000410722:T182I;ENSP00000388914:T182I	.	T	+	2	0	C1QTNF7	15053196	0.998000	0.40836	0.130000	0.21974	0.873000	0.50193	3.922000	0.56462	2.748000	0.94277	0.655000	0.94253	ACA		0.443	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			5	685	0	0	0	1	0	5	685				
DTX3	196403	broad.mit.edu	37	12	58002934	58002934	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:58002934G>A	ENST00000548198.1	+	5	2547	c.1043G>A	c.(1042-1044)tGa>tAa	p.*348*	DTX3_ENST00000551632.1_Silent_p.*351*|ARHGEF25_ENST00000333972.7_5'Flank|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000548804.1_Silent_p.*348*|DTX3_ENST00000337737.3_Silent_p.*348*|AC025165.8_ENST00000356672.3_RNA			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	0					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGATGACTGAAGGACATCG	0.592																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(1042-1044)tGa>tAa		deltex homolog 3 (Drosophila)							107.0	109.0	108.0					12																	58002934		1991	4168	6159	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002934G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.1043G>A	12.37:g.58002934G>A			Somatic				DTX3_ENST00000548804.1_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000337737.3_Silent_p.*348*	p.*348*			WXS	Illumina GAIIx	Phase_I	Q8N9I9	DTX3_HUMAN			5	2547	+	Melanoma(17;0.122)		0					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.1043G>A	CCDS41800.1																																																																																				0.592	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		11	134	0	0	0	1	0	11	134				
CNBP	7555	broad.mit.edu	37	3	128889301	128889301	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:128889301C>T	ENST00000422453.2	-	5	689	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	CNBP_ENST00000446936.2_Missense_Mutation_p.A172T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000451728.2_Missense_Mutation_p.A178T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	177					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AATAATTAGGCTGTAGCCTCA	0.468																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(529-531)Gcc>Acc		CCHC-type zinc finger, nucleic acid binding protein							144.0	138.0	140.0					3																	128889301		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889301C>T	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.529G>A	3.37:g.128889301C>T	ENSP00000410619:p.Ala177Thr		Somatic				CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T	p.A177T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	WXS	Illumina GAIIx	Phase_I	P62633	CNBP_HUMAN			5	689	-			177					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.529G>A	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712546	0.68730	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32653	0.379;0.275;0.219	B;B;B	0.26517	0.07;0.067;0.066	T	0.62388	-0.6865	9	0.87932	D	0	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	160;170;177	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	T	170;177;178;172;160;167;179	.	ENSP00000410619:A177T	A	-	1	0	CNBP	130371991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.894000	0.99253	0.591000	0.81541	GCC		0.468	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		7	472	0	0	0	1	0	7	472				
COL6A3	1293	broad.mit.edu	37	2	238274619	238274619	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:238274619C>T	ENST00000295550.4	-	12	6012	c.5560G>A	c.(5560-5562)Gcc>Acc	p.A1854T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1854	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTTCTGGGCCACAAAAACA	0.547																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5560-5562)Gcc>Acc		collagen, type VI, alpha 3							73.0	74.0	74.0					2																	238274619		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274619C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5560G>A	2.37:g.238274619C>T	ENSP00000295550:p.Ala1854Thr		Somatic				COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T	p.A1854T	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6012	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1854			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5560G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365666	0.24684	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88431	-2.38;-2.37;-2.35;-2.35;-2.35;-2.34	4.92	-4.18	0.03846	von Willebrand factor, type A (2);	1.218940	0.05991	N	0.646025	T	0.80607	0.4655	L	0.47716	1.5	0.09310	N	1	P;B;B	0.36144	0.539;0.256;0.001	B;B;B	0.26416	0.057;0.069;0.002	T	0.67284	-0.5709	10	0.32370	T	0.25	.	7.76	0.28946	0.121:0.414:0.0:0.465	.	1247;1648;1854	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1854;1653;1648;1247;1648;1654	ENSP00000295550:A1854T;ENSP00000315609:A1653T;ENSP00000315873:A1648T;ENSP00000418285:A1247T;ENSP00000386844:A1648T;ENSP00000295546:A1654T	ENSP00000295550:A1854T	A	-	1	0	COL6A3	237939358	0.000000	0.05858	0.205000	0.23548	0.694000	0.40290	-0.078000	0.11375	-0.586000	0.05898	0.655000	0.94253	GCC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	146	0	0	0	1	0	4	146				
BIRC8	112401	broad.mit.edu	37	19	53793248	53793248	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:53793248T>C	ENST00000426466.1	-	1	1627	c.380A>G	c.(379-381)gAc>gGc	p.D127G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	127					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTTCTTAACGTCCTTGAAATC	0.383																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(379-381)gAc>gGc		baculoviral IAP repeat containing 8							170.0	167.0	168.0					19																	53793248		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793248T>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.380A>G	19.37:g.53793248T>C	ENSP00000412957:p.Asp127Gly		Somatic					p.D127G	NM_033341.4	NP_203127.3	WXS	Illumina GAIIx	Phase_I	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1627	-			127					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.380A>G	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	T	6.121	0.390588	0.11581	.	.	ENSG00000163098	ENST00000426466	T	0.35973	1.28	0.502	0.502	0.16932	.	.	.	.	.	T	0.28101	0.0693	M	0.68317	2.08	0.09310	N	1	P	0.40000	0.698	B	0.32211	0.142	T	0.14448	-1.0472	9	0.36615	T	0.2	-14.7687	5.4107	0.16346	0.0:1.0E-4:0.0:0.9999	.	127	Q96P09	BIRC8_HUMAN	G	127	ENSP00000412957:D127G	ENSP00000412957:D127G	D	-	2	0	BIRC8	58485060	0.120000	0.22244	0.007000	0.13788	0.003000	0.03518	1.796000	0.38794	0.486000	0.27676	0.344000	0.21773	GAC		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		4	212	0	0	0	1	0	4	212				
JAKMIP2	9832	broad.mit.edu	37	5	147009293	147009293	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:147009293T>G	ENST00000265272.5	-	15	2359	c.1892A>C	c.(1891-1893)gAt>gCt	p.D631A	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	631						Golgi apparatus (GO:0005794)		p.D631A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGAGATCAGGGATGTT	0.383																																						ENST00000265272.5																			1	Substitution - Missense(1)	p.D631A(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1891-1893)gAt>gCt		janus kinase and microtubule interacting protein 2							133.0	123.0	126.0					5																	147009293		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147009293T>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1892A>C	5.37:g.147009293T>G	ENSP00000265272:p.Asp631Ala		Somatic				JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A	p.D631A	NM_014790.3	NP_055605.2	WXS	Illumina GAIIx	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2359	-			631					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1892A>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476527	0.84640	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.26373	1.74;1.75;1.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.23833	-1.0177	10	0.09590	T	0.72	.	16.2092	0.82147	0.0:0.0:0.0:1.0	.	589;631;610;631	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	A	610;631;589;610	ENSP00000421398:D610A;ENSP00000265272:D631A;ENSP00000328989:D589A	ENSP00000265272:D631A	D	-	2	0	JAKMIP2	146989486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.840000	0.75369	2.371000	0.80710	0.533000	0.62120	GAT		0.383	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		14	60	0	0	0	1	0	14	60				
S100PBP	64766	broad.mit.edu	37	1	33318709	33318709	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:33318709G>A	ENST00000373475.5	+	6	1308	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTTGATGGATCAAGTTCA	0.488																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(1054-1056)Gat>Aat		S100P binding protein							163.0	143.0	150.0					1																	33318709		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33318709G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.1054G>A	1.37:g.33318709G>A	ENSP00000362574:p.Asp352Asn		Somatic				S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	p.D352N	NM_022753.3	NP_073590.2	WXS	Illumina GAIIx	Phase_I	Q96BU1	S1PBP_HUMAN			6	1308	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	352						Missense_Mutation	SNP	ENST00000373475.5	37	c.1054G>A	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983150	0.53827	.	.	ENSG00000116497	ENST00000373476;ENST00000373475	.	.	.	4.79	3.88	0.44766	.	0.269977	0.34362	N	0.004034	T	0.44095	0.1277	L	0.35723	1.085	0.80722	D	1	B	0.19073	0.033	B	0.22601	0.04	T	0.30707	-0.9969	9	0.24483	T	0.36	-2.7593	9.1033	0.36683	0.0966:0.0:0.9034:0.0	.	352	Q96BU1	S1PBP_HUMAN	N	352	.	ENSP00000362574:D352N	D	+	1	0	S100PBP	33091296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.985000	0.29578	1.635000	0.50512	0.655000	0.94253	GAT		0.488	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		6	560	0	0	0	1	0	6	560				
FAM208B	54906	broad.mit.edu	37	10	5790396	5790396	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:5790396T>G	ENST00000328090.5	+	15	5637	c.5012T>G	c.(5011-5013)gTa>gGa	p.V1671G		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1671								p.V1671G(1)									ACCCATTATGTAAGACCAATA	0.468																																						ENST00000328090.5																			1	Substitution - Missense(1)	p.V1671G(1)	kidney(1)								c.(5011-5013)gTa>gGa		family with sequence similarity 208, member B							65.0	66.0	66.0					10																	5790396		2146	4263	6409	SO:0001583	missense	54906							g.chr10:5790396T>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5012T>G	10.37:g.5790396T>G	ENSP00000328426:p.Val1671Gly		Somatic					p.V1671G	NM_017782.4	NP_060252.4	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			15	5637	+			1671					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5012T>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525554	0.27299	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04454	3.62	4.5	3.57	0.40892	.	1.523810	0.04173	N	0.325053	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.38112	-0.9676	10	0.54805	T	0.06	.	7.7675	0.28988	0.0:0.8712:0.0:0.1288	.	1671	Q5VWN6	F208B_HUMAN	G	1671;866	ENSP00000328426:V1671G	ENSP00000328426:V1671G	V	+	2	0	C10orf18	5830402	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.112000	0.15479	0.806000	0.34183	0.460000	0.39030	GTA		0.468	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		8	76	0	0	0	1	0	8	76				
VAPB	9217	broad.mit.edu	37	20	57015985	57015985	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:57015985T>C	ENST00000475243.1	+	5	757	c.419T>C	c.(418-420)aTt>aCt	p.I140T	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)	p.I140T(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ATAAATAAAATTATATCCACA	0.338																																						ENST00000475243.1																			1	Substitution - Missense(1)	p.I140T(1)	kidney(1)	kidney(2)|lung(3)|prostate(1)	6						c.(418-420)aTt>aCt		VAMP (vesicle-associated membrane protein)-associated protein B and C							33.0	34.0	34.0					20																	57015985		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57015985T>C	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.419T>C	20.37:g.57015985T>C	ENSP00000417175:p.Ile140Thr		Somatic				VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	p.I140T	NM_004738.4	NP_004729.1	WXS	Illumina GAIIx	Phase_I	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		5	757	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		140					A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.419T>C	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879388	0.33162	.	.	ENSG00000124164	ENST00000475243	T	0.28454	1.61	5.66	5.66	0.87406	.	0.212230	0.48767	D	0.000168	T	0.31638	0.0803	L	0.60455	1.87	0.80722	D	1	P;B	0.39480	0.675;0.011	B;B	0.39258	0.295;0.005	T	0.07520	-1.0768	10	0.13108	T	0.6	-13.7154	15.9043	0.79412	0.0:0.0:0.0:1.0	.	17;140	B4DNS4;O95292	.;VAPB_HUMAN	T	140	ENSP00000417175:I140T	ENSP00000417175:I140T	I	+	2	0	VAPB	56449391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.160000	0.67779	0.528000	0.53228	ATT		0.338	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			78	155	0	0	0	1	0	78	155				
ZNF292	23036	broad.mit.edu	37	6	87966445	87966445	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:87966445T>A	ENST00000369577.3	+	8	3141	c.3098T>A	c.(3097-3099)gTg>gAg	p.V1033E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V1033E(1)|p.V888E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTTTCTGTGCAAAATCAG	0.323																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.V1033E(1)|p.V888E(1)	kidney(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3097-3099)gTg>gAg		zinc finger protein 292							57.0	55.0	56.0					6																	87966445		1846	4085	5931	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966445T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3098T>A	6.37:g.87966445T>A	ENSP00000358590:p.Val1033Glu		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	p.V1033E	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3141	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1033					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3098T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425483	0.43020	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.55	5.55	0.83447	.	0.727297	0.12908	N	0.429186	T	0.03178	0.0093	L	0.29908	0.895	0.27667	N	0.946898	B	0.27068	0.167	B	0.31016	0.123	T	0.36359	-0.9751	10	0.66056	D	0.02	.	10.0915	0.42449	0.0:0.075:0.0:0.925	.	1033	O60281	ZN292_HUMAN	E	1033;1028	ENSP00000358590:V1033E;ENSP00000342847:V1028E	ENSP00000342847:V1028E	V	+	2	0	ZNF292	88023164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.282000	0.51693	2.111000	0.64477	0.482000	0.46254	GTG		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		14	87	0	0	0	1	0	14	87				
STAT2	6773	broad.mit.edu	37	12	56737274	56737274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56737274C>T	ENST00000314128.4	-	24	2478	c.2455G>A	c.(2455-2457)Ggt>Agt	p.G819S	STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	819					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						AGTGGGTCACCATTCGGCATG	0.502																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(2455-2457)Ggt>Agt		signal transducer and activator of transcription 2, 113kDa							131.0	98.0	109.0					12																	56737274		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56737274C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2455G>A	12.37:g.56737274C>T	ENSP00000315768:p.Gly819Ser		Somatic				STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR	p.G819S			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			24	2478	-			819					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.2455G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328453	0.95733	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	T;T	0.56444	0.46;0.46	4.36	4.36	0.52297	Signal transducer and activation of transcription 2, C-terminal (1);	0.429701	0.22107	N	0.064528	T	0.53722	0.1814	L	0.32530	0.975	0.58432	D	0.999995	D;D	0.69078	0.996;0.997	P;P	0.61397	0.821;0.888	T	0.34054	-0.9844	10	0.11485	T	0.65	-6.0141	12.6968	0.57008	0.0:1.0:0.0:0.0	.	815;819	G3V2M6;P52630	.;STAT2_HUMAN	S	819;815	ENSP00000315768:G819S;ENSP00000450751:G815S	ENSP00000315768:G819S	G	-	1	0	STAT2	55023541	0.067000	0.21026	0.133000	0.22050	0.911000	0.54048	3.239000	0.51360	2.715000	0.92844	0.655000	0.94253	GGT		0.502	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		39	169	0	0	0	1	0	39	169				
PSMD6	9861	broad.mit.edu	37	3	64007994	64007994	+	Splice_Site	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:64007994T>G	ENST00000295901.4	-	2	491	c.351A>C	c.(349-351)aaA>aaC	p.K117N	RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000482510.1_Splice_Site_p.K78N|PSMD6_ENST00000492933.1_Splice_Site_p.K170N|PSMD6_ENST00000394431.2_Splice_Site_p.K79N	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of 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 polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.K117N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CTCTACTCACTTTGTCACCTA	0.423																																						ENST00000492933.1																			1	Substitution - Missense(1)	p.K117N(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13						c.e3+1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 6							109.0	107.0	108.0					3																	64007994		2203	4300	6503	SO:0001630	splice_region_variant	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64007994T>G	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.351+1A>C	3.37:g.64007994T>G			Somatic				PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice	p.K170_splice	NM_001271779.1	NP_001258708.1	WXS	Illumina GAIIx	Phase_I	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	3	562	-		Lung NSC(201;0.136)	117					A8K2E0|E9PHI9|Q6UV22	Splice_Site	SNP	ENST00000295901.4	37	c.510_splice	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781606	0.90282	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.19	4.31	0.51392	.	0.086995	0.85682	D	0.000000	D	0.89157	0.6635	H	0.94734	3.575	0.80722	D	1	D;D;D;P	0.63880	0.993;0.962;0.988;0.951	D;P;D;D	0.76071	0.987;0.908;0.974;0.955	D	0.91680	0.5357	9	.	.	.	.	13.0829	0.59123	0.0:0.9215:0.0:0.0785	.	79;78;170;117	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	N	117;170;79;78;131;138	ENSP00000295901:K117N;ENSP00000418695:K170N;ENSP00000377952:K79N;ENSP00000419227:K78N;ENSP00000418887:K131N	.	K	-	3	2	PSMD6	63983034	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.855000	0.69510	1.399000	0.46721	-0.242000	0.12053	AAA		0.423	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	Missense_Mutation	90	219	0	0	0	1	0	90	219				
ISL1	3670	broad.mit.edu	37	5	50680408	50680408	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:50680408G>A	ENST00000230658.7	+	2	647	c.62G>A	c.(61-63)gGc>gAc	p.G21D	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	21	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTTGGTTGCGGCAATCAGATT	0.393																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(61-63)gGc>gAc		ISL LIM homeobox 1							138.0	128.0	131.0					5																	50680408		1853	4100	5953	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680408G>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.62G>A	5.37:g.50680408G>A	ENSP00000230658:p.Gly21Asp		Somatic				ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	p.G21D	NM_002202.2	NP_002193.2	WXS	Illumina GAIIx	Phase_I	P61371	ISL1_HUMAN			2	647	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	21			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.62G>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438501	0.83885	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87103	-2.21;-2.21	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93108	0.6514	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	21	P61371	ISL1_HUMAN	D	21	ENSP00000230658:G21D;ENSP00000422676:G21D	ENSP00000230658:G21D	G	+	2	0	ISL1	50716165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	GGC		0.393	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		4	315	0	0	0	1	0	4	315				
IBTK	25998	broad.mit.edu	37	6	82933226	82933226	+	Missense_Mutation	SNP	G	G	T	rs540604023		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:82933226G>T	ENST00000306270.7	-	8	1604	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K	IBTK_ENST00000503631.1_Missense_Mutation_p.T352K|IBTK_ENST00000510291.1_Missense_Mutation_p.T352K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	352					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACAGACTGTAGCTCCATC	0.428																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1054-1056)aCa>aAa		inhibitor of Bruton agammaglobulinemia tyrosine kinase							113.0	103.0	106.0					6																	82933226		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82933226G>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1055C>A	6.37:g.82933226G>T	ENSP00000305721:p.Thr352Lys		Somatic				IBTK_ENST00000503631.1_Missense_Mutation_p.T352K|IBTK_ENST00000510291.1_Missense_Mutation_p.T352K	p.T352K	NM_015525.2	NP_056340.2	WXS	Illumina GAIIx	Phase_I	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	8	1604	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	352					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1055C>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084523	0.94100	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.83250	-1.7;-1.7;-1.7	5.76	5.76	0.90799	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.999	D	0.91007	0.4847	10	0.87932	D	0	-13.5756	19.9553	0.97216	0.0:0.0:1.0:0.0	.	352;352;352;352	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	352	ENSP00000305721:T352K;ENSP00000422762:T352K;ENSP00000426405:T352K	ENSP00000305721:T352K	T	-	2	0	IBTK	82989945	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.428000	0.97476	2.723000	0.93209	0.467000	0.42956	ACA		0.428	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		5	82	1	0	1.23904e-05	1	1.36768e-05	5	82				
NSDHL	50814	broad.mit.edu	37	X	152037392	152037392	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:152037392G>A	ENST00000370274.3	+	8	1048	c.854G>A	c.(853-855)gGc>gAc	p.G285D	NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	285					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTGACAGGCCTCAATTAT	0.532																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(853-855)gGc>gAc		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						168.0	152.0	157.0					X																	152037392		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037392G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.854G>A	X.37:g.152037392G>A	ENSP00000359297:p.Gly285Asp		Somatic				NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	p.G285D	NM_015922.2	NP_057006.1	WXS	Illumina GAIIx	Phase_I	Q15738	NSDHL_HUMAN			8	1048	+	Acute lymphoblastic leukemia(192;6.56e-05)		285					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.854G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.83992	-1.79;-1.79	4.4	4.4	0.53042	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.050844	0.85682	D	0.000000	D	0.87974	0.6313	L	0.51914	1.62	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	D	0.89101	0.3489	10	0.72032	D	0.01	-25.9604	14.1228	0.65201	0.0:0.0:1.0:0.0	.	285	Q15738	NSDHL_HUMAN	D	285	ENSP00000359297:G285D;ENSP00000391854:G285D	ENSP00000359297:G285D	G	+	2	0	NSDHL	151788048	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.769000	0.85360	2.126000	0.65437	0.544000	0.68410	GGC		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		7	420	0	0	0	1	0	7	420				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T	rs558921496	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:14184292C>T	ENST00000581935.1	+	0	981							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279													.|||	8	0.00159744	0.0015	0.0	5008	,	,		17560	0.004		0.001	False		,,,				2504	0.001					ENST00000581935.1																			0				lung(3)	3																																														440482							g.chr18:14184292C>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184292C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	981	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.279	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			10	8	0	0	0	1	0	10	8				
ZFX	7543	broad.mit.edu	37	X	24197445	24197445	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:24197445T>C	ENST00000379177.1	+	6	631	c.204T>C	c.(202-204)atT>atC	p.I68I	ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Silent_p.I68I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Silent_p.I107I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAGATGTTATTGAGGACGTTG	0.403																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(202-204)atT>atC		zinc finger protein, X-linked							272.0	228.0	243.0					X																	24197445		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197445T>C		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.204T>C	X.37:g.24197445T>C			Somatic				ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Silent_p.I107I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I	p.I68I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			6	631	+			68					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.204T>C	CCDS14211.1																																																																																				0.403	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		4	254	0	0	0	1	0	4	254				
KMT2D	8085	broad.mit.edu	37	12	49447313	49447313	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49447313G>T	ENST00000301067.7	-	6	784	c.785C>A	c.(784-786)gCc>gAc	p.A262D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A262D(4)|p.L260fs*8(1)									ACGTTTGCGGGCAGTCAGAGC	0.577																																						ENST00000301067.7																			5	Substitution - Missense(4)|Deletion - Frameshift(1)	p.A262D(4)|p.L260fs*8(1)	kidney(4)|haematopoietic_and_lymphoid_tissue(1)								c.(784-786)gCc>gAc		lysine (K)-specific methyltransferase 2D							32.0	33.0	33.0					12																	49447313		2060	4201	6261	SO:0001583	missense	8085							g.chr12:49447313G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.785C>A	12.37:g.49447313G>T	ENSP00000301067:p.Ala262Asp		Somatic					p.A262D	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					6	784	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.785C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590579	0.46214	.	.	ENSG00000167548	ENST00000301067	D	0.87491	-2.26	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35013	N	0.003511	D	0.89908	0.6851	L	0.52011	1.625	0.39105	D	0.961361	D	0.60160	0.987	P	0.56278	0.795	D	0.91888	0.5521	10	0.87932	D	0	.	17.198	0.86899	0.0:0.0:1.0:0.0	.	262	O14686	MLL2_HUMAN	D	262	ENSP00000301067:A262D	ENSP00000301067:A262D	A	-	2	0	MLL2	47733580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.723000	0.98772	2.340000	0.79590	0.561000	0.74099	GCC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	54	1	0	6.42651e-13	1	7.77339e-13	11	54				
STPG1	90529	broad.mit.edu	37	1	24700199	24700199	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:24700199A>G	ENST00000374409.1	-	6	818	c.564T>C	c.(562-564)ccT>ccC	p.P188P	STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000440416.1_Silent_p.P141P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Silent_p.P141P	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	188					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TACCTGGGGGAGGTCCTTTAT	0.493																																						ENST00000374409.1																			0											c.(562-564)ccT>ccC		sperm-tail PG-rich repeat containing 1							212.0	222.0	219.0					1																	24700199		2203	4300	6503	SO:0001819	synonymous_variant	90529							g.chr1:24700199A>G	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.564T>C	1.37:g.24700199A>G			Somatic				STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000440416.1_Silent_p.P141P	p.P188P	NM_001199012.1	NP_001185941.1	WXS	Illumina GAIIx	Phase_I					6	818	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Silent	SNP	ENST00000374409.1	37	c.564T>C	CCDS55581.1																																																																																				0.493	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		7	797	0	0	0	1	0	7	797				
ABCC11	85320	broad.mit.edu	37	16	48221210	48221210	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:48221210G>T	ENST00000394747.1	-	20	3184	c.2835C>A	c.(2833-2835)tcC>tcA	p.S945S	ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000353782.5_Silent_p.S945S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCACCATTAAGGACAGGACCA	0.468																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2833-2835)tcC>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							101.0	85.0	91.0					16																	48221210		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221210G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2835C>A	16.37:g.48221210G>T			Somatic				ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.S945S	p.S945S	NM_033151.3	NP_149163.2	WXS	Illumina GAIIx	Phase_I	Q96J66	ABCCB_HUMAN			20	3184	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	945			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.2835C>A	CCDS10732.1																																																																																				0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	169	1	0	1.06961e-07	1	1.23464e-07	8	169				
C9orf64	84267	broad.mit.edu	37	9	86571165	86571165	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:86571165T>C	ENST00000376344.3	-	1	467	c.251A>G	c.(250-252)gAg>gGg	p.E84G	C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	84										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACACTTGTGCTCGTCCTGCTC	0.597																																						ENST00000376344.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(250-252)gAg>gGg		chromosome 9 open reading frame 64							124.0	123.0	123.0					9																	86571165		2078	4210	6288	SO:0001583	missense	84267							g.chr9:86571165T>C	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.251A>G	9.37:g.86571165T>C	ENSP00000365522:p.Glu84Gly		Somatic				C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	p.E84G	NM_032307.3	NP_115683.3	WXS	Illumina GAIIx	Phase_I	Q5T6V5	CI064_HUMAN			1	467	-			84					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.251A>G	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463396	0.63513	.	.	ENSG00000165118	ENST00000376344	.	.	.	5.16	5.16	0.70880	.	0.529041	0.21238	N	0.077879	T	0.52008	0.1708	L	0.47716	1.5	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.49113	-0.8973	9	0.23302	T	0.38	-17.8549	15.2904	0.73862	0.0:0.0:0.0:1.0	.	84	Q5T6V5	CI064_HUMAN	G	84	.	ENSP00000365522:E84G	E	-	2	0	C9orf64	85760985	0.968000	0.33430	0.937000	0.37676	0.976000	0.68499	2.580000	0.46068	2.083000	0.62718	0.379000	0.24179	GAG		0.597	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		4	365	0	0	0	1	0	4	365				
RNF19B	127544	broad.mit.edu	37	1	33402681	33402681	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:33402681C>G	ENST00000373456.7	-	9	1924	c.1925G>C	c.(1924-1926)tGt>tCt	p.C642S	RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	642					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C451S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCTGTTCACAGCTTTGGTG	0.552																																						ENST00000373456.7																			1	Substitution - Missense(1)	p.C451S(1)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1924-1926)tGt>tCt		ring finger protein 19B							138.0	124.0	128.0					1																	33402681		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402681C>G	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1925G>C	1.37:g.33402681C>G	ENSP00000362555:p.Cys642Ser		Somatic				RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S|RNF19B_ENST00000356990.5_3'UTR	p.C642S	NM_153341.2	NP_699172.2	WXS	Illumina GAIIx	Phase_I	Q6ZMZ0	RN19B_HUMAN			9	1924	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	642					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1925G>C	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355090	0.41700	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.31769	1.48;1.49	4.91	4.91	0.64330	.	0.286501	0.35495	N	0.003179	T	0.37544	0.1007	L	0.38175	1.15	0.44117	D	0.996892	D;D	0.56521	0.976;0.958	P;P	0.53360	0.724;0.534	T	0.03784	-1.1004	10	0.26408	T	0.33	.	18.1253	0.89584	0.0:1.0:0.0:0.0	.	641;642	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	S	642;641	ENSP00000362555:C642S;ENSP00000235150:C641S	ENSP00000235150:C641S	C	-	2	0	RNF19B	33175268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.898000	0.48672	2.443000	0.82685	0.537000	0.68136	TGT		0.552	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		6	331	0	0	0	1	0	6	331				
DIO1	1733	broad.mit.edu	37	1	54360161	54360161	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:54360161C>T	ENST00000361921.3	+	1	302	c.278C>T	c.(277-279)cCa>cTa	p.P93L	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L|DIO1_ENST00000525202.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGTCTGGCCCCAAACTGCCCG	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(277-279)cCa>cTa		deiodinase, iodothyronine, type I							50.0	44.0	46.0					1																	54360161		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360161C>T		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.278C>T	1.37:g.54360161C>T	ENSP00000354643:p.Pro93Leu		Somatic				DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR	p.P93L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	302	+			93					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.278C>T	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715767	0.68844	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	4.79	4.79	0.61399	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.89478	3.035	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.82070	-0.0639	10	0.87932	D	0	.	16.198	0.82043	0.0:1.0:0.0:0.0	.	93;93;93	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	L	50;93;93;93;93	ENSP00000432797:P50L;ENSP00000354643:P93L;ENSP00000323198:P93L;ENSP00000434758:P93L;ENSP00000373528:P93L	ENSP00000323198:P93L	P	+	2	0	DIO1	54132749	1.000000	0.71417	0.996000	0.52242	0.535000	0.34838	4.312000	0.59154	2.492000	0.84095	0.561000	0.74099	CCA		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			25	190	0	0	0	1	0	25	190				
DNAH11	8701	broad.mit.edu	37	7	21892083	21892083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:21892083A>T	ENST00000409508.3	+	67	10927		c.e67-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTTTATTAGTTGGTATTG	0.403									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e68-1		dynein, axonemal, heavy chain 11							92.0	85.0	87.0					7																	21892083		1828	4077	5905	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21892083A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10897-1A>T	7.37:g.21892083A>T			Somatic				DNAH11_ENST00000409508.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			68	10948	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	a	21.4	4.142549	0.77888	.	.	ENSG00000105877	ENST00000328843;ENST00000421290	.	.	.	6.14	6.14	0.99180	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4552	0.84009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21858608	1.000000	0.71417	0.983000	0.44433	0.939000	0.58152	6.847000	0.75404	2.364000	0.80123	0.524000	0.50904	.		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	10	103	0	0	0	1	0	10	103				
CHRNB2	1141	broad.mit.edu	37	1	154544277	154544277	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154544277C>A	ENST00000368476.3	+	5	1242	c.978C>A	c.(976-978)ccC>ccA	p.P326P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	326					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACCGCTCGCCCACCACGCACA	0.632																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(976-978)ccC>ccA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						85.0	62.0	70.0					1																	154544277		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544277C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.978C>A	1.37:g.154544277C>A			Somatic					p.P326P	NM_000748.2	NP_000739.1	WXS	Illumina GAIIx	Phase_I	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1242	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		326					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.978C>A	CCDS1070.1																																																																																				0.632	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		6	151	1	0	0.0293803	1	0.0295265	6	151				
FN1	2335	broad.mit.edu	37	2	216236992	216236992	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:216236992C>A	ENST00000359671.1	-	39	6346	c.6081G>T	c.(6079-6081)ggG>ggT	p.G2027G	FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000354785.4_Silent_p.G2118G|FN1_ENST00000432072.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000323926.6_Silent_p.G2118G			P02751	FINC_HUMAN	fibronectin 1	2027	Connecting strand 3 (CS-3) (V region).			G -> R (in Ref. 5; CAD97965/CAD97964). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2027G(1)|p.G2118G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGTGTCATACCCAGGGTGGG	0.498																																						ENST00000354785.4																		FN1/ALK(2)	2	Substitution - coding silent(2)	p.G2027G(1)|p.G2118G(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6352-6354)ggG>ggT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	82.0	85.0					2																	216236992		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236992C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6081G>T	2.37:g.216236992C>A			Somatic				FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000345488.5_Intron|FN1_ENST00000323926.6_Silent_p.G2118G	p.G2118G			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6723	-		Renal(323;0.127)	2027			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.6354G>T																																																																																					0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		67	104	1	0	1.34159e-35	1	1.66259e-35	67	104				
C22orf42	150297	broad.mit.edu	37	22	32546391	32546391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:32546391A>G	ENST00000382097.3	-	7	641	c.569T>C	c.(568-570)cTa>cCa	p.L190P	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	190										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGAGACAGATAGGCTTTCACT	0.438																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(568-570)cTa>cCa		chromosome 22 open reading frame 42							146.0	131.0	136.0					22																	32546391		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546391A>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.569T>C	22.37:g.32546391A>G	ENSP00000371529:p.Leu190Pro		Somatic					p.L190P	NM_001010859.1	NP_001010859.1	WXS	Illumina GAIIx	Phase_I	Q6IC83	CV042_HUMAN			7	641	-			190					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.569T>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	a	3.134	-0.177817	0.06380	.	.	ENSG00000205856	ENST00000382097	T	0.25749	1.78	0.637	-1.27	0.09347	.	.	.	.	.	T	0.20861	0.0502	N	0.08118	0	0.09310	N	1	D	0.54397	0.966	P	0.61070	0.883	T	0.15896	-1.0421	8	0.87932	D	0	.	.	.	.	.	190	Q6IC83	CV042_HUMAN	P	190	ENSP00000371529:L190P	ENSP00000371529:L190P	L	-	2	0	C22orf42	30876391	0.015000	0.18098	0.001000	0.08648	0.151000	0.21798	-0.473000	0.06615	-0.875000	0.04022	0.076000	0.15429	CTA		0.438	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		4	194	0	0	0	1	0	4	194				
ZMYM3	9203	broad.mit.edu	37	X	70462203	70462203	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:70462203C>T	ENST00000353904.2	-	23	3806	c.3619G>A	c.(3619-3621)Gtc>Atc	p.V1207I	ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373998.1_Missense_Mutation_p.V1195I|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1207					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGGAGGACAAAGGGCGAG	0.537																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3583-3585)Gtc>Atc		zinc finger, MYM-type 3							97.0	65.0	76.0					X																	70462203		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462203C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3619G>A	X.37:g.70462203C>T	ENSP00000343909:p.Val1207Ile		Somatic				ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373984.3_Intron	p.V1195I	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			23	4280	-	Renal(35;0.156)		1207					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3583G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	17.16	3.317584	0.60524	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.50813	1.33;0.73;1.33;1.32	4.68	3.78	0.43462	.	0.000000	0.64402	D	0.000009	T	0.48822	0.1521	L	0.46885	1.475	0.32741	N	0.507728	B;B	0.33318	0.355;0.408	B;B	0.43082	0.285;0.407	T	0.63056	-0.6722	10	0.46703	T	0.11	-12.591	13.4908	0.61393	0.1562:0.8438:0.0:0.0	.	1195;1207	Q14202-2;Q14202	.;ZMYM3_HUMAN	I	1207;1195;1207;1209	ENSP00000322845:V1207I;ENSP00000363110:V1195I;ENSP00000343909:V1207I;ENSP00000363100:V1209I	ENSP00000322845:V1207I	V	-	1	0	ZMYM3	70378928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.470000	0.53100	2.166000	0.68216	0.525000	0.51046	GTC		0.537	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	174	0	0	0	1	0	19	174				
SLC29A1	2030	broad.mit.edu	37	6	44198568	44198568	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:44198568G>A	ENST00000393841.1	+	9	1199	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q|SLC29A1_ENST00000393844.1_Silent_p.Q236Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	236					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GCTACTACCAGCAGCTCAAGC	0.542																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(706-708)caG>caA		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						87.0	100.0	95.0					6																	44198568		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198568G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.708G>A	6.37:g.44198568G>A			Somatic				SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q	p.Q236Q	NM_001078177.1	NP_001071645.1	WXS	Illumina GAIIx	Phase_I	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1199	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		236					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.708G>A	CCDS4908.1																																																																																				0.542	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	352	0	0	0	1	0	4	352				
PRKDC	5591	broad.mit.edu	37	8	48852194	48852194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:48852194G>A	ENST00000314191.2	-	11	1086	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	344					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCATAAAACTGCTCCATAAAG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(1030-1032)Cag>Tag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							97.0	93.0	94.0					8																	48852194		1862	4100	5962	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48852194G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1030C>T	8.37:g.48852194G>A	ENSP00000313420:p.Gln344*		Somatic				PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR	p.Q344*	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			11	1086	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	344					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.1030C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.664918	0.97747	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.73	5.73	0.89815	.	0.147706	0.46145	D	0.000314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.8869	0.96915	0.0:0.0:1.0:0.0	.	.	.	.	X	344	.	ENSP00000313420:Q344X	Q	-	1	0	PRKDC	49014747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.714000	0.61902	2.693000	0.91896	0.655000	0.94253	CAG		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	65	0	0	0	1	0	4	65				
AIFM2	84883	broad.mit.edu	37	10	71876416	71876416	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:71876416C>T	ENST00000307864.1	-	7	944	c.731G>A	c.(730-732)gGc>gAc	p.G244D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	244					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GATCTTGATGCCGGTGCAGAG	0.567											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(730-732)gGc>gAc		apoptosis-inducing factor, mitochondrion-associated, 2							142.0	131.0	135.0					10																	71876416		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71876416C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.731G>A	10.37:g.71876416C>T	ENSP00000312370:p.Gly244Asp		Somatic	OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D	p.G244D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	WXS	Illumina GAIIx	Phase_I	Q9BRQ8	AIFM2_HUMAN			7	944	-			244					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.731G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804581	0.90623	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.55052	0.54;0.54	5.33	5.33	0.75918	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85889	0.1427	10	0.87932	D	0	-23.6072	18.6264	0.91340	0.0:1.0:0.0:0.0	.	244	Q9BRQ8	AIFM2_HUMAN	D	244;244;207	ENSP00000362345:G244D;ENSP00000312370:G244D	ENSP00000312370:G244D	G	-	2	0	AIFM2	71546422	1.000000	0.71417	0.451000	0.26982	0.739000	0.42172	7.475000	0.81041	2.512000	0.84698	0.655000	0.94253	GGC		0.567	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		4	248	0	0	0	1	0	4	248				
OR51Q1	390061	broad.mit.edu	37	11	5443935	5443935	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5443935C>T	ENST00000300778.4	+	1	595	c.505C>T	c.(505-507)Cct>Tct	p.P169S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169						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(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCGACTGCCTTTCTGCCA	0.517																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(505-507)Cct>Tct		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							210.0	196.0	201.0					11																	5443935		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443935C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.505C>T	11.37:g.5443935C>T	ENSP00000300778:p.Pro169Ser		Somatic				AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	p.P169S	NM_001004757.2	NP_001004757.1	WXS	Illumina GAIIx	Phase_I	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	595	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	169					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.505C>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634762	0.29068	.	.	ENSG00000167360	ENST00000300778	T	0.00164	8.64	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.108661	0.41712	D	0.000823	T	0.00328	0.0010	L	0.39147	1.195	0.42082	D	0.991256	D	0.89917	1.0	D	0.97110	1.0	D	0.99449	1.0940	10	0.18710	T	0.47	.	17.191	0.86879	0.0:1.0:0.0:0.0	.	169	Q8NH59	O51Q1_HUMAN	S	169	ENSP00000300778:P169S	ENSP00000300778:P169S	P	+	1	0	OR51Q1	5400511	0.000000	0.05858	1.000000	0.80357	0.237000	0.25408	0.067000	0.14510	2.641000	0.89580	0.380000	0.24917	CCT		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	695	0	0	0	1	0	7	695				
CBL	867	broad.mit.edu	37	11	119149404	119149404	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:119149404A>G	ENST00000264033.4	+	9	1788	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	471	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTCATGATGAAGGAATTGGCT	0.463			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1411-1413)aAg>aGg		Cbl proto-oncogene, E3 ubiquitin protein ligase							77.0	82.0	80.0					11																	119149404		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149404A>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1412A>G	11.37:g.119149404A>G	ENSP00000264033:p.Lys471Arg		Somatic					p.K471R	NM_005188.3	NP_005179.2	WXS	Illumina GAIIx	Phase_I	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1788	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	471			Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1412A>G	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062807	0.36373	.	.	ENSG00000110395	ENST00000264033	T	0.77620	-1.11	5.96	5.96	0.96718	.	0.247650	0.45867	D	0.000327	T	0.68933	0.3055	L	0.44542	1.39	0.37147	D	0.901977	P	0.34462	0.454	B	0.29598	0.104	T	0.70077	-0.4971	10	0.15066	T	0.55	-41.5853	16.4484	0.83959	1.0:0.0:0.0:0.0	.	471	P22681	CBL_HUMAN	R	471	ENSP00000264033:K471R	ENSP00000264033:K471R	K	+	2	0	CBL	118654614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.931000	0.63469	2.285000	0.76669	0.533000	0.62120	AAG		0.463	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		3	137	0	0	0	1	0	3	137				
BAZ1B	9031	broad.mit.edu	37	7	72856668	72856668	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:72856668A>G	ENST00000339594.4	-	19	4648	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1437					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V1437A(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAACAGAGCCACTAGACACTG	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			1	Substitution - Missense(1)	p.V1437A(1)	kidney(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(4309-4311)gTg>gCg		bromodomain adjacent to zinc finger domain, 1B							144.0	129.0	134.0					7																	72856668		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72856668A>G	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4310T>C	7.37:g.72856668A>G	ENSP00000342434:p.Val1437Ala		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	p.V1437A	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			19	4648	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1437					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.4310T>C	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277203	0.40294	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.18502	2.21;2.21	5.54	5.54	0.83059	Bromodomain (3);	0.580363	0.18290	N	0.145733	T	0.10766	0.0263	N	0.19112	0.55	0.27313	N	0.957251	B	0.16603	0.018	B	0.14023	0.01	T	0.25847	-1.0120	10	0.13853	T	0.58	-6.7698	10.9337	0.47233	0.8432:0.1568:0.0:0.0	.	1437	Q9UIG0	BAZ1B_HUMAN	A	1437	ENSP00000342434:V1437A;ENSP00000385442:V1437A	ENSP00000342434:V1437A	V	-	2	0	BAZ1B	72494604	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.701000	0.54793	2.094000	0.63399	0.523000	0.50628	GTG		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		13	138	0	0	0	1	0	13	138				
LRRN3	54674	broad.mit.edu	37	7	110763992	110763992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:110763992C>T	ENST00000422987.3	+	2	1995	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Silent_p.F388F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	388	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACATTCGATTCATGGAGCCAG	0.463																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1162-1164)ttC>ttT		leucine rich repeat neuronal 3							107.0	88.0	95.0					7																	110763992		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763992C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1164C>T	7.37:g.110763992C>T			Somatic				IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000437687.1_Intron	p.F388F	NM_001099660.1	NP_001093130.1	WXS	Illumina GAIIx	Phase_I	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2210	+			388			LRRCT.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.1164C>T	CCDS5754.1																																																																																				0.463	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	187	0	0	0	1	0	7	187				
DNAH10	196385	broad.mit.edu	37	12	124377846	124377846	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:124377846C>A	ENST00000409039.3	+	52	8733	c.8708C>A	c.(8707-8709)gCt>gAt	p.A2903D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2903	AAA 4. {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)		GGACAGGAAGCTCTGAAGCAA	0.498																																						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.(8707-8709)gCt>gAt		dynein, axonemal, heavy chain 10							69.0	74.0	73.0					12																	124377846		2048	4215	6263	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124377846C>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.8708C>A	12.37:g.124377846C>A	ENSP00000386770:p.Ala2903Asp		Somatic					p.A2903D	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)	52	8733	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2903			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8708C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563211	0.86335	.	.	ENSG00000197653	ENST00000409039	T	0.44083	0.93	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.074149	0.53938	U	0.000051	T	0.66268	0.2772	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68667	-0.5348	10	0.51188	T	0.08	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	2903	Q8IVF4	DYH10_HUMAN	D	2903	ENSP00000386770:A2903D	ENSP00000386770:A2903D	A	+	2	0	DNAH10	122943799	1.000000	0.71417	0.274000	0.24659	0.029000	0.11900	7.548000	0.82154	2.621000	0.88768	0.561000	0.74099	GCT		0.498	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	175	1	0	0.184627	1	0.184627	4	175				
KAT8	84148	broad.mit.edu	37	16	31141445	31141445	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:31141445G>A	ENST00000543774.2	+	8	1214	c.879G>A	c.(877-879)cgG>cgA	p.R293R	KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	293	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										AGGTGGACCGGCAGGGGGCCC	0.577																																						ENST00000543774.2																			0											c.(877-879)cgG>cgA		K(lysine) acetyltransferase 8							168.0	179.0	176.0					16																	31141445		2197	4300	6497	SO:0001819	synonymous_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141445G>A	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.879G>A	16.37:g.31141445G>A			Somatic				KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R	p.R293R			WXS	Illumina GAIIx	Phase_I	Q9H7Z6	MYST1_HUMAN			8	1214	+			293					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	c.879G>A	CCDS10706.1																																																																																				0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		5	410	0	0	0	1	0	5	410				
CLC	1178	broad.mit.edu	37	19	40222097	40222097	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:40222097G>A	ENST00000221804.4	-	4	427	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	118	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACAGCCTCAGGCTTGATTCTA	0.398																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(352-354)Cct>Tct		Charcot-Leyden crystal galectin							178.0	174.0	176.0					19																	40222097		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40222097G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.352C>T	19.37:g.40222097G>A	ENSP00000221804:p.Pro118Ser		Somatic					p.P118S	NM_001828.5	NP_001819.2	WXS	Illumina GAIIx	Phase_I	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	4	427	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	118			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.352C>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	2.056	-0.416554	0.04766	.	.	ENSG00000105205	ENST00000221804	T	0.18016	2.24	0.659	-1.19	0.09585	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.21962	0.0529	M	0.86343	2.81	0.09310	N	1	P	0.44816	0.844	P	0.45037	0.467	T	0.17410	-1.0370	8	0.22109	T	0.4	.	.	.	.	.	118	Q05315	LPPL_HUMAN	S	118	ENSP00000221804:P118S	ENSP00000221804:P118S	P	-	1	0	CLC	44913937	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.217000	0.17603	-1.703000	0.01409	-1.224000	0.01588	CCT		0.398	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		8	685	0	0	0	1	0	8	685				
GPR126	57211	broad.mit.edu	37	6	142691426	142691426	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:142691426G>A	ENST00000230173.6	+	4	1041	c.565G>A	c.(565-567)Gca>Aca	p.A189T	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000296932.8_Missense_Mutation_p.A189T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	189	Pentaxin.				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.A189T(1)|p.A188T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCTTTGAAGCAACCAAAGT	0.438																																						ENST00000230173.6																			2	Substitution - Missense(2)	p.A189T(1)|p.A188T(1)	kidney(2)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(565-567)Gca>Aca		G protein-coupled receptor 126							76.0	68.0	70.0					6																	142691426		1909	4145	6054	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691426G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.565G>A	6.37:g.142691426G>A	ENSP00000230173:p.Ala189Thr		Somatic				GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron	p.A189T	NM_020455.5	NP_065188.4	WXS	Illumina GAIIx	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1041	+	Breast(32;0.176)		189			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.565G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495673	0.64186	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;3.29	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096044	0.45606	D	0.000343	T	0.68686	0.3028	M	0.67953	2.075	0.34058	D	0.656946	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.992	D;D;D;D;P	0.71656	0.94;0.94;0.956;0.974;0.813	T	0.71133	-0.4681	10	0.49607	T	0.09	.	18.6937	0.91593	0.0:0.0:1.0:0.0	.	189;189;189;189;188	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	T	189;189;189;189;188	ENSP00000230173:A189T;ENSP00000356580:A189T;ENSP00000296932:A189T;ENSP00000356581:A189T;ENSP00000446287:A188T	ENSP00000230173:A189T	A	+	1	0	GPR126	142733119	1.000000	0.71417	0.997000	0.53966	0.400000	0.30750	7.032000	0.76498	2.424000	0.82194	0.650000	0.86243	GCA		0.438	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			24	97	0	0	0	1	0	24	97				
ACBD3	64746	broad.mit.edu	37	1	226340280	226340280	+	Silent	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:226340280T>G	ENST00000366812.5	-	7	1185	c.1131A>C	c.(1129-1131)cgA>cgC	p.R377R	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	377					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGATCTGAGGTCGTGTCCACA	0.468																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1129-1131)cgA>cgC		acyl-CoA binding domain containing 3							145.0	150.0	148.0					1																	226340280		2203	4300	6503	SO:0001819	synonymous_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340280T>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1131A>C	1.37:g.226340280T>G			Somatic				RP11-275I14.4_ENST00000440540.1_RNA	p.R377R	NM_022735.3	NP_073572.2	WXS	Illumina GAIIx	Phase_I	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1185	-	Breast(184;0.158)		377					B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Silent	SNP	ENST00000366812.5	37	c.1131A>C	CCDS1551.1																																																																																				0.468	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		7	259	0	0	0	1	0	7	259				
PLCH1	23007	broad.mit.edu	37	3	155303879	155303879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:155303879C>T	ENST00000340059.7	-	4	538	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.R162Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	180	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTTTTCTTCGGGGCAGATT	0.363																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(484-486)cGa>cAa		phospholipase C, eta 1							125.0	123.0	124.0					3																	155303879		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155303879C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.539G>A	3.37:g.155303879C>T	ENSP00000345988:p.Arg180Gln		Somatic				PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q	p.R162Q			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	842	-			180			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.485G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575904	0.96553	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.51	5.51	0.81932	EF-hand-like domain (1);	0.080716	0.49305	N	0.000154	T	0.79364	0.4433	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.976;0.989;0.934	T	0.79843	-0.1632	10	0.54805	T	0.06	.	19.4394	0.94811	0.0:1.0:0.0:0.0	.	162;180;180	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	180;162;180;180;162;162	ENSP00000419100:R180Q;ENSP00000417502:R162Q;ENSP00000402759:R180Q;ENSP00000345988:R180Q;ENSP00000335469:R162Q;ENSP00000412977:R162Q	ENSP00000335469:R162Q	R	-	2	0	PLCH1	156786573	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.711000	0.84669	2.581000	0.87130	0.655000	0.94253	CGA		0.363	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		90	349	0	0	0	1	0	90	349				
MOCOS	55034	broad.mit.edu	37	18	33795583	33795583	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:33795583C>A	ENST00000261326.5	+	8	1461	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGTCCAGGCCTTTCTTAGGT	0.552																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1438-1440)gcC>gcA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						68.0	66.0	67.0					18																	33795583		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795583C>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1440C>A	18.37:g.33795583C>A			Somatic					p.A480A	NM_017947.2	NP_060417.2	WXS	Illumina GAIIx	Phase_I	Q96EN8	MOCOS_HUMAN			8	1461	+			480						Silent	SNP	ENST00000261326.5	37	c.1440C>A	CCDS11919.1																																																																																				0.552	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			15	160	1	0	8.00594e-06	1	8.88571e-06	15	160				
RFX2	5990	broad.mit.edu	37	19	6013023	6013023	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:6013023C>T	ENST00000303657.5	-	8	1022	c.873G>A	c.(871-873)cgG>cgA	p.R291R	RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.R266R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGCTGCTGCCGCATGGCCA	0.617																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(871-873)cgG>cgA		regulatory factor X, 2 (influences HLA class II expression)							99.0	100.0	99.0					19																	6013023		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6013023C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.873G>A	19.37:g.6013023C>T			Somatic				RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.R266R	p.R291R	NM_000635.3	NP_000626.2	WXS	Illumina GAIIx	Phase_I	P48378	RFX2_HUMAN			8	1022	-			291					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.873G>A	CCDS12157.1																																																																																				0.617	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		5	372	0	0	0	1	0	5	372				
EGR1	1958	broad.mit.edu	37	5	137802543	137802543	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:137802543C>T	ENST00000239938.4	+	2	677	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	135					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTATACTGGCCGCTTTTCCC	0.582																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(403-405)ggC>ggT		early growth response 1							96.0	104.0	102.0					5																	137802543		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802543C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.405C>T	5.37:g.137802543C>T			Somatic					p.G135G	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	677	+			135						Silent	SNP	ENST00000239938.4	37	c.405C>T	CCDS4206.1																																																																																				0.582	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		5	92	0	0	0	1	0	5	92				
PAQR3	152559	broad.mit.edu	37	4	79845029	79845029	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:79845029G>T	ENST00000512733.1	-	5	988	c.775C>A	c.(775-777)Cca>Aca	p.P259T	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	259					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TACCGCTCTGGGACTTTGGAA	0.373																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(775-777)Cca>Aca		progestin and adipoQ receptor family member III							87.0	80.0	83.0					4																	79845029		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79845029G>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.775C>A	4.37:g.79845029G>T	ENSP00000421981:p.Pro259Thr		Somatic				PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000515541.1_Intron	p.P259T	NM_001040202.1	NP_001035292.1	WXS	Illumina GAIIx	Phase_I	Q6TCH7	PAQR3_HUMAN			5	988	-			259					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.775C>A	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384192	0.82792	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.81163	-1.46;-1.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93470	0.6818	10	0.87932	D	0	-21.8408	19.6296	0.95694	0.0:0.0:1.0:0.0	.	259	Q6TCH7	PAQR3_HUMAN	T	259	ENSP00000421981:P259T;ENSP00000370019:P259T	ENSP00000344203:P259T	P	-	1	0	PAQR3	80064053	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.716000	0.98752	2.644000	0.89710	0.655000	0.94253	CCA		0.373	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		13	183	1	0	6.81908e-15	1	8.3482e-15	13	183				
SYTL4	94121	broad.mit.edu	37	X	99955907	99955907	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:99955907C>T	ENST00000372989.1	-	7	856	c.525G>A	c.(523-525)cgG>cgA	p.R175R	SYTL4_ENST00000455616.1_Silent_p.R175R|SYTL4_ENST00000372981.1_Silent_p.R175R|SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCTCCTTCTGCCGCTCCTGAA	0.383																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(523-525)cgG>cgA		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						127.0	114.0	119.0					X																	99955907		2203	4300	6503	SO:0001819	synonymous_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99955907C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.525G>A	X.37:g.99955907C>T			Somatic				SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R|SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R	p.R175R			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			5	711	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	c.525G>A	CCDS14472.1																																																																																				0.383	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		4	330	0	0	0	1	0	4	330				
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:11411762C>G	ENST00000304623.8	-	5	514	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(325-327)Ggt>Cgt		catenin (cadherin-associated protein), delta 2							75.0	71.0	72.0					5																	11411762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411762C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.325G>C	5.37:g.11411762C>G	ENSP00000307134:p.Gly109Arg		Somatic				CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R	p.G109R	NM_001332.2	NP_001323.1	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			5	514	-			109					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.325G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828219	0.90955	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.91631	-1.08;-1.15;-1.11;-2.88	5.86	5.86	0.93980	Armadillo-like helical (1);	0.063063	0.64402	D	0.000007	D	0.95124	0.8420	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94516	0.7723	10	0.52906	T	0.07	-12.1045	20.1951	0.98241	0.0:1.0:0.0:0.0	.	18;109	B4DRK2;Q9UQB3	.;CTND2_HUMAN	R	109;109;18;18;95;18;95	ENSP00000307134:G109R;ENSP00000352661:G109R;ENSP00000426510:G18R;ENSP00000426887:G18R	ENSP00000307134:G109R	G	-	1	0	CTNND2	11464762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.431000	0.80335	2.780000	0.95670	0.585000	0.79938	GGT		0.338	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		15	40	0	0	0	1	0	15	40				
SIK2	23235	broad.mit.edu	37	11	111591712	111591712	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:111591712A>C	ENST00000304987.3	+	12	2043	c.1870A>C	c.(1870-1872)Ata>Cta	p.I624L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	624					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I624L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGAACAAATAGGACCGGA	0.507																																						ENST00000304987.3																			1	Substitution - Missense(1)	p.I624L(1)	kidney(1)	breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1870-1872)Ata>Cta		salt-inducible kinase 2							93.0	96.0	95.0					11																	111591712		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591712A>C	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1870A>C	11.37:g.111591712A>C	ENSP00000305976:p.Ile624Leu		Somatic					p.I624L	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			12	2043	+			624					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1870A>C	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517812	0.44763	.	.	ENSG00000170145	ENST00000304987	T	0.69806	-0.43	6.17	0.889	0.19212	.	0.198851	0.64402	N	0.000011	T	0.46229	0.1382	N	0.19112	0.55	0.23089	N	0.998318	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.32370	T	0.25	.	9.5189	0.39122	0.5355:0.3521:0.0:0.1124	.	624	Q9H0K1	SIK2_HUMAN	L	624	ENSP00000305976:I624L	ENSP00000305976:I624L	I	+	1	0	SIK2	111096922	0.987000	0.35691	0.002000	0.10522	0.502000	0.33828	2.615000	0.46368	0.163000	0.19507	0.533000	0.62120	ATA		0.507	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		3	208	0	0	0	1	0	3	208				
ABCG4	64137	broad.mit.edu	37	11	119024975	119024975	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:119024975C>T	ENST00000449422.2	+	4	550	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F|ABCG4_ENST00000307417.3_Missense_Mutation_p.S121F	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	121	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCAGGGAGTCTGGAATGAAG	0.542																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(361-363)tCt>tTt		ATP-binding cassette, sub-family G (WHITE), member 4							70.0	62.0	64.0					11																	119024975		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024975C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.362C>T	11.37:g.119024975C>T	ENSP00000406874:p.Ser121Phe		Somatic				ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F|ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F	p.S121F	NM_022169.4	NP_071452.2	WXS	Illumina GAIIx	Phase_I	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	726	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	121			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.362C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904918	0.52333	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.22	2.24	0.28232	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.346517	0.32836	N	0.005597	D	0.90789	0.7108	L	0.55990	1.75	0.35054	D	0.760943	B	0.27971	0.196	B	0.34452	0.183	D	0.88660	0.3188	10	0.66056	D	0.02	-1.7315	9.5165	0.39109	0.0:0.6539:0.2701:0.0759	.	121	Q9H172	ABCG4_HUMAN	F	121	ENSP00000304111:S121F;ENSP00000431915:S121F;ENSP00000406874:S121F;ENSP00000434318:S121F	ENSP00000304111:S121F	S	+	2	0	ABCG4	118530185	0.975000	0.34042	0.855000	0.33649	0.598000	0.36846	2.429000	0.44758	0.183000	0.20059	-0.440000	0.05779	TCT		0.542	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		5	208	0	0	0	1	0	5	208				
SLC44A2	57153	broad.mit.edu	37	19	10748947	10748947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:10748947C>T	ENST00000335757.5	+	20	2261	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	AC011475.1_ENST00000430975.1_5'Flank|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	629					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGGATCGTGCAGGATACAGC	0.502																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1885-1887)Cag>Tag		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						181.0	166.0	171.0					19																	10748947		2203	4300	6503	SO:0001587	stop_gained	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748947C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1885C>T	19.37:g.10748947C>T	ENSP00000336888:p.Gln629*		Somatic				SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*	p.Q629*	NM_020428.3	NP_065161.3	WXS	Illumina GAIIx	Phase_I	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		20	1994	+			629					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Nonsense_Mutation	SNP	ENST00000335757.5	37	c.1885C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	38	7.250279	0.98164	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	.	.	.	5.76	4.7	0.59300	.	0.161129	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-13.3486	15.6279	0.76878	0.0:0.8619:0.1381:0.0	.	.	.	.	X	627;629;629	.	ENSP00000336888:Q629X	Q	+	1	0	SLC44A2	10609947	0.982000	0.34865	1.000000	0.80357	0.931000	0.56810	2.007000	0.40883	1.400000	0.46741	0.561000	0.74099	CAG		0.502	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			5	558	0	0	0	1	0	5	558				
DCHS2	54798	broad.mit.edu	37	4	155252835	155252835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:155252835C>A	ENST00000357232.4	-	10	2264	c.2265G>T	c.(2263-2265)tgG>tgT	p.W755C	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	755	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACCATCTGCCCAGGTTATGA	0.468																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2263-2265)tgG>tgT		dachsous cadherin-related 2							60.0	52.0	55.0					4																	155252835		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155252835C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2265G>T	4.37:g.155252835C>A	ENSP00000349768:p.Trp755Cys		Somatic				DCHS2_ENST00000339452.1_Intron	p.W755C	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	10	2264	-	all_hematologic(180;0.208)	Renal(120;0.0854)	755			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2265G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431222	0.12045	.	.	ENSG00000197410	ENST00000357232	T	0.53423	0.62	3.53	-0.48	0.12085	Cadherin (2);Cadherin-like (1);	1.978870	0.02722	N	0.114157	T	0.27205	0.0667	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	10	0.39692	T	0.17	.	9.3896	0.38365	0.4182:0.5818:0.0:0.0	.	755	Q6V1P9	PCD23_HUMAN	C	755	ENSP00000349768:W755C	ENSP00000349768:W755C	W	-	3	0	DCHS2	155472285	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.658000	0.24979	-0.066000	0.12998	-0.397000	0.06425	TGG		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	48	1	0	0.0215528	1	0.0219882	5	48				
PAX7	5081	broad.mit.edu	37	1	18962797	18962797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:18962797C>T	ENST00000375375.3	+	4	1116	c.518C>T	c.(517-519)gCg>gTg	p.A173V	PAX7_ENST00000400661.3_Missense_Mutation_p.A171V|PAX7_ENST00000420770.2_Missense_Mutation_p.A173V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	173	Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		gaggatgaagcggacaagaag	0.527			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(517-519)gCg>gTg		paired box 7							217.0	188.0	198.0					1																	18962797		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18962797C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.518C>T	1.37:g.18962797C>T	ENSP00000364524:p.Ala173Val		Somatic				PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V	p.A173V	NM_001135254.1	NP_001128726.1	WXS	Illumina GAIIx	Phase_I	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	4	601	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	173					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.518C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865518	0.32977	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.94966	-3.57;-3.55;-3.57	4.88	-2.02	0.07388	.	0.930931	0.08913	N	0.875581	D	0.86912	0.6047	N	0.24115	0.695	0.26187	N	0.979646	B;P;B	0.44344	0.242;0.833;0.013	B;B;B	0.34138	0.054;0.176;0.004	T	0.76498	-0.2937	10	0.34782	T	0.22	.	12.1015	0.53788	0.0:0.2134:0.6962:0.0904	.	173;171;173	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	173;173;171	ENSP00000364524:A173V;ENSP00000403389:A173V;ENSP00000383502:A171V	ENSP00000364524:A173V	A	+	2	0	PAX7	18835384	0.939000	0.31865	0.160000	0.22671	0.952000	0.60782	1.660000	0.37397	-0.099000	0.12263	0.467000	0.42956	GCG		0.527	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		4	166	0	0	0	1	0	4	166				
SCMH1	22955	broad.mit.edu	37	1	41579034	41579034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:41579034G>T	ENST00000326197.7	-	7	935	c.636C>A	c.(634-636)tgC>tgA	p.C212*	SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*|SCMH1_ENST00000402904.2_Nonsense_Mutation_p.C212*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000456518.2_Intron					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AGTCGAAGCGGCACCAGTAGT	0.567																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(634-636)tgC>tgA		sex comb on midleg homolog 1 (Drosophila)							112.0	108.0	110.0					1																	41579034		2203	4300	6503	SO:0001587	stop_gained	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579034G>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.636C>A	1.37:g.41579034G>T	ENSP00000318094:p.Cys212*		Somatic				SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*	p.C212*	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			8	1004	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	212						Nonsense_Mutation	SNP	ENST00000326197.7	37	c.636C>A	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	40	8.350594	0.98772	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	5.92	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0216	0.47722	0.1566:0.0:0.8434:0.0	.	.	.	.	X	165;212;192;151;151;165;151;222;151;212	.	ENSP00000318094:C212X	C	-	3	2	SCMH1	41351621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.087000	0.50167	2.809000	0.96659	0.557000	0.71058	TGC		0.567	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			3	70	1	0	2.56e-06	1	2.87289e-06	3	70				
BID	637	broad.mit.edu	37	22	18220987	18220987	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:18220987G>C	ENST00000399774.3	-	5	541	c.372C>G	c.(370-372)aaC>aaG	p.N124K	BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_Missense_Mutation_p.N170K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.N170K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CCAGGTCCCTGTTCCGGTCCT	0.557																																						ENST00000317361.7																			1	Substitution - Missense(1)	p.N170K(1)	kidney(1)	large_intestine(2)|ovary(1)	3						c.(508-510)aaC>aaG		BH3 interacting domain death agonist							51.0	47.0	48.0					22																	18220987		2203	4300	6503	SO:0001583	missense	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18220987G>C	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.372C>G	22.37:g.18220987G>C	ENSP00000382674:p.Asn124Lys		Somatic				BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR	p.N170K	NM_197966.2	NP_932070.1	WXS	Illumina GAIIx	Phase_I	P55957	BID_HUMAN		Lung(27;0.0419)	5	836	-		all_epithelial(15;0.198)	124					Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	c.510C>G	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907224	0.17833	.	.	ENSG00000015475	ENST00000317361;ENST00000399767;ENST00000399774;ENST00000399765;ENST00000551952	T;T;T;T;T	0.22336	1.96;2.05;1.96;2.05;1.96	5.31	0.153	0.14897	.	0.607966	0.16818	N	0.198278	T	0.10637	0.0260	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.007	T	0.36089	-0.9762	10	0.11794	T	0.64	.	5.5063	0.16856	0.0:0.4672:0.31:0.2228	.	124;170	P55957;P55957-2	BID_HUMAN;.	K	170;28;124;28;124	ENSP00000318822:N170K;ENSP00000382669:N28K;ENSP00000382674:N124K;ENSP00000382667:N28K;ENSP00000449236:N124K	ENSP00000318822:N170K	N	-	3	2	BID	16600987	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.002000	0.03686	0.235000	0.21160	-0.147000	0.13772	AAC		0.557	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		61	36	0	0	0	1	0	61	36				
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(3145-3147)acT>acA		CCAAT/enhancer binding protein (C/EBP), zeta							37.0	37.0	37.0					2																	37428925		2203	4299	6502	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428925A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3147T>A	2.37:g.37428925A>T			Somatic				AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron	p.T1049T	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			16	3292	-		all_hematologic(82;0.21)	1049					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.3147T>A	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		3	21	0	0	0	1	0	3	21				
METTL8	79828	broad.mit.edu	37	2	172196066	172196066	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:172196066T>A	ENST00000375258.4	-	4	451		c.e4-2			NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8							cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CATACTTAACTAAAATAAAGA	0.269																																						ENST00000375258.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						c.e4-2		methyltransferase like 8							19.0	20.0	20.0					2																	172196066		2174	4198	6372	SO:0001630	splice_region_variant	79828						methyltransferase activity	g.chr2:172196066T>A	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.236-2A>T	2.37:g.172196066T>A			Somatic								WXS	Illumina GAIIx	Phase_I	B3KW44	B3KW44_HUMAN			4	451	-								Q53TM9|Q53TQ0	Splice_Site	SNP	ENST00000375258.4	37			.	.	.	.	.	.	.	.	.	.	T	17.20	3.329111	0.60743	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2183	0.82241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL8	171904312	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.341000	0.79300	2.234000	0.73211	0.477000	0.44152	.		0.269	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	Intron	4	75	0	0	0	1	0	4	75				
IL2RB	3560	broad.mit.edu	37	22	37524564	37524564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:37524564G>A	ENST00000216223.5	-	10	1426	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	410					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTGACAGAGGCTGCAGGGGT	0.652																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1228-1230)Cct>Tct		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						33.0	35.0	35.0					22																	37524564		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524564G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1228C>T	22.37:g.37524564G>A	ENSP00000216223:p.Pro410Ser		Somatic					p.P410S	NM_000878.3	NP_000869.1	WXS	Illumina GAIIx	Phase_I	P14784	IL2RB_HUMAN			10	1426	-			410					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1228C>T	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701594	0.48307	.	.	ENSG00000100385	ENST00000216223	T	0.12672	2.66	4.49	-0.311	0.12761	.	0.837191	0.10735	N	0.640188	T	0.24198	0.0586	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.12553	-1.0543	10	0.51188	T	0.08	-3.2214	3.6551	0.08218	0.1905:0.0:0.4703:0.3392	.	410	P14784	IL2RB_HUMAN	S	410	ENSP00000216223:P410S	ENSP00000216223:P410S	P	-	1	0	IL2RB	35854510	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.179000	0.16840	-0.036000	0.13669	-0.123000	0.14984	CCT		0.652	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			3	38	0	0	0	1	0	3	38				
CNKSR2	22866	broad.mit.edu	37	X	21627366	21627366	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:21627366C>A	ENST00000379510.3	+	20	2359	c.2323C>A	c.(2323-2325)Cca>Aca	p.P775T	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P745T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	775					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATTGAGACGCCACTGACAAG	0.562																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2233-2235)Cca>Aca		connector enhancer of kinase suppressor of Ras 2							100.0	98.0	99.0					X																	21627366		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627366C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2323C>A	X.37:g.21627366C>A	ENSP00000368824:p.Pro775Thr		Somatic				CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T	p.P745T	NM_001168647.1	NP_001162118.1	WXS	Illumina GAIIx	Phase_I	Q8WXI2	CNKR2_HUMAN			19	2713	+			775					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2233C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981612	0.74474	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.38560	1.52;1.13;1.19;1.68	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.73962	2.25	0.58432	D	0.999999	P;D;D;D	0.89917	0.895;0.998;1.0;1.0	P;D;D;D	0.97110	0.725;0.928;0.998;1.0	T	0.70117	-0.4960	10	0.66056	D	0.02	-7.7798	18.4121	0.90555	0.0:1.0:0.0:0.0	.	745;726;367;775	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	T	745;726;775;775	ENSP00000397906:P745T;ENSP00000444633:P726T;ENSP00000279451:P775T;ENSP00000368824:P775T	ENSP00000279451:P775T	P	+	1	0	CNKSR2	21537287	1.000000	0.71417	0.933000	0.37362	0.986000	0.74619	7.013000	0.76373	2.289000	0.77006	0.513000	0.50165	CCA		0.562	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		22	172	1	0	2.44723e-14	1	2.97796e-14	22	172				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1474-1476)cGt>cAt		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His		Somatic					p.R492H	NM_001137674.2	NP_001131146.2	WXS	Illumina GAIIx	Phase_I	A6NHJ4	ZN860_HUMAN			2	2024	+			492					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			3	94	0	0	0	1	0	3	94				
C10orf12	26148	broad.mit.edu	37	10	98743472	98743472	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:98743472G>T	ENST00000286067.2	+	1	2432	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	775										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCTAGATGAGGACGATGTTG	0.473																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2323-2325)gaG>gaT		chromosome 10 open reading frame 12							67.0	66.0	66.0					10																	98743472		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743472G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2325G>T	10.37:g.98743472G>T	ENSP00000286067:p.Glu775Asp		Somatic					p.E775D	NM_015652.2	NP_056467.2	WXS	Illumina GAIIx	Phase_I	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2432	+		Colorectal(252;0.172)	775					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2325G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024355	0.19433	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08193	3.12	5.82	0.545	0.17190	.	1.103820	0.07050	N	0.831739	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46816	-0.9164	10	0.18276	T	0.48	-5.1834	1.5401	0.02554	0.1906:0.1128:0.3485:0.3481	.	775	Q8N655	CJ012_HUMAN	D	775;609	ENSP00000286067:E775D	ENSP00000286067:E775D	E	+	3	2	C10orf12	98733462	1.000000	0.71417	0.271000	0.24616	0.089000	0.18198	1.035000	0.30216	-0.144000	0.11314	-0.254000	0.11334	GAG		0.473	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	124	1	0	2.0095e-06	1	2.2677e-06	4	124				
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(664-666)cTa>cAa		coiled-coil domain containing 62							82.0	79.0	80.0					12																	123273471		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123273471T>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.665T>A	12.37:g.123273471T>A	ENSP00000253079:p.Leu222Gln		Somatic				CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron	p.L222Q	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	1009	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		222					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.665T>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971625	0.53614	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.38722	1.12;1.12	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000094	T	0.62490	0.2432	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.64980	-0.6279	10	0.56958	D	0.05	-9.4701	12.3693	0.55246	0.0:0.0:0.0:1.0	.	222;222	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Q	222	ENSP00000253079:L222Q;ENSP00000376236:L222Q	ENSP00000253079:L222Q	L	+	2	0	CCDC62	121839424	0.927000	0.31430	0.012000	0.15200	0.685000	0.39939	4.218000	0.58554	2.179000	0.69175	0.533000	0.62120	CTA		0.358	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		4	111	0	0	0	1	0	4	111				
CRIPAK	285464	broad.mit.edu	37	4	1388456	1388456	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:1388456G>A	ENST00000324803.4	+	1	3117	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	53					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGTGGAGTGCCCGCCTGCT	0.642																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(157-159)Gcc>Acc		cysteine-rich PAK1 inhibitor							243.0	229.0	234.0					4																	1388456		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388456G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.157G>A	4.37:g.1388456G>A	ENSP00000323978:p.Ala53Thr		Somatic					p.A53T	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3117	+			53					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.157G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.360664	0.24598	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24350	1.86	1.11	0.185	0.15096	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.31383	0.321	B	0.23716	0.048	T	0.21314	-1.0249	9	0.56958	D	0.05	.	3.9067	0.09185	0.4726:0.0:0.5274:0.0	.	53	Q8N1N5	CRPAK_HUMAN	T	53;46	ENSP00000323978:A53T	ENSP00000323978:A53T	A	+	1	0	CRIPAK	1378456	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.939000	0.03933	0.054000	0.16065	-0.506000	0.04501	GCC		0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		25	90	0	0	0	1	0	25	90				
MLXIPL	51085	broad.mit.edu	37	7	73008695	73008695	+	Silent	SNP	G	G	A	rs185020196		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:73008695G>A	ENST00000313375.3	-	16	2396	c.2349C>T	c.(2347-2349)aaC>aaT	p.N783N	MLXIPL_ENST00000414749.2_Silent_p.N781N|MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000434326.1_Silent_p.N689N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000429400.2_Silent_p.N764N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18426	0.001		0.0	False		,,,				2504	0.0					ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2347-2349)aaC>aaT		MLX interacting protein-like							75.0	68.0	70.0					7																	73008695		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008695G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2349C>T	7.37:g.73008695G>A			Somatic				MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N	p.N783N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	WXS	Illumina GAIIx	Phase_I	Q9NP71	WBS14_HUMAN			16	2396	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	783					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.2349C>T	CCDS5553.1																																																																																				0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		6	127	0	0	0	1	0	6	127				
MR1	3140	broad.mit.edu	37	1	181021607	181021607	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:181021607G>C	ENST00000367580.5	+	4	846	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CTGTCATGTGGAGCACTGCGG	0.547																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(841-843)Gag>Cag		major histocompatibility complex, class I-related							61.0	65.0	63.0					1																	181021607		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021607G>C	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.841G>C	1.37:g.181021607G>C	ENSP00000356552:p.Glu281Gln		Somatic				MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000282990.6_Intron	p.E281Q	NM_001531.2	NP_001522.1	WXS	Illumina GAIIx	Phase_I	Q95460	HMR1_HUMAN			4	846	+			281			Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.841G>C	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761376	0.31228	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.03065	4.06;4.06	4.31	3.4	0.38934	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.111526	0.39544	N	0.001322	T	0.05410	0.0143	L	0.45051	1.395	0.80722	D	1	P;P	0.51240	0.93;0.943	P;P	0.51974	0.558;0.686	T	0.32107	-0.9919	10	0.02654	T	1	.	9.8978	0.41329	0.1001:0.0:0.8999:0.0	.	236;281	Q95460-2;Q95460	.;HMR1_HUMAN	Q	281;236	ENSP00000356552:E281Q;ENSP00000356551:E236Q	ENSP00000356551:E236Q	E	+	1	0	MR1	179288230	1.000000	0.71417	0.836000	0.33094	0.052000	0.14988	2.878000	0.48515	1.038000	0.40049	-0.136000	0.14681	GAG		0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		12	75	0	0	0	1	0	12	75				
YPEL1	29799	broad.mit.edu	37	22	22064992	22064992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:22064992C>T	ENST00000339468.3	-	2	425	c.42G>A	c.(40-42)ctG>ctA	p.L14L	YPEL1_ENST00000403503.1_Silent_p.L14L	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	14						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GACAGTTCGGCAGATACGCTT	0.512																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(40-42)ctG>ctA		yippee-like 1 (Drosophila)							383.0	323.0	343.0					22																	22064992		2203	4300	6503	SO:0001819	synonymous_variant	29799					nucleus		g.chr22:22064992C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.42G>A	22.37:g.22064992C>T			Somatic				YPEL1_ENST00000403503.1_Silent_p.L14L	p.L14L	NM_013313.3	NP_037445.1	WXS	Illumina GAIIx	Phase_I	O60688	YPEL1_HUMAN			2	425	-	Colorectal(54;0.105)		14					Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	c.42G>A	CCDS13794.1																																																																																				0.512	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		7	795	0	0	0	1	0	7	795				
ACACA	31	broad.mit.edu	37	17	35506818	35506818	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:35506818T>C	ENST00000394406.2	-	45	5728	c.5538A>G	c.(5536-5538)ttA>ttG	p.L1846L	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Silent_p.L1768L|ACACA_ENST00000360679.3_Silent_p.L1788L|ACACA_ENST00000353139.5_Silent_p.L1883L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1846	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTAGAATTAAGTGAGAAT	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5647-5649)ttA>ttG		acetyl-CoA carboxylase alpha	Biotin(DB00121)						102.0	103.0	103.0					17																	35506818		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35506818T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5538A>G	17.37:g.35506818T>C			Somatic				ACACA_ENST00000335166.5_Silent_p.L1768L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L	p.L1883L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			45	6130	-		Breast(25;0.00157)|Ovarian(249;0.15)	1846			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.5649A>G	CCDS11317.1																																																																																				0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	287	0	0	0	1	0	6	287				
KMT2D	8085	broad.mit.edu	37	12	49447312	49447312	+	Silent	SNP	G	G	A	rs368315432		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49447312G>A	ENST00000301067.7	-	6	785	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A262D(2)|p.A262A(2)|p.L260fs*8(1)									CACGTTTGCGGGCAGTCAGAG	0.577																																						ENST00000301067.7																			5	Substitution - Missense(2)|Substitution - coding silent(2)|Deletion - Frameshift(1)	p.A262D(2)|p.A262A(2)|p.L260fs*8(1)	kidney(4)|haematopoietic_and_lymphoid_tissue(1)								c.(784-786)gcC>gcT		lysine (K)-specific methyltransferase 2D		G		0,4116		0,0,2058	32.0	33.0	33.0		786	1.7	1.0	12		33	1,8393		0,1,4196	no	coding-synonymous	MLL2	NM_003482.3		0,1,6254	AA,AG,GG		0.0119,0.0,0.0080		262/5538	49447312	1,12509	2058	4197	6255	SO:0001819	synonymous_variant	8085							g.chr12:49447312G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.786C>T	12.37:g.49447312G>A			Somatic					p.A262A	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					6	785	-								O14687	Silent	SNP	ENST00000301067.7	37	c.786C>T	CCDS44873.1																																																																																				0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	54	0	0	0	1	0	11	54				
ZSWIM5	57643	broad.mit.edu	37	1	45484587	45484587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:45484587G>A	ENST00000359600.5	-	14	3302	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1033						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTATCCTGGTTGTAGGCC	0.577											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3097-3099)Cag>Tag		zinc finger, SWIM-type containing 5							51.0	49.0	50.0					1																	45484587		2045	4202	6247	SO:0001587	stop_gained	57643						zinc ion binding	g.chr1:45484587G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3097C>T	1.37:g.45484587G>A	ENSP00000352614:p.Gln1033*		Somatic	OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.Q1033*	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			14	3302	-	Acute lymphoblastic leukemia(166;0.155)		1033					Q5SXQ9	Nonsense_Mutation	SNP	ENST00000359600.5	37	c.3097C>T	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708284	0.98444	.	.	ENSG00000162415	ENST00000359600	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.1367	18.6023	0.91253	0.0:0.0:1.0:0.0	.	.	.	.	X	1033	.	ENSP00000352614:Q1033X	Q	-	1	0	ZSWIM5	45257174	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.729000	0.98795	2.558000	0.86282	0.555000	0.69702	CAG		0.577	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		6	313	0	0	0	1	0	6	313				
KANSL3	55683	broad.mit.edu	37	2	97297120	97297120	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:97297120C>T	ENST00000431828.1	-	3	391	c.315G>A	c.(313-315)cgG>cgA	p.R105R	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000599854.1_Silent_p.R18R|KANSL3_ENST00000435669.1_Silent_p.R18R			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	105					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGATGACATGCCGTTCACACT	0.527																																						ENST00000599854.1																			0											c.(52-54)cgG>cgA		KAT8 regulatory NSL complex subunit 3							97.0	97.0	97.0					2																	97297120		2079	4207	6286	SO:0001819	synonymous_variant	55683							g.chr2:97297120C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.315G>A	2.37:g.97297120C>T			Somatic				KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000431828.1_Silent_p.R105R|KANSL3_ENST00000487070.1_5'UTR	p.R18R	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			3	521	-			105					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	c.54G>A	CCDS46361.1																																																																																				0.527	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		3	69	0	0	0	1	0	3	69				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F	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_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_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		5	154	0	0	0	1	0	5	154				
DRP2	1821	broad.mit.edu	37	X	100506047	100506047	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:100506047A>G	ENST00000395209.3	+	16	2367	c.1840A>G	c.(1840-1842)Agg>Ggg	p.R614G	DRP2_ENST00000402866.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G|DRP2_ENST00000538510.1_Missense_Mutation_p.R614G	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	614					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTCTATCTGTAGGCAGTGCCC	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1840-1842)Agg>Ggg		dystrophin related protein 2							133.0	111.0	119.0					X																	100506047		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100506047A>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1840A>G	X.37:g.100506047A>G	ENSP00000378635:p.Arg614Gly		Somatic				DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G	p.R614G	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			16	2367	+			614					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1840A>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079449	0.76528	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	6.06	4.85	0.62838	Zinc finger, ZZ-type (4);	0.044828	0.85682	D	0.000000	D	0.82273	0.5001	N	0.12569	0.235	0.42444	D	0.992722	P	0.43231	0.801	B	0.39971	0.315	D	0.85678	0.1299	10	0.87932	D	0	-17.5148	12.4548	0.55697	0.7221:0.2779:0.0:0.0	.	614	Q13474	DRP2_HUMAN	G	614;614;536;614	ENSP00000385038:R614G;ENSP00000378635:R614G;ENSP00000444752:R536G;ENSP00000441051:R614G	ENSP00000378635:R614G	R	+	1	2	DRP2	100392703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.034000	0.64152	2.044000	0.60594	0.486000	0.48141	AGG		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		4	332	0	0	0	1	0	4	332				
MICU2	221154	broad.mit.edu	37	13	22067484	22067484	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:22067484T>C	ENST00000382374.4	-	12	1274	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	403					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.Q403Q(1)									TACTCTGATGTTGTGGTACCT	0.333																																						ENST00000382374.4																			1	Substitution - coding silent(1)	p.Q403Q(1)	kidney(1)								c.(1207-1209)caA>caG		mitochondrial calcium uptake 2							153.0	144.0	147.0					13																	22067484		2202	4297	6499	SO:0001819	synonymous_variant	221154							g.chr13:22067484T>C	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1209A>G	13.37:g.22067484T>C			Somatic				MICU2_ENST00000479790.1_5'UTR	p.Q403Q	NM_152726.2	NP_689939.1	WXS	Illumina GAIIx	Phase_I					12	1274	-								Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.1209A>G	CCDS9297.1																																																																																				0.333	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		21	85	0	0	0	1	0	21	85				
JUP	3728	broad.mit.edu	37	17	39919273	39919273	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:39919273T>G	ENST00000393931.3	-	8	1577	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	487					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.K487Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTTCACGATGGCT	0.607																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			1	Substitution - Missense(1)	p.K487Q(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1459-1461)Aag>Cag		junction plakoglobin							67.0	60.0	62.0					17																	39919273		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919273T>G	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1459A>C	17.37:g.39919273T>G	ENSP00000377508:p.Lys487Gln		Somatic				JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q	p.K487Q	NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1577	-		Breast(137;0.000162)	487					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1459A>C	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668577	0.67814	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01464	4.86;4.86;4.86	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.040858	0.85682	D	0.000000	T	0.07954	0.0199	M	0.74647	2.275	0.80722	D	1	P	0.52170	0.951	P	0.56960	0.81	T	0.00945	-1.1505	10	0.87932	D	0	-46.2343	14.3357	0.66589	0.0:0.0:0.0:1.0	.	487	P14923	PLAK_HUMAN	Q	487	ENSP00000377507:K487Q;ENSP00000311113:K487Q;ENSP00000377508:K487Q	ENSP00000311113:K487Q	K	-	1	0	JUP	37172799	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.714000	0.84703	2.165000	0.68154	0.459000	0.35465	AAG		0.607	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			19	63	0	0	0	1	0	19	63				
ENO1	2023	broad.mit.edu	37	1	8928107	8928107	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:8928107C>T	ENST00000234590.4	-	5	369	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	84					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCTGTGACGTTCAGTTTC	0.478																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(250-252)Gtc>Atc		enolase 1, (alpha)							370.0	358.0	362.0					1																	8928107		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8928107C>T	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.250G>A	1.37:g.8928107C>T	ENSP00000234590:p.Val84Ile		Somatic					p.V84I	NM_001428.3	NP_001419.1	WXS	Illumina GAIIx	Phase_I	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	5	369	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	84					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.250G>A	CCDS97.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551093	0.45383	.	.	ENSG00000074800	ENST00000234590	T	0.32023	1.47	5.93	5.93	0.95920	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.88450	2.955	0.52099	D	0.999948	B;B	0.20988	0.004;0.05	B;B	0.22601	0.01;0.04	T	0.49679	-0.8914	10	0.87932	D	0	-32.6388	18.9177	0.92512	0.0:1.0:0.0:0.0	.	51;84	A4UCS8;P06733	.;ENOA_HUMAN	I	84	ENSP00000234590:V84I	ENSP00000234590:V84I	V	-	1	0	ENO1	8850694	1.000000	0.71417	0.263000	0.24496	0.020000	0.10135	7.792000	0.85828	2.826000	0.97356	0.655000	0.94253	GTC		0.478	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		18	3348	0	0	0	1	0	18	3348				
SLCO5A1	81796	broad.mit.edu	37	8	70591810	70591810	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:70591810C>T	ENST00000260126.4	-	8	2533	c.1827G>A	c.(1825-1827)gtG>gtA	p.V609V	SLCO5A1_ENST00000530307.1_Silent_p.V554V|SLCO5A1_ENST00000524945.1_Silent_p.V609V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	609						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGGAGTGATCACTTGGCGAC	0.458																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1825-1827)gtG>gtA		solute carrier organic anion transporter family, member 5A1							149.0	139.0	142.0					8																	70591810		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70591810C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1827G>A	8.37:g.70591810C>T			Somatic				SLCO5A1_ENST00000524945.1_Silent_p.V609V|SLCO5A1_ENST00000530307.1_Silent_p.V554V	p.V609V	NM_030958.2	NP_112220.2	WXS	Illumina GAIIx	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		8	2533	-	Breast(64;0.0654)		609					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1827G>A	CCDS6205.1																																																																																				0.458	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		13	466	0	0	0	1	0	13	466				
GYS2	2998	broad.mit.edu	37	12	21733438	21733438	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:21733438C>T	ENST00000261195.2	-	2	395	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	47					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCTGAATCACAGTATAGA	0.353																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(139-141)gtG>gtA		glycogen synthase 2 (liver)							160.0	154.0	156.0					12																	21733438		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733438C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.141G>A	12.37:g.21733438C>T			Somatic					p.V47V	NM_021957.3	NP_068776.2	WXS	Illumina GAIIx	Phase_I	P54840	GYS2_HUMAN			2	395	-			47					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.141G>A	CCDS8690.1																																																																																				0.353	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		10	148	0	0	0	1	0	10	148				
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(559-561)Gca>Aca		FAST kinase domains 2							120.0	119.0	119.0					2																	207631976		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631976G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.559G>A	2.37:g.207631976G>A	ENSP00000236980:p.Ala187Thr		Somatic				FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	p.A187T	NM_014929.3	NP_055744.2	WXS	Illumina GAIIx	Phase_I	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	907	+			187					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.559G>A	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470894	0.63625	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15372	2.43;2.43;2.43	5.31	3.49	0.39957	.	0.429898	0.24048	N	0.042038	T	0.28764	0.0713	L	0.54323	1.7	0.09310	N	1	D;B	0.76494	0.999;0.349	D;B	0.65140	0.932;0.056	T	0.03818	-1.1001	10	0.34782	T	0.22	-3.9259	7.217	0.25965	0.3732:0.0:0.6268:0.0	.	187;187	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	T	187	ENSP00000236980:A187T;ENSP00000385990:A187T;ENSP00000384929:A187T	ENSP00000236980:A187T	A	+	1	0	FASTKD2	207340221	0.008000	0.16893	1.000000	0.80357	0.996000	0.88848	0.848000	0.27710	1.230000	0.43646	0.561000	0.74099	GCA		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		4	418	0	0	0	1	0	4	418				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			3502							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	172	0	0	0	1	0	4	172				
PCDHGA4	56111	broad.mit.edu	37	5	140736257	140736257	+	Missense_Mutation	SNP	A	A	G	rs572628433		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140736257A>G	ENST00000571252.1	+	1	1490	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCTTCCAGGGTGCACCT	0.512																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1489-1491)cAg>cGg									130.0	137.0	135.0					5																	140736257		2084	4242	6326	SO:0001583	missense	56111							g.chr5:140736257A>G	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1490A>G	5.37:g.140736257A>G	ENSP00000458570:p.Gln497Arg		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.Q497R	NM_018917.2	NP_061740.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1490	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1490A>G	CCDS58979.1																																																																																				0.512	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		5	301	0	0	0	1	0	5	301				
PDE4DIP	9659	broad.mit.edu	37	1	145015865	145015865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:145015865C>A	ENST00000530740.1	-	3	474	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	9					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTACCTTCTCAAAGTCTCGA	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(436-438)Gag>Tag		phosphodiesterase 4D interacting protein							522.0	616.0	584.0					1																	145015865		2203	4300	6503	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015865C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.436G>T	1.37:g.145015865C>A	ENSP00000435654:p.Glu146*		Somatic				PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*	p.E146*			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	474	-			9					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000530740.1	37	c.436G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.112964	0.97296	.	.	ENSG00000178104	ENST00000313382;ENST00000530740;ENST00000369359;ENST00000530078;ENST00000369348;ENST00000531369;ENST00000493130;ENST00000478649	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.2417	0.65961	0.0:1.0:0.0:0.0	.	.	.	.	X	75;146;146;75;146;76;75;75	.	ENSP00000327209:E75X	E	-	1	0	PDE4DIP	143727222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.560000	0.53763	2.727000	0.93392	0.655000	0.94253	GAG		0.443	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		15	1884	1	0	7.48243e-07	1	8.53927e-07	15	1884				
HOXD13	3239	broad.mit.edu	37	2	176959247	176959247	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:176959247G>T	ENST00000392539.3	+	2	821	c.821G>T	c.(820-822)cGa>cTa	p.R274L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	274					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGCGTCTACCGAAGAGGGAGG	0.468			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(820-822)cGa>cTa		homeobox D13							109.0	99.0	102.0					2																	176959247		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959247G>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.821G>T	2.37:g.176959247G>T	ENSP00000376322:p.Arg274Leu		Somatic					p.R274L	NM_000523.3	NP_000514.2	WXS	Illumina GAIIx	Phase_I	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	821	+			274						Missense_Mutation	SNP	ENST00000392539.3	37	c.821G>T	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090973	0.76756	.	.	ENSG00000128714	ENST00000392539	D	0.95756	-3.8	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.53938	D	0.000051	D	0.97898	0.9309	M	0.85373	2.75	0.58432	D	0.999994	D	0.76494	0.999	D	0.76575	0.988	D	0.98455	1.0593	10	0.87932	D	0	.	18.8301	0.92135	0.0:0.0:1.0:0.0	.	274	P35453	HXD13_HUMAN	L	274	ENSP00000376322:R274L	ENSP00000376322:R274L	R	+	2	0	HOXD13	176667493	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	7.356000	0.79445	2.767000	0.95098	0.655000	0.94253	CGA		0.468	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			7	78	1	0	0.0293803	1	0.0295265	7	78				
SLC6A5	9152	broad.mit.edu	37	11	20658745	20658745	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:20658745T>C	ENST00000525748.1	+	12	2038	c.1765T>C	c.(1765-1767)Tcc>Ccc	p.S589P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	589					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATAGTGACCTCCATCTCAGA	0.483																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1765-1767)Tcc>Ccc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						213.0	184.0	194.0					11																	20658745		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658745T>C	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1765T>C	11.37:g.20658745T>C	ENSP00000434364:p.Ser589Pro		Somatic				SLC6A5_ENST00000528440.1_3'UTR	p.S589P	NM_004211.3	NP_004202.2	WXS	Illumina GAIIx	Phase_I	Q9Y345	SC6A5_HUMAN			12	2038	+			589					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1765T>C	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258814	0.80246	.	.	ENSG00000165970	ENST00000525748	T	0.74315	-0.83	5.67	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.27053	0.805	0.58432	D	0.999999	D	0.64830	0.994	D	0.63597	0.916	T	0.78178	-0.2305	10	0.72032	D	0.01	.	12.8084	0.57626	0.0:0.0:0.1366:0.8634	.	589	Q9Y345	SC6A5_HUMAN	P	589	ENSP00000434364:S589P	ENSP00000434364:S589P	S	+	1	0	SLC6A5	20615321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.998000	0.70653	0.937000	0.37394	0.533000	0.62120	TCC		0.483	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		4	460	0	0	0	1	0	4	460				
THADA	63892	broad.mit.edu	37	2	43799003	43799003	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:43799003T>A	ENST00000405006.4	-	13	2260		c.e13-2		THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000403856.1_Splice_Site	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated											breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.e14-2		thyroid adenoma associated							97.0	97.0	97.0					2																	43799003		1830	4086	5916	SO:0001630	splice_region_variant	63892						binding	g.chr2:43799003T>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1909-2A>T	2.37:g.43799003T>A			Somatic				THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			14	2056	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)						A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37		CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.918555	0.52546	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2924	0.73875	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THADA	43652507	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.820000	0.69250	2.073000	0.62155	0.482000	0.46254	.		0.318	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Intron	4	121	0	0	0	1	0	4	121				
ZAN	7455	broad.mit.edu	37	7	100361427	100361427	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:100361427A>G	ENST00000348028.3	+	0	4151				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCTCTTGCAGGTGTCAGAA	0.587																																						ENST00000542585.1																			2	Unknown(2)	p.?(2)	kidney(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							113.0	109.0	111.0					7																	100361427		1971	4174	6145			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361427A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361427A>G			Somatic				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4134	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	19.03	3.747498	0.69533	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4288	0.44395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZAN	100199363	0.995000	0.38212	0.895000	0.35142	0.526000	0.34562	4.430000	0.59907	1.893000	0.54813	0.454000	0.30748	.		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		24	100	0	0	0	1	0	24	100				
RRM1	6240	broad.mit.edu	37	11	4153518	4153518	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:4153518A>T	ENST00000300738.5	+	16	1976	c.1772A>T	c.(1771-1773)tAt>tTt	p.Y591F	RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F|RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	591					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTCTTTAGGTATGGTATAAGA	0.408																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1771-1773)tAt>tTt		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						100.0	92.0	95.0					11																	4153518		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4153518A>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1772A>T	11.37:g.4153518A>T	ENSP00000300738:p.Tyr591Phe		Somatic				RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F	p.Y591F	NM_001033.3	NP_001024.1	WXS	Illumina GAIIx	Phase_I	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	16	1976	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	591					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1772A>T	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373171	0.61624	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.94	4.94	0.65067	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.196102	0.44902	D	0.000406	T	0.39358	0.1075	L	0.49571	1.57	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26985	-1.0087	10	0.52906	T	0.07	-10.1654	13.7227	0.62737	1.0:0.0:0.0:0.0	.	591	P23921	RIR1_HUMAN	F	591;494;504;369;369;253	ENSP00000300738:Y591F;ENSP00000390539:Y494F;ENSP00000431464:Y369F;ENSP00000442148:Y253F	ENSP00000300738:Y591F	Y	+	2	0	RRM1	4110094	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.887000	0.69751	1.979000	0.57680	0.455000	0.32223	TAT		0.408	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		4	125	0	0	0	1	0	4	125				
MYO3A	53904	broad.mit.edu	37	10	26492018	26492018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:26492018G>A	ENST00000265944.5	+	34	4878	c.4712G>A	c.(4711-4713)tGt>tAt	p.C1571Y	MYO3A_ENST00000543632.1_Intron|MYO3A_ENST00000478093.1_3'UTR	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1571					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAATCAATGTATTAAGGCT	0.318																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4711-4713)tGt>tAt		myosin IIIA							77.0	73.0	75.0					10																	26492018		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26492018G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4712G>A	10.37:g.26492018G>A	ENSP00000265944:p.Cys1571Tyr		Somatic				MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron	p.C1571Y	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			34	4878	+			1571					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4712G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.578874	0.00879	.	.	ENSG00000095777	ENST00000265944	T	0.76578	-1.03	5.11	2.22	0.28083	.	1.319880	0.04324	N	0.351257	T	0.55146	0.1902	N	0.08118	0	0.20926	N	0.999823	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.02654	T	1	.	6.0305	0.19677	0.1726:0.1539:0.6736:0.0	.	1571	Q8NEV4	MYO3A_HUMAN	Y	1571	ENSP00000265944:C1571Y	ENSP00000265944:C1571Y	C	+	2	0	MYO3A	26532024	0.000000	0.05858	0.186000	0.23195	0.935000	0.57460	0.111000	0.15458	0.257000	0.21650	-0.215000	0.12644	TGT		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		32	145	0	0	0	1	0	32	145				
CTC-260E6.6	0	broad.mit.edu	37	19	20369991	20369991	+	RNA	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:20369991T>C	ENST00000593655.1	-	0	199																											GTCATCACGGTTGAAACGAGA	0.413																																						ENST00000593655.1																			0																																																			0							g.chr19:20369991T>C																													19.37:g.20369991T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			17	117	0	0	0	1	0	17	117				
SEC16A	9919	broad.mit.edu	37	9	139371797	139371797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:139371797C>T	ENST00000313050.7	-	1	344	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAAGCAAACCGGGGTGCTGA	0.587																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(271-273)Ggt>Agt		SEC16 homolog A (S. cerevisiae)							71.0	76.0	74.0					9																	139371797		1979	4143	6122	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371797C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.271G>A	9.37:g.139371797C>T	ENSP00000325827:p.Gly91Ser		Somatic					p.G91S	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	344	-		Myeloproliferative disorder(178;0.0511)	2055					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.271G>A	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597270	0.28445	.	.	ENSG00000148396	ENST00000313050	T	0.21191	2.02	5.69	4.79	0.61399	.	.	.	.	.	T	0.18130	0.0435	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.49361	0.608	T	0.00872	-1.1532	8	.	.	.	.	11.0745	0.48023	0.0:0.9146:0.0:0.0854	.	91	F1T0I1	.	S	91	ENSP00000325827:G91S	.	G	-	1	0	SEC16A	138491618	0.000000	0.05858	0.094000	0.20943	0.006000	0.05464	0.371000	0.20450	2.692000	0.91855	0.655000	0.94253	GGT		0.587	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		4	358	0	0	0	1	0	4	358				
BAIAP2L1	55971	broad.mit.edu	37	7	97949408	97949408	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:97949408G>A	ENST00000005260.8	-	5	525	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	BAIAP2L1_ENST00000462558.1_5'UTR|RP11-307C18.1_ENST00000610062.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	104	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTTCTCCAGCTCATGGATA	0.403																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(310-312)Ctg>Ttg		BAI1-associated protein 2-like 1							129.0	117.0	121.0					7																	97949408		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97949408G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.310C>T	7.37:g.97949408G>A			Somatic				BAIAP2L1_ENST00000462558.1_5'UTR	p.L104L	NM_018842.4	NP_061330.2	WXS	Illumina GAIIx	Phase_I	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	525	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		104			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.310C>T	CCDS34687.1																																																																																				0.403	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		5	933	0	0	0	1	0	5	933				
RNPEP	6051	broad.mit.edu	37	1	201970826	201970826	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:201970826G>A	ENST00000295640.4	+	8	1400	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D414N|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	453					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CATCTTAGCCGATGACTTTCT	0.488																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1357-1359)Gat>Aat		arginyl aminopeptidase (aminopeptidase B)							141.0	142.0	142.0					1																	201970826		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201970826G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1357G>A	1.37:g.201970826G>A	ENSP00000295640:p.Asp453Asn		Somatic				RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D414N	p.D453N	NM_020216.3	NP_064601.3	WXS	Illumina GAIIx	Phase_I	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	8	1400	+			453					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1357G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562169	0.45590	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.71	5.71	0.89125	.	0.257712	0.36815	N	0.002386	T	0.08935	0.0221	L	0.41961	1.31	0.80722	D	1	B;B	0.20052	0.041;0.005	B;B	0.19666	0.026;0.011	T	0.19844	-1.0293	10	0.33141	T	0.24	-5.9618	18.6362	0.91379	0.0:0.0:1.0:0.0	.	461;453	Q7RU04;Q9H4A4	.;AMPB_HUMAN	N	453;414;322;161	ENSP00000295640:D453N;ENSP00000356255:D414N;ENSP00000389602:D322N;ENSP00000407614:D161N	ENSP00000295640:D453N	D	+	1	0	RNPEP	200237449	1.000000	0.71417	0.897000	0.35233	0.140000	0.21249	7.870000	0.87175	2.684000	0.91462	0.561000	0.74099	GAT		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		4	348	0	0	0	1	0	4	348				
PCDHGB2	56103	broad.mit.edu	37	5	140740059	140740059	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140740059A>G	ENST00000522605.1	+	1	357	c.357A>G	c.(355-357)atA>atG	p.I119M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTACATAGCAGTAATTG	0.383																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(355-357)atA>atG									55.0	56.0	56.0					5																	140740059		1826	4090	5916	SO:0001583	missense	56103							g.chr5:140740059A>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.357A>G	5.37:g.140740059A>G	ENSP00000429018:p.Ile119Met		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.I119M	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	357	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.357A>G	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827236	0.32329	.	.	ENSG00000253910	ENST00000522605	T	0.55234	0.53	5.12	2.67	0.31697	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.58323	0.2114	M	0.68952	2.095	0.09310	N	1	P;P	0.49253	0.921;0.913	P;P	0.56823	0.807;0.568	T	0.53927	-0.8369	9	0.87932	D	0	.	0.4876	0.00559	0.456:0.1532:0.1636:0.2272	.	119;119	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	119	ENSP00000429018:I119M	ENSP00000429018:I119M	I	+	3	3	PCDHGB2	140720243	0.000000	0.05858	0.836000	0.33094	0.716000	0.41182	-3.310000	0.00517	0.850000	0.35239	0.460000	0.39030	ATA		0.383	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		5	776	0	0	0	1	0	5	776				
PABPC3	5042	broad.mit.edu	37	13	25671044	25671044	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:25671044A>G	ENST00000281589.3	+	1	745	c.708A>G	c.(706-708)gtA>gtG	p.V236V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	236	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGATTTGTAAGCTTTGAAA	0.418																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(706-708)gtA>gtG		poly(A) binding protein, cytoplasmic 3							92.0	85.0	87.0					13																	25671044		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671044A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.708A>G	13.37:g.25671044A>G			Somatic					p.V236V	NM_030979.2	NP_112241.2	WXS	Illumina GAIIx	Phase_I	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	745	+		Lung SC(185;0.0225)|Breast(139;0.0602)	236			RRM 3.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.708A>G	CCDS9311.1																																																																																				0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		8	1400	0	0	0	1	0	8	1400				
ADAMTS18	170692	broad.mit.edu	37	16	77331192	77331192	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:77331192G>A	ENST00000282849.5	-	18	3213	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	932	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTACTAAGCCGGGCAGGAGAA	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2794-2796)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							174.0	168.0	170.0					16																	77331192		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331192G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2795C>T	16.37:g.77331192G>A	ENSP00000282849:p.Pro932Leu		Somatic					p.P932L	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			18	3213	-			932			TSP type-1 2.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2795C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203855	0.95033	.	.	ENSG00000140873	ENST00000282849	T	0.59502	0.26	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	M	0.81942	2.565	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55112	0.769;0.714	T	0.76342	-0.2994	10	0.66056	D	0.02	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	932;932	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	932	ENSP00000282849:P932L	ENSP00000282849:P932L	P	-	2	0	ADAMTS18	75888693	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.081000	0.76844	2.882000	0.98803	0.655000	0.94253	CCG		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	436	0	0	0	1	0	4	436				
PCDHB11	56125	broad.mit.edu	37	5	140580124	140580124	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140580124G>A	ENST00000354757.3	+	1	777	c.777G>A	c.(775-777)tcG>tcA	p.S259S	PCDHB11_ENST00000536699.1_De_novo_Start_InFrame	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTTGGCTCGCTGATTTTGA	0.438																																						ENST00000536699.1																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63															189.0	192.0	191.0					5																	140580124		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580124G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.777G>A	5.37:g.140580124G>A			Somatic				PCDHB11_ENST00000354757.3_Silent_p.S259S				WXS	Illumina GAIIx	Phase_I	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	245	+								B4DSF7|Q2M223	Translation_Start_Site	SNP	ENST00000354757.3	37		CCDS4253.1																																																																																				0.438	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	352	0	0	0	1	0	5	352				
TBX1	6899	broad.mit.edu	37	22	19766760	19766760	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:19766760G>T	ENST00000329705.7	+	9	1156	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	343					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TGTCCTGAAGGACAAGGAAGT	0.537																																						ENST00000329705.7																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1027-1029)Gac>Tac		T-box 1							85.0	71.0	76.0					22																	19766760		2203	4300	6503	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19766760G>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1027G>T	22.37:g.19766760G>T	ENSP00000331176:p.Asp343Tyr		Somatic				TBX1_ENST00000359500.3_Intron	p.D343Y	NM_080646.1	NP_542377.1	WXS	Illumina GAIIx	Phase_I	O43435	TBX1_HUMAN			9	1156	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	343					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.1027G>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	G	6.531	0.466138	0.12402	.	.	ENSG00000184058	ENST00000329705	D	0.87029	-2.2	1.66	0.607	0.17564	.	.	.	.	.	T	0.66046	0.2750	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.31614	0.133	T	0.61043	-0.7142	9	0.49607	T	0.09	.	3.8956	0.09138	0.2343:0.0:0.7657:0.0	.	343	O43435	TBX1_HUMAN	Y	343	ENSP00000331176:D343Y	ENSP00000331176:D343Y	D	+	1	0	TBX1	18146760	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.159000	0.10056	0.271000	0.22005	0.505000	0.49811	GAC		0.537	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		19	148	1	0	3.51602e-12	1	4.22759e-12	19	148				
C1orf43	25912	broad.mit.edu	37	1	154184845	154184845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154184845G>A	ENST00000368521.5	-	6	715	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	173						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCATTCTGGCCAAAGACC	0.522																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(517-519)Cag>Tag		chromosome 1 open reading frame 43							134.0	128.0	130.0					1																	154184845		2203	4300	6503	SO:0001587	stop_gained	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154184845G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.517C>T	1.37:g.154184845G>A	ENSP00000357507:p.Gln173*		Somatic				C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*	p.Q173*	NM_001098616.1	NP_001092086.1	WXS	Illumina GAIIx	Phase_I	Q9BWL3	CA043_HUMAN			6	715	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		173					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Nonsense_Mutation	SNP	ENST00000368521.5	37	c.517C>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118491	0.94385	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	.	0.160092	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-21.7373	11.6861	0.51487	0.0:0.0:0.7292:0.2708	.	.	.	.	X	139;173;121;155;173;139	.	ENSP00000271925:Q139X	Q	-	1	0	C1orf43	152451469	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.161000	0.50747	2.814000	0.96858	0.585000	0.79938	CAG		0.522	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		6	1083	0	0	0	1	0	6	1083				
GNB5	10681	broad.mit.edu	37	15	52427899	52427899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:52427899G>T	ENST00000261837.7	-	8	747	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000560613.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	228					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGCAGCAGCTGCCCGCTCTCC	0.597																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(682-684)Cag>Aag		guanine nucleotide binding protein (G protein), beta 5							79.0	76.0	77.0					15																	52427899		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52427899G>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.682C>A	15.37:g.52427899G>T	ENSP00000261837:p.Gln228Lys		Somatic				CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR	p.Q228K	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	O14775	GBB5_HUMAN		all cancers(107;0.0163)	8	747	-			228					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.682C>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393435	0.83011	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.57595	0.39	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071841	0.64402	D	0.000015	T	0.49966	0.1588	N	0.10945	0.07	0.80722	D	1	B;P	0.51351	0.016;0.944	B;P	0.53549	0.026;0.729	T	0.58685	-0.7593	10	0.59425	D	0.04	-15.8994	19.1927	0.93674	0.0:0.0:1.0:0.0	.	228;116	O14775;O14775-3	GBB5_HUMAN;.	K	228;186;26;116	ENSP00000261837:Q228K	ENSP00000261837:Q228K	Q	-	1	0	GNB5	50215191	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.290000	0.96065	2.516000	0.84829	0.650000	0.86243	CAG		0.597	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			8	209	1	0	1.76689e-08	1	2.06308e-08	8	209				
KRT85	3891	broad.mit.edu	37	12	52755264	52755264	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:52755264G>T	ENST00000257901.3	-	8	1392	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	KRT85_ENST00000544265.1_Silent_p.G227G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	439	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTCACAGAGCCCACACCTT	0.463																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1315-1317)ggC>ggA		keratin 85							164.0	151.0	155.0					12																	52755264		2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52755264G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1317C>A	12.37:g.52755264G>T			Somatic				KRT85_ENST00000544265.1_Silent_p.G227G	p.G439G	NM_002283.3	NP_002274.1	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	8	1392	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		439			Tail.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.1317C>A	CCDS8824.1																																																																																				0.463	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		130	822	1	0	9.36667e-95	1	1.16794e-94	130	822				
PC	5091	broad.mit.edu	37	11	66617533	66617533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:66617533C>A	ENST00000393958.2	-	19	2866	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_Nonsense_Mutation_p.G45*|PC_ENST00000393960.1_Nonsense_Mutation_p.G925*	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	925					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGCTCAATCCATTCTGCACC	0.637																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2773-2775)Gga>Tga		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						83.0	79.0	80.0					11																	66617533		2200	4295	6495	SO:0001587	stop_gained	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617533C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2773G>T	11.37:g.66617533C>A	ENSP00000377530:p.Gly925*		Somatic				PC_ENST00000529047.1_Nonsense_Mutation_p.G45*|PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925*	p.G925*	NM_001040716.1	NP_001035806.1	WXS	Illumina GAIIx	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	20	3054	-		Melanoma(852;0.0525)	925					B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	37	c.2773G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	40	8.191907	0.98699	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	.	.	.	5.19	5.19	0.71726	.	0.355710	0.31834	N	0.006990	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-40.5902	16.2579	0.82526	0.0:1.0:0.0:0.0	.	.	.	.	X	45;925;925;925	.	ENSP00000377527:G925X	G	-	1	0	PC	66374109	0.985000	0.35326	0.964000	0.40570	0.567000	0.35839	2.050000	0.41297	2.705000	0.92388	0.462000	0.41574	GGA		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		3	61	1	0	6.4e-05	1	6.98811e-05	3	61				
FCAR	2204	broad.mit.edu	37	19	55401088	55401088	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:55401088C>A	ENST00000355524.3	+	5	733	c.723C>A	c.(721-723)ctC>ctA	p.L241L	FCAR_ENST00000353758.4_Silent_p.L132L|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000391723.3_Missense_Mutation_p.L205I	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	241					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCGTGGCTCTCTTGGCCATAC	0.537																																						ENST00000391723.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(613-615)Ctt>Att		Fc fragment of IgA, receptor for							264.0	256.0	259.0					19																	55401088		2203	4300	6503	SO:0001819	synonymous_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401088C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.723C>A	19.37:g.55401088C>A			Somatic				FCAR_ENST00000353758.4_Silent_p.L132L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L	p.L205I	NM_133274.2	NP_579808.1	WXS	Illumina GAIIx	Phase_I	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	613	+			0					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.613C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437441	0.25900	.	.	ENSG00000186431	ENST00000391723	T	0.00587	6.38	3.9	1.51	0.23008	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.19575	N	0.999969	D	0.58268	0.982	P	0.51193	0.662	T	0.30995	-0.9959	8	0.02654	T	1	.	6.1181	0.20137	0.2175:0.5714:0.2111:0.0	.	205	Q92588	.	I	205	ENSP00000375603:L205I	ENSP00000375603:L205I	L	+	1	0	FCAR	60092900	0.090000	0.21635	0.084000	0.20598	0.594000	0.36715	0.517000	0.22832	0.960000	0.38005	0.557000	0.71058	CTT		0.537	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		6	322	1	0	8.12818e-05	1	8.82738e-05	6	322				
VEZT	55591	broad.mit.edu	37	12	95694432	95694432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:95694432G>T	ENST00000436874.1	+	12	2428	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	775					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAATAAAAATGAGATAGAAGA	0.368																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(2323-2325)Gag>Tag		vezatin, adherens junctions transmembrane protein							23.0	23.0	23.0					12																	95694432		1815	4065	5880	SO:0001587	stop_gained	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694432G>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2323G>T	12.37:g.95694432G>T	ENSP00000410083:p.Glu775*		Somatic				VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*	p.E775*	NM_017599.3	NP_060069.3	WXS	Illumina GAIIx	Phase_I	Q9HBM0	VEZA_HUMAN			12	2428	+			775					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Nonsense_Mutation	SNP	ENST00000436874.1	37	c.2323G>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831826	0.32421	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397796	.	.	.	5.65	4.77	0.60923	.	0.657220	0.16424	N	0.215050	.	.	.	.	.	.	0.30508	N	0.769683	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-38.923	6.7953	0.23722	0.0717:0.1255:0.6732:0.1296	.	.	.	.	X	775;727;775	.	ENSP00000261219:E727X	E	+	1	0	VEZT	94218563	0.771000	0.28555	0.004000	0.12327	0.001000	0.01503	1.957000	0.40392	1.399000	0.46721	-0.133000	0.14855	GAG		0.368	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		3	32	1	0	0.004672	1	0.00486466	3	32				
TLR7	51284	broad.mit.edu	37	X	12903798	12903798	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:12903798A>G	ENST00000380659.3	+	3	310	c.171A>G	c.(169-171)acA>acG	p.T57T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	57					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGCATTTGACAGAAATTCCTG	0.498																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(169-171)acA>acG		toll-like receptor 7	Imiquimod(DB00724)						162.0	147.0	152.0					X																	12903798		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903798A>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.171A>G	X.37:g.12903798A>G			Somatic					p.T57T	NM_016562.3	NP_057646.1	WXS	Illumina GAIIx	Phase_I	Q9NYK1	TLR7_HUMAN			3	310	+			57					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.171A>G	CCDS14151.1																																																																																				0.498	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		5	787	0	0	0	1	0	5	787				
CLK4	57396	broad.mit.edu	37	5	178050411	178050411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:178050411G>A	ENST00000316308.4	-	2	175	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	3					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		CTTTTGGAATGCCGCATCTGT	0.378																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(7-9)Cat>Tat		CDC-like kinase 4							124.0	107.0	113.0					5																	178050411		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178050411G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.7C>T	5.37:g.178050411G>A	ENSP00000316948:p.His3Tyr		Somatic				CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	p.H3Y	NM_020666.2	NP_065717.1	WXS	Illumina GAIIx	Phase_I	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	2	175	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	3						Missense_Mutation	SNP	ENST00000316308.4	37	c.7C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165622	0.57476	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.08282	3.11	5.56	5.56	0.83823	.	0.106561	0.64402	D	0.000006	T	0.29458	0.0734	M	0.78637	2.42	0.33186	D	0.550257	B;D;P;B;D	0.63880	0.376;0.993;0.865;0.376;0.993	B;P;P;B;D	0.70227	0.133;0.838;0.519;0.133;0.968	T	0.33727	-0.9857	10	0.54805	T	0.06	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	3;3;3;3;3	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	Y	3	ENSP00000316948:H3Y	ENSP00000316948:H3Y	H	-	1	0	CLK4	177983017	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.771000	0.62318	2.617000	0.88574	0.491000	0.48974	CAT		0.378	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			4	157	0	0	0	1	0	4	157				
TRPM3	80036	broad.mit.edu	37	9	73225581	73225581	+	Missense_Mutation	SNP	C	C	T	rs182875508		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:73225581C>T	ENST00000377111.2	-	18	2818	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377110.3_Missense_Mutation_p.G859S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTTTTCTGCCGAGGGGGATT	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20177	0.0		0.0	False		,,,				2504	0.0					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2575-2577)Ggc>Agc		transient receptor potential cation channel, subfamily M, member 3		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	211.0	189.0	197.0		2575,2116,2152,2086,2122,2191,2161	6.2	1.0	9		197	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	859/1708,706/1555,718/1567,696/1545,708/1557,731/1580,721/1570	73225581	1,13005	2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73225581C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2575G>A	9.37:g.73225581C>T	ENSP00000366315:p.Gly859Ser		Somatic				TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S	p.G859S	NM_001007471.2	NP_001007472.2	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			18	2818	-			884					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2575G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.47|12.47	1.948526|1.948526	0.34377|0.34377	2.27E-4|2.27E-4	0.0|0.0	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999996|0.999996	B;B;D;P;B;D;P;P|.	0.76494|.	0.407;0.108;0.999;0.48;0.285;0.964;0.74;0.882|.	B;B;D;B;B;P;B;B|.	0.68621|.	0.165;0.024;0.959;0.079;0.047;0.552;0.269;0.206|.	T|T	0.65014|0.65014	-0.6271|-0.6271	10|5	0.16896|.	T|.	0.51|.	-26.6526|-26.6526	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	859;859;849;863;721;718;831;706|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	S|Q	859;859;731;721;718;863;718;706;731;721;886|707	ENSP00000366315:G859S;ENSP00000366314:G859S;ENSP00000366310:G731S;ENSP00000354066:G721S;ENSP00000366309:G718S;ENSP00000350140:G863S;ENSP00000386127:G718S;ENSP00000379581:G706S;ENSP00000379587:G731S;ENSP00000350791:G721S;ENSP00000389542:G886S|.	ENSP00000350140:G863S|.	G|R	-|-	1|2	0|0	TRPM3|TRPM3	72415401|72415401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.089000|6.089000	0.71384|0.71384	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		6	623	0	0	0	1	0	6	623				
CNNM4	26504	broad.mit.edu	37	2	97427127	97427127	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:97427127G>A	ENST00000377075.2	+	1	489	c.391G>A	c.(391-393)Gtg>Atg	p.V131M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	131					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						CACGTCCGGCGTGCTGGTGGT	0.657																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(391-393)Gtg>Atg		cyclin M4							65.0	66.0	66.0					2																	97427127		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427127G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.391G>A	2.37:g.97427127G>A	ENSP00000366275:p.Val131Met		Somatic					p.V131M	NM_020184.3	NP_064569.3	WXS	Illumina GAIIx	Phase_I	Q6P4Q7	CNNM4_HUMAN			1	489	+			131					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.391G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320433	0.23994	.	.	ENSG00000158158	ENST00000377075	T	0.74106	-0.81	4.72	-3.69	0.04450	.	0.415298	0.25584	N	0.029673	T	0.32823	0.0842	N	0.01003	-1.06	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.02533	-1.1145	10	0.21540	T	0.41	-25.8303	3.4764	0.07586	0.2594:0.1379:0.4673:0.1353	.	131	Q6P4Q7	CNNM4_HUMAN	M	131	ENSP00000366275:V131M	ENSP00000366275:V131M	V	+	1	0	CNNM4	96790854	0.736000	0.28164	0.997000	0.53966	0.996000	0.88848	0.077000	0.14738	-0.093000	0.12396	0.550000	0.68814	GTG		0.657	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		3	108	0	0	0	1	0	3	108				
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(487-489)atC>atT		olfactory receptor, family 56, subfamily A, member 3							118.0	119.0	119.0					11																	5969065		2182	4293	6475	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969065C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.489C>T	11.37:g.5969065C>T			Somatic					p.I163I	NM_001003443.2	NP_001003443.2	WXS	Illumina GAIIx	Phase_I	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	496	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	163					A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.489C>T	CCDS41614.1																																																																																				0.443	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		6	236	0	0	0	1	0	6	236				
MLF2	8079	broad.mit.edu	37	12	6859100	6859100	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:6859100C>A	ENST00000203630.5	-	7	1117	c.473G>T	c.(472-474)cGg>cTg	p.R158L	MLF2_ENST00000435120.1_Missense_Mutation_p.R158L|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R158L|MLF2_ENST00000539187.1_Missense_Mutation_p.R158L			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	158					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						AGCCCTGTCCCGGATGTGATG	0.597																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(472-474)cGg>cTg		myeloid leukemia factor 2							135.0	101.0	113.0					12																	6859100		2203	4300	6503	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859100C>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.473G>T	12.37:g.6859100C>A	ENSP00000203630:p.Arg158Leu		Somatic				MLF2_ENST00000542154.1_Missense_Mutation_p.R158L|MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L	p.R158L			WXS	Illumina GAIIx	Phase_I	Q15773	MLF2_HUMAN			7	1117	-			158						Missense_Mutation	SNP	ENST00000203630.5	37	c.473G>T	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476972|4.476972	0.84640|0.84640	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.83|5.83	4.94|4.94	0.65067|0.65067	.|.	.|0.052679	.|0.85682	.|D	.|0.000000	T|T	0.56470|0.56470	0.1987|0.1987	L|L	0.46157|0.46157	1.445|1.445	0.52099|0.52099	D|D	0.999947|0.999947	.|P	.|0.43519	.|0.809	.|B	.|0.43916	.|0.436	T|T	0.55704|0.55704	-0.8099|-0.8099	6|9	0.87932|0.35671	D|T	0|0.21	.|.	16.4228|16.4228	0.83772|0.83772	0.1325:0.8675:0.0:0.0|0.1325:0.8675:0.0:0.0	.|.	.|158	.|Q15773	.|MLF2_HUMAN	W|L	169|158	.|.	ENSP00000439789:G169W|ENSP00000203630:R158L	G|R	-|-	1|2	0|0	MLF2|MLF2	6729361|6729361	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	7.487000|7.487000	0.81328|0.81328	1.458000|1.458000	0.47871|0.47871	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.597	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			7	183	1	0	0.0293803	1	0.0295265	7	183				
MAP4	4134	broad.mit.edu	37	3	47958049	47958049	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:47958049T>A	ENST00000360240.6	-	7	1786	c.1268A>T	c.(1267-1269)gAc>gTc	p.D423V	MAP4_ENST00000395734.3_Missense_Mutation_p.D423V|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.D440V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	423	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGATATAATGTCATTAGCCTG	0.493																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1318-1320)gAc>gTc		microtubule-associated protein 4							133.0	120.0	124.0					3																	47958049		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958049T>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1268A>T	3.37:g.47958049T>A	ENSP00000353375:p.Asp423Val		Somatic				MAP4_ENST00000395734.3_Missense_Mutation_p.D423V|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000383737.4_Intron	p.D440V			WXS	Illumina GAIIx	Phase_I	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1406	-			423			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1319A>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106667	0.37145	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.14144	2.65;2.53;2.59	4.09	4.09	0.47781	.	.	.	.	.	T	0.35278	0.0926	M	0.79123	2.44	0.32916	D	0.515196	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.968;0.953	T	0.48958	-0.8988	9	0.62326	D	0.03	-3.6562	9.7638	0.40548	0.0:0.0:0.0:1.0	.	400;423;423	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	V	423;440;423	ENSP00000379083:D423V;ENSP00000407602:D440V;ENSP00000353375:D423V	ENSP00000353375:D423V	D	-	2	0	MAP4	47933053	0.069000	0.21087	0.004000	0.12327	0.002000	0.02628	3.790000	0.55461	2.071000	0.62044	0.459000	0.35465	GAC		0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		6	565	0	0	0	1	0	6	565				
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58.0	58.0	58.0					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T			Somatic				ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	WXS	Illumina GAIIx	Phase_I					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		3	52	0	0	0	1	0	3	52				
ESYT1	23344	broad.mit.edu	37	12	56531150	56531150	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56531150G>A	ENST00000394048.5	+	17	2195	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E	ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	644	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						AGCCAGTTTGGGACTGAGGTG	0.547																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1930-1932)gGg>gAg		extended synaptotagmin-like protein 1							101.0	101.0	101.0					12																	56531150		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531150G>A	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.1931G>A	12.37:g.56531150G>A	ENSP00000377612:p.Gly644Glu		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E	p.G644E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			17	2195	+			644			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1931G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676946	0.67928	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.55413	0.52;0.52;0.52	5.07	4.17	0.49024	C2 calcium/lipid-binding domain, CaLB (1);	0.115890	0.56097	N	0.000027	T	0.48187	0.1486	N	0.17474	0.49	0.41670	D	0.989231	D;D	0.76494	0.999;0.997	D;D	0.71414	0.973;0.942	T	0.47573	-0.9107	10	0.02654	T	1	-21.3124	10.8306	0.46659	0.0892:0.0:0.9108:0.0	.	654;644	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	E	644;598;654;654	ENSP00000377612:G644E;ENSP00000267113:G654E;ENSP00000445952:G654E	ENSP00000267113:G654E	G	+	2	0	ESYT1	54817417	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.576000	0.53878	1.271000	0.44313	0.655000	0.94253	GGG		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		3	124	0	0	0	1	0	3	124				
SLC5A1	6523	broad.mit.edu	37	22	32495254	32495254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:32495254C>A	ENST00000266088.4	+	12	1615	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	455					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCTTCGATTACATCCAGTCCA	0.502																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1363-1365)taC>taA		solute carrier family 5 (sodium/glucose cotransporter), member 1							251.0	231.0	238.0					22																	32495254		2203	4300	6503	SO:0001587	stop_gained	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495254C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1365C>A	22.37:g.32495254C>A	ENSP00000266088:p.Tyr455*		Somatic				SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	p.Y455*	NM_000343.3	NP_000334.1	WXS	Illumina GAIIx	Phase_I	P13866	SC5A1_HUMAN			12	1615	+			455					B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	c.1365C>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	38	6.801723	0.97849	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	.	.	.	5.29	-2.38	0.06622	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9864	0.53151	0.0:0.5091:0.0:0.4908	.	.	.	.	X	455;328	.	ENSP00000266088:Y455X	Y	+	3	2	SLC5A1	30825254	0.971000	0.33674	0.994000	0.49952	0.989000	0.77384	0.200000	0.17257	-0.126000	0.11682	-0.262000	0.10625	TAC		0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		6	599	1	0	0.00307968	1	0.00324008	6	599				
ERRFI1	54206	broad.mit.edu	37	1	8073803	8073804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:8073803_8073804insG	ENST00000377482.5	-	4	1078_1079	c.855_856insC	c.(853-858)cccagafs	p.R286fs	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	286					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGAACTCTGGGGGGAACCT	0.475																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(853-858)ccgagtfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073803_8073804insG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.856dupC	1.37:g.8073809_8073809dupG	ENSP00000366702:p.Arg286fs		Somatic				ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.S286fs	NM_018948.3	NP_061821.1	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1078_1079	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	286					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Ins	INS	ENST00000377482.5	37	c.855_856insC	CCDS94.1																																																																																				0.475	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		7	537						7	537	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs		Somatic				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	549						10	549	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	4						4	4	---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:21936093_21936094insG	ENST00000374765.4	-	15	1245_1246	c.1045_1046insC	c.(1045-1047)ctcfs	p.L349fs	RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.L380fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.L413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.L349fs|RAP1GAP_ENST00000542643.2_Frame_Shift_Ins_p.L349fs	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1045-1047)cccfs		RAP1 GTPase activating protein																																				SO:0001589	frameshift_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936093_21936094insG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1046dupC	1.37:g.21936100_21936100dupG	ENSP00000363897:p.Leu349fs		Somatic				RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs	p.P349fs	NM_001145657.1	NP_001139129.1	WXS	Illumina GAIIx	Phase_I	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	16	1347_1348	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	349			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Frame_Shift_Ins	INS	ENST00000374765.4	37	c.1045_1046insC	CCDS218.1																																																																																				0.634	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		18	443						18	443	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		7	747						7	747	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	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_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	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		7	212						7	212	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28209480	28209481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:28209480_28209481insC	ENST00000373921.3	+	4	1649_1650	c.1645_1646insC	c.(1645-1647)gccfs	p.A549fs	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.A420fs|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	549					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGATCCAAGCCCCCCCACCC	0.574																																						ENST00000373921.3																			0											c.(1645-1647)cccfs		thymocyte selection associated family member 2																																				SO:0001589	frameshift_variant	9473							g.chr1:28209480_28209481insC	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1652dupC	1.37:g.28209487_28209487dupC	ENSP00000363031:p.Ala549fs		Somatic				THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.P420fs|THEMIS2_ENST00000373927.3_Intron	p.P549fs	NM_001105556.1	NP_001099026.1	WXS	Illumina GAIIx	Phase_I					4	1649_1650	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Frame_Shift_Ins	INS	ENST00000373921.3	37	c.1645_1646insC	CCDS41290.1																																																																																				0.574	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		13	302						13	302	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		13	494						13	494	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:36636586_36636587insC	ENST00000373151.2	+	2	277_278	c.61_62insC	c.(61-63)accfs	p.T21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.T21fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.T21fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	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)				GGTCGCCAGGACCCCCCCAGAG	0.614																																						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.(61-63)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636586_36636587insC	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.68dupC	1.37:g.36636593_36636593dupC	ENSP00000362244:p.Thr21fs		Somatic				MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs	p.P21fs			WXS	Illumina GAIIx	Phase_I	Q3KQU3	MA7D1_HUMAN			2	514_515	+		Myeloproliferative disorder(586;0.0393)	21			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.61_62insC	CCDS30673.1																																																																																				0.614	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	340						8	340	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		14	1287						14	1287	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)gccfs	p.A646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.A291fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	646	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCTCCAGCCCCCCGACAC	0.629																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1936-1938)cccfs		tyrosine kinase with immunoglobulin-like and EGF-like domains 1																																				SO:0001589	frameshift_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778814_43778815insC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1942dupC	1.37:g.43778820_43778820dupC	ENSP00000361554:p.Ala646fs		Somatic				TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	p.P646fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			13	2015_2016	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	646			Fibronectin type-III 3.		B5A949|B5A950	Frame_Shift_Ins	INS	ENST00000372476.3	37	c.1936_1937insC	CCDS482.1																																																																																				0.629	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	147						7	147	---	---	---	---
ELOVL1	64834	broad.mit.edu	37	1	43830227	43830228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:43830227_43830228insC	ENST00000372458.3	-	6	583_584	c.466_467insG	c.(466-468)gtafs	p.V156fs	ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.V129fs|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	156					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAATCTTTACCCCCCACCAC	0.55																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(466-468)aaafs		ELOVL fatty acid elongase 1																																				SO:0001589	frameshift_variant	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830227_43830228insC	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.467dupG	1.37:g.43830233_43830233dupC	ENSP00000361536:p.Val156fs		Somatic				ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs	p.K156fs	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			6	583_584	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	156					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Frame_Shift_Ins	INS	ENST00000372458.3	37	c.466_467insG	CCDS485.1																																																																																				0.550	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		7	314						7	314	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000361799.2_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		8	1655						8	1655	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:50666498_50666499insC	ENST00000371823.4	+	7	1015_1016	c.791_792insC	c.(790-795)gtccccfs	p.VP264fs	ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.VP269fs|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.53																																						ENST00000371821.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(805-807)gccfs		ELAV like neuron-specific RNA binding protein 4																																				SO:0001589	frameshift_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666498_50666499insC	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.797dupC	1.37:g.50666504_50666504dupC	ENSP00000360888:p.Val264fs		Somatic				ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron	p.A269fs			WXS	Illumina GAIIx	Phase_I	P26378	ELAV4_HUMAN			7	1121_1122	+			264					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Ins	INS	ENST00000371823.4	37	c.806_807insC	CCDS553.1																																																																																				0.530	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		10	460						10	460	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52981531	52981532	+	Intron	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:52981531_52981532insC	ENST00000371544.3	-	3	1145				ZCCHC11_ENST00000371541.1_Intron|ZCCHC11_ENST00000355809.4_Frame_Shift_Ins_p.E305fs|ZCCHC11_ENST00000257177.4_Intron	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AACACACATTTCCCCCCAAATA	0.366																																						ENST00000355809.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(913-915)aatfs		zinc finger, CCHC domain containing 11																																				SO:0001627	intron_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981531_52981532insC	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.882+30->G	1.37:g.52981537_52981537dupC			Somatic				ZCCHC11_ENST00000371544.3_Intron|ZCCHC11_ENST00000257177.4_Intron|ZCCHC11_ENST00000371541.1_Intron	p.N305fs			WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			3	1069_1070	-			0					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Ins	INS	ENST00000371544.3	37	c.913_914insG	CCDS30716.1																																																																																				0.366	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		8	196						8	196	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		15	304						15	304	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR	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_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	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		15	227						15	227	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.452_453insC	c.(451-456)ggcccc>ggCcccc	p.GP151fs	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.GP151fs	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	9	582						9	582	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs			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_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR	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		7	135						7	135	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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				LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_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		7	114						7	114	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		17	318						17	318	---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109325098	109325098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:109325098delC	ENST00000370008.3	+	10	914	c.864delC	c.(862-864)ctcfs	p.L288fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	288					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAGATGACCTCTGGGTTAGAA	0.343																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(862-864)ctfs		syntaxin binding protein 3							115.0	113.0	113.0					1																	109325098		2203	4300	6503	SO:0001589	frameshift_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109325098delC	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.864delC	1.37:g.109325098delC	ENSP00000359025:p.Leu288fs		Somatic					p.L288fs	NM_007269.2	NP_009200.2	WXS	Illumina GAIIx	Phase_I	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	10	914	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	288					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	ENST00000370008.3	37	c.864delC	CCDS790.1																																																																																				0.343	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		7	377						7	377	---	---	---	---
DENND2D	79961	broad.mit.edu	37	1	111742337	111742338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:111742337_111742338insC	ENST00000357640.4	-	2	379_380	c.150_151insG	c.(148-153)gggcagfs	p.Q51fs	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.Q48fs	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	51					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AAGAAGTGCTGCCCCCCAGCAA	0.485																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(148-153)ggagcafs		DENN/MADD domain containing 2D																																				SO:0001589	frameshift_variant	79961							g.chr1:111742337_111742338insC		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.151dupG	1.37:g.111742343_111742343dupC	ENSP00000350266:p.Gln51fs		Somatic				DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs	p.A51fs	NM_024901.3	NP_079177.2	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	2	379_380	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	51					Q5T5V6|Q9BSU0	Frame_Shift_Ins	INS	ENST00000357640.4	37	c.150_151insG	CCDS831.1																																																																																				0.485	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		8	151						8	151	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		22	248						22	248	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)gccfs	p.A1066fs	HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.A672fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.A692fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.A1066fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.A1032fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.A672fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3196-3198)cccfs		homeodomain interacting protein kinase 1																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515697_114515698insC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3202dupC	1.37:g.114515703_114515703dupC	ENSP00000358571:p.Ala1066fs		Somatic				HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs	p.P1066fs			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3428_3429	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1066			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.3196_3197insC	CCDS867.1																																																																																				0.614	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		11	344						11	344	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3025-3027)ccafs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584454_118584455insG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3026dupC	1.37:g.118584460_118584460dupG	ENSP00000337804:p.His1009fs		Somatic					p.P1009fs	NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090_3091	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	37	c.3025_3026insC	CCDS899.1																																																																																				0.371	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		9	753						9	753	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	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		14	294						14	294	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		13	543						13	543	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		9	182						9	182	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(373-375)gttfs		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001589	frameshift_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885018_149885019insC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.375dupG	1.37:g.149885025_149885025dupC	ENSP00000358142:p.Gly125fs		Somatic				SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	p.V125fs	NM_014849.3	NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	864_865	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		125					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Frame_Shift_Ins	INS	ENST00000369146.3	37	c.374_375insG	CCDS940.1																																																																																				0.629	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			9	168						9	168	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs		Somatic				TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	p.WG603fs	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)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		9	408						9	408	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151258868	151258869	+	Frame_Shift_Ins	INS	-	-	TGGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:151258868_151258869insTGGG	ENST00000368879.2	+	2	199_200	c.101_102insTGGG	c.(100-105)aatgagfs	p.E35fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			CCAGAAGAAAATGAGGGGCCTG	0.55																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(100-102)agafs		zinc finger protein 687																																				SO:0001589	frameshift_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151258868_151258869insTGGG		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	Exception_encountered	1.37:g.151258868_151258869insTGGG	ENSP00000357874:p.Glu35fs		Somatic					p.R34fs	NM_020832.1	NP_065883.1	WXS	Illumina GAIIx	Phase_I	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	199_200	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		34					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Ins	INS	ENST00000368879.2	37	c.101_102insTGGG																																																																																					0.550	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		26	371						26	371	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452671.2_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_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_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		16	288						16	288	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279150	152279151	+	Frame_Shift_Ins	INS	-	-	AGATCCTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:152279150_152279151insAGATCCTG	ENST00000368799.1	-	3	8246_8247	c.8211_8212insCAGGATCT	c.(8209-8214)tctttcfs	p.F2738fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2738	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)			TGGTAGAGGAAAGATCCTGAAT	0.594									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.(8209-8214)tctcctfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279150_152279151insAGATCCTG	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.8204_8211dupCAGGATCT	1.37:g.152279151_152279158dupAGATCCTG	ENSP00000357789:p.Phe2738fs		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.P2738fs	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8246_8247	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2738			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.8211_8212insCAGGATCT	CCDS30860.1																																																																																				0.594	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	131						7	131	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324471	152324472	+	In_Frame_Ins	INS	-	-	AGTGGTATCTCT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:152324471_152324472insAGTGGTATCTCT	ENST00000388718.5	-	3	5862_5863	c.5790_5791insAGAGATACCACT	c.(5788-5793)actgaa>actAGAGATACCACTgaa	p.1929_1930insTRDT	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1929					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)			TGGCCATGTTCAGTGGTATCTC	0.52																																						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.(5788-5793)acaaca>acAGAGATACCACTaaca		filaggrin family member 2																																				SO:0001652	inframe_insertion	388698						calcium ion binding|structural molecule activity	g.chr1:152324471_152324472insAGTGGTATCTCT	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.5790_5791insAGAGATACCACT	1.37:g.152324471_152324472insAGTGGTATCTCT	ENSP00000373370:p.Thr1929_Thr1930insThrArgAspThr		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.1930_1931TT>TEIPLT	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5862_5863	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1930					Q9H4U1	In_Frame_Ins	INS	ENST00000388718.5	37	c.5790_5791insAGAGATACCACT	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		22	653						22	653	---	---	---	---
S100A12	6283	broad.mit.edu	37	1	153346338	153346338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:153346338delG	ENST00000368737.3	-	3	361	c.244delC	c.(244-246)ctgfs	p.L82fs		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCAGCCTTCAGCGCAATGGCT	0.448																																						ENST00000368737.3																			0				endometrium(1)|kidney(1)|skin(2)	4						c.(244-246)tgfs		S100 calcium binding protein A12	Amlexanox(DB01025)						129.0	131.0	131.0					1																	153346338		2203	4300	6503	SO:0001589	frameshift_variant	6283				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153346338delG	BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10489	protein-coding gene	gene with protein product		603112	"""S100 calcium-binding protein A12 (calgranulin C)"", ""S100 calcium binding protein A12 (calgranulin C)"""			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.244delC	1.37:g.153346338delG	ENSP00000357726:p.Leu82fs		Somatic					p.L82fs	NM_005621.1	NP_005612.1	WXS	Illumina GAIIx	Phase_I	P80511	S10AC_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	361	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		82			EF-hand 2.		P83219|Q5SY66|Q7M4R1	Frame_Shift_Del	DEL	ENST00000368737.3	37	c.244delC	CCDS1037.1																																																																																				0.448	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036795.1	NM_005621		8	464						8	464	---	---	---	---
TPM3	7170	broad.mit.edu	37	1	154163682	154163682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154163682delC	ENST00000368530.2	-	2	415	c.223delG	c.(223-225)gcafs	p.A75fs	MIR190B_ENST00000401119.1_RNA|TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	75					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCTTCTCTGCCAGTTCCAGC	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368530.2				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(223-225)cafs		tropomyosin 3							144.0	149.0	148.0					1																	154163682		2177	4290	6467	SO:0001589	frameshift_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154163682delC	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.223delG	1.37:g.154163682delC	ENSP00000357516:p.Ala75fs		Somatic				TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	p.A75fs	NM_152263.2	NP_689476.2	WXS	Illumina GAIIx	Phase_I	P06753	TPM3_HUMAN			2	415	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		74					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Frame_Shift_Del	DEL	ENST00000368530.2	37	c.223delG	CCDS41403.1																																																																																				0.448	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		55	731						55	731	---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155230128	155230129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:155230128_155230129insC	ENST00000302631.3	-	4	487_488	c.380_381insG	c.(379-381)ggcfs	p.G127fs	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Frame_Shift_Ins_p.G101fs	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	127					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACTAGCTGTGCCCCCCAGGGC	0.589																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(301-303)gacfs		secretory carrier membrane protein 3																																				SO:0001589	frameshift_variant	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155230128_155230129insC	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.381dupG	1.37:g.155230134_155230134dupC	ENSP00000307275:p.Gly127fs		Somatic				SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Frame_Shift_Ins_p.D127fs	p.D101fs	NM_052837.2	NP_443069.1	WXS	Illumina GAIIx	Phase_I	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	580_581	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		127					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Frame_Shift_Ins	INS	ENST00000302631.3	37	c.302_303insG	CCDS1105.1																																																																																				0.589	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		9	382						9	382	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C	rs548707549		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:158058202_158058203insC	ENST00000359209.6	+	8	1069_1070	c.1002_1003insC	c.(1003-1005)cccfs	p.P335fs	KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.P235fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.P232fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.P171fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.P335fs|KIRREL_ENST00000368172.1_Frame_Shift_Ins_p.P133fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	335	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(394-399)aaccccfs		kin of IRRE like (Drosophila)																																				SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058202_158058203insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1009dupC	1.37:g.158058209_158058209dupC	ENSP00000352138:p.Pro335fs		Somatic				KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs	p.NP132fs			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			4	408_409	+	all_hematologic(112;0.0378)		334			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Ins	INS	ENST00000359209.6	37	c.396_397insC	CCDS1172.2																																																																																				0.455	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		17	551						17	551	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		11	465						11	465	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(112-114)gggfs	p.G38fs	FMO1_ENST00000367750.3_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.G38fs	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	38					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCGATGACCTTGGGGGGCTGTG	0.53																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(109-114)ctggggfs		flavin containing monooxygenase 1																																				SO:0001589	frameshift_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227337_171227338insG	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.117dupG	1.37:g.171227343_171227343dupG	ENSP00000346901:p.Gly38fs		Somatic				FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs	p.LG37fs			WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			1	242_243	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		37					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Frame_Shift_Ins	INS	ENST00000354841.4	37	c.111_112insG	CCDS1294.1																																																																																				0.530	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		9	556						9	556	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177133693	177133694	+	In_Frame_Ins	INS	-	-	GTA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:177133693_177133694insGTA	ENST00000367654.3	-	1	330_331	c.119_120insTAC	c.(118-120)atc>atTACc	p.41_42insT	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_In_Frame_Ins_p.41_42insT|ASTN1_ENST00000424564.2_In_Frame_Ins_p.41_42insT|ASTN1_ENST00000367657.3_In_Frame_Ins_p.41_42insT	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	41					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGACACCGTGATGCTTTTGAG	0.678																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(118-120)aac>aTACac		astrotactin 1																																				SO:0001652	inframe_insertion	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133693_177133694insGTA	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.119_120insTAC	1.37:g.177133693_177133694insGTA	ENSP00000356626:p.Thr41_Thr41dup		Somatic				ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH	p.40_40N>IH			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			1	132_133	-			40					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	In_Frame_Ins	INS	ENST00000367654.3	37	c.119_120insTAC																																																																																					0.678	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	61						7	61	---	---	---	---
LAD1	3898	broad.mit.edu	37	1	201352461	201352464	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:201352461_201352464delTATC	ENST00000391967.2	-	6	1530_1533	c.1229_1232delGATA	c.(1228-1233)agatacfs	p.RY410fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	410						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCCGTGTGGTATCTCTCCAGCTT	0.608																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1228-1233)acfs		ladinin 1																																				SO:0001589	frameshift_variant	3898					basement membrane	structural molecule activity	g.chr1:201352461_201352464delTATC	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1229_1232delGATA	1.37:g.201352461_201352464delTATC	ENSP00000375829:p.Arg410fs		Somatic				LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	p.RY410fs	NM_005558.3	NP_005549.2	WXS	Illumina GAIIx	Phase_I	O00515	LAD1_HUMAN			6	1530_1533	-			410					O95614|Q96GD8	Frame_Shift_Del	DEL	ENST00000391967.2	37	c.1229_1232delGATA	CCDS1410.1																																																																																				0.608	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		10	405						10	405	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	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		7	192						7	192	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs		Somatic				NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs	p.T163fs			WXS	Illumina GAIIx	Phase_I	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		7	816_817	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		163			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	ENST00000401399.1	37	c.488_489insC	CCDS53460.1																																																																																				0.559	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		10	605						10	605	---	---	---	---
MFSD4	148808	broad.mit.edu	37	1	205566933	205566934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:205566933_205566934insG	ENST00000367147.4	+	8	1416_1417	c.1323_1324insG	c.(1324-1326)gggfs	p.G442fs	RNU6-418P_ENST00000384035.1_RNA|MFSD4_ENST00000539267.1_Intron|MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.G355fs	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	442					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGGTGACAGGGGCAGGAGT	0.525																																						ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1321-1326)acgggcfs		major facilitator superfamily domain containing 4																																				SO:0001589	frameshift_variant	148808				transmembrane transport	integral to membrane		g.chr1:205566933_205566934insG	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1327dupG	1.37:g.205566937_205566937dupG	ENSP00000356115:p.Gly442fs		Somatic				MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.TG354fs|MFSD4_ENST00000539267.1_Intron	p.TG441fs	NM_181644.4	NP_857595.3	WXS	Illumina GAIIx	Phase_I	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		8	1416_1417	+	Breast(84;0.07)		441					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Frame_Shift_Ins	INS	ENST00000367147.4	37	c.1323_1324insG	CCDS1455.1																																																																																				0.525	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		10	455						10	455	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212988385	212988386	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:212988385_212988386insC	ENST00000366974.4	+	10	806_807	c.712_713insC	c.(712-714)tcafs	p.S238fs	TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	238					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CATTTCTATTTCAGCAGAATAT	0.431																																						ENST00000366974.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(712-714)agcfs		TatD DNase domain containing 3																																				SO:0001589	frameshift_variant	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212988385_212988386insC	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.713dupC	1.37:g.212988386_212988386dupC	ENSP00000355941:p.Ser238fs		Somatic				TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs|TATDN3_ENST00000526997.1_3'UTR	p.S238fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	WXS	Illumina GAIIx	Phase_I	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	10	806_807	+			238					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Frame_Shift_Ins	INS	ENST00000366974.4	37	c.712_713insC	CCDS31019.1																																																																																				0.431	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		24	213						24	213	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.53																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(406-408)accfs		prospero homeobox 1																																				SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170285_214170286insC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.413dupC	1.37:g.214170291_214170291dupC	ENSP00000355925:p.Ser136fs		Somatic				PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1015_1016	+			136					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	37	c.407_408insC	CCDS31021.1																																																																																				0.530	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		8	403						8	403	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs		Somatic				TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs	p.H274fs			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		35	568						35	568	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235969934	235969934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:235969934delG	ENST00000389794.3	-	6	2676	c.2502delC	c.(2500-2502)gccfs	p.A834fs	LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs|LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	834					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAACTGAGGCATCTTTCT	0.378																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2500-2502)gcfs		lysosomal trafficking regulator							220.0	211.0	214.0					1																	235969934		2203	4300	6503	SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969934delG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2502delC	1.37:g.235969934delG	ENSP00000374444:p.Ala834fs		Somatic				LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs	p.A834fs			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2676	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	834					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	c.2502delC	CCDS31062.1																																																																																				0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			22	447						22	447	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)cccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456981_27456982insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs		Somatic				CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	p.P1169fs	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			22	3667_3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.3505_3506insC																																																																																					0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	150						7	150	---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46611714	46611714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:46611714delA	ENST00000263734.3	+	16	3038	c.2528delA	c.(2527-2529)gacfs	p.D843fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	843	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAGATATGACTGTGAGGTG	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2527-2529)gcfs		endothelial PAS domain protein 1							78.0	77.0	78.0					2																	46611714		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46611714delA	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2528delA	2.37:g.46611714delA	ENSP00000263734:p.Asp843fs		Somatic					p.D843fs	NM_001430.4	NP_001421.2	WXS	Illumina GAIIx	Phase_I	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		16	3038	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	843			CTAD.		Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.2528delA	CCDS1825.1																																																																																				0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		63	213						63	213	---	---	---	---
COMMD1	150684	broad.mit.edu	37	2	62373417	62373418	+	RNA	INS	-	-	A	rs76799739		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:62373417_62373418insA	ENST00000425966.2	-	0	251				AC018462.2_ENST00000421323.1_RNA																							ctctacttattaaaaaaaaAAA	0.347																																						ENST00000425966.2																			0																																																			150684							g.chr2:62373417_62373418insA																													2.37:g.62373428_62373428dupA			Somatic				AC018462.2_ENST00000421323.1_RNA				WXS	Illumina GAIIx	Phase_I					0	251	-									RNA	INS	ENST00000425966.2	37																																																																																						0.347	AC018462.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000326542.3			2	4						2	4	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		10	472						10	472	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank	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	7	743						7	743	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs|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_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_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs	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	1109						9	1109	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100903470	100903472	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:100903470_100903472delTGT	ENST00000393437.3	-	11	2613_2615	c.1974_1976delACA	c.(1972-1977)caacag>cag	p.658_659QQ>Q	LONRF2_ENST00000409647.1_In_Frame_Del_p.415_416QQ>Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	658	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGAAACAGACTGTTGATGCACAG	0.488																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1972-1977)cag>ca		LON peptidase N-terminal domain and ring finger 2																																				SO:0001651	inframe_deletion	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903470_100903472delTGT	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1974_1976delACA	2.37:g.100903470_100903472delTGT	ENSP00000377086:p.Gln659del		Somatic				LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del	p.QQ658del	NM_198461.3	NP_940863.3	WXS	Illumina GAIIx	Phase_I	Q1L5Z9	LONF2_HUMAN			11	2613_2615	-			658			Lon.		B9A006|Q6ZSR4	In_Frame_Del	DEL	ENST00000393437.3	37	c.1974_1976delACA	CCDS2046.2																																																																																				0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		21	421						21	421	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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	525						7	525	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C	rs370090371|rs535247185		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441																																						ENST00000601658.1																			0																																																			101928553							g.chr2:149629672_149629673insC																													2.37:g.149629681_149629681dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	676	-									RNA	INS	ENST00000601658.1	37																																																																																						0.441	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			2	4						2	4	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		7	490						7	490	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs		Somatic				FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		9	131						9	131	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409605.1_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_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_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		16	226						16	226	---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175333792	175333793	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:175333792_175333793delTT	ENST00000392552.2	-	5	1267_1268	c.1029_1030delAA	c.(1027-1032)ataaccfs	p.T344fs	GPR155_ENST00000295500.4_Frame_Shift_Del_p.T344fs|GPR155_ENST00000392551.2_Frame_Shift_Del_p.T344fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	344					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATCCCTGAGGTTATCTGCAAAA	0.376																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(1027-1032)atccfs		G protein-coupled receptor 155																																				SO:0001589	frameshift_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175333792_175333793delTT	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1029_1030delAA	2.37:g.175333792_175333793delTT	ENSP00000376335:p.Thr344fs		Somatic				GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs	p.IT343fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			5	1267_1268	-			343					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Frame_Shift_Del	DEL	ENST00000392552.2	37	c.1029_1030delAA	CCDS2259.1																																																																																				0.376	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		70	215						70	215	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_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				CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_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		42	1060						42	1060	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	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		7	250						7	250	---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238976761	238976762	+	Frame_Shift_Ins	INS	-	-	G	rs76625747|rs535872199	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:238976761_238976762insG	ENST00000555827.1	+	3	322_323	c.258_259insG	c.(259-261)gggfs	p.G87fs	UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000429612.2_Frame_Shift_Ins_p.G87fs|SCLY_ENST00000409736.2_Frame_Shift_Ins_p.G87fs|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000254663.6_Frame_Shift_Ins_p.G95fs			Q96I15	SCLY_HUMAN	selenocysteine lyase	87					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGAAGATGATAGGGGGGAAACC	0.416																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(280-285)atggggfs		selenocysteine lyase																																				SO:0001589	frameshift_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238976761_238976762insG	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.264dupG	2.37:g.238976767_238976767dupG	ENSP00000450613:p.Gly87fs		Somatic				SCLY_ENST00000429612.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000555827.1_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000409736.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000422984.2_Intron|UBE2F-SCLY_ENST00000449191.1_3'UTR	p.MG94fs	NM_016510.5	NP_057594.4	WXS	Illumina GAIIx	Phase_I	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	3	424_425	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	86					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Frame_Shift_Ins	INS	ENST00000555827.1	37	c.282_283insG																																																																																					0.416	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		7	148						7	148	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		51	684						51	684	---	---	---	---
THAP4	51078	broad.mit.edu	37	2	242573106	242573106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:242573106delT	ENST00000407315.1	-	2	897	c.466delA	c.(466-468)aggfs	p.R156fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	156							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGGCCGCCCTGGGTGTGGCT	0.642																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(466-468)ggfs		THAP domain containing 4							27.0	31.0	30.0					2																	242573106		2203	4295	6498	SO:0001589	frameshift_variant	51078						DNA binding|metal ion binding	g.chr2:242573106delT	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.466delA	2.37:g.242573106delT	ENSP00000385006:p.Arg156fs		Somatic					p.R156fs	NM_015963.5	NP_057047.4	WXS	Illumina GAIIx	Phase_I	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	897	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	156					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Frame_Shift_Del	DEL	ENST00000407315.1	37	c.466delA	CCDS2551.1																																																																																				0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		12	47						12	47	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)tggfs	p.W558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.W558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1672-1674)gggfs		TatD DNase domain containing 2																																				SO:0001589	frameshift_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312538_10312539insG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1678dupG	3.37:g.10312544_10312544dupG	ENSP00000287652:p.Trp558fs		Somatic				TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	p.G558fs	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			4	2723_2724	+			558					Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	ENST00000287652.4	37	c.1672_1673insG	CCDS33698.1																																																																																				0.505	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		8	801						8	801	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(331-333)gggfs	p.G111fs	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	111					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(328-333)atggggfs		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)																																			SO:0001589	frameshift_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059620_11059621insG		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.336dupG	3.37:g.11059626_11059626dupG	ENSP00000287766:p.Gly111fs		Somatic				SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	p.MG110fs	NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	751_752	+		Ovarian(110;0.0392)	110					Q8N4K8	Frame_Shift_Ins	INS	ENST00000287766.4	37	c.330_331insG	CCDS2603.1																																																																																				0.599	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	177						7	177	---	---	---	---
TCAIM	285343	broad.mit.edu	37	3	44434435	44434436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:44434435_44434436insT	ENST00000342649.4	+	6	1088_1089	c.661_662insT	c.(661-663)gaafs	p.E221fs	TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.E221fs	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	221						mitochondrion (GO:0005739)											TTTAAAAGATGAACTGTCTCAT	0.327																																						ENST00000342649.4																			0											c.(661-663)actfs		T cell activation inhibitor, mitochondrial																																				SO:0001589	frameshift_variant	285343							g.chr3:44434435_44434436insT		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	Exception_encountered	3.37:g.44434435_44434436insT	ENSP00000341539:p.Glu221fs		Somatic				TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs	p.T221fs	NM_173826.3	NP_776187.2	WXS	Illumina GAIIx	Phase_I					6	1088_1089	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Frame_Shift_Ins	INS	ENST00000342649.4	37	c.661_662insT	CCDS2712.1																																																																																				0.327	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		31	202						31	202	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_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_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_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		13	174						13	174	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)cagfs	p.Q488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1462-1464)gggfs		Vpr (HIV-1) binding protein																																				SO:0001589	frameshift_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457614_51457615insG	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1463dupC	3.37:g.51457621_51457621dupG	ENSP00000338857:p.Gln488fs		Somatic					p.G488fs			WXS	Illumina GAIIx	Phase_I	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1471_1472	-			937					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Frame_Shift_Ins	INS	ENST00000335891.5	37	c.1462_1463insC																																																																																					0.589	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		7	285						7	285	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52696164	52696164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:52696164delG	ENST00000296302.7	-	4	514	c.513delC	c.(511-513)ggcfs	p.G171fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs			Q86U86	PB1_HUMAN	polybromo 1	171					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTCACTGTGCCCTGATTGT	0.488			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(511-513)ggfs		polybromo 1							373.0	335.0	348.0					3																	52696164		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52696164delG	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.513delC	3.37:g.52696164delG	ENSP00000296302:p.Gly171fs		Somatic				PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs	p.G171fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	515	-			171					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.513delC																																																																																					0.488	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		159	800						159	800	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		8	373						8	373	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125825989	125825992	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:125825989_125825992delAGCA	ENST00000393434.2	-	21	2794_2797	c.2445_2448delTGCT	c.(2443-2448)tttgctfs	p.FA815fs	ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	815	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTACCCATCAGCAAACCGAGAGA	0.534																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2443-2448)ttfs		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125825989_125825992delAGCA	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2445_2448delTGCT	3.37:g.125825989_125825992delAGCA	ENSP00000377083:p.Phe815fs		Somatic				ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs|ALDH1L1-AS1_ENST00000512384.1_RNA	p.FA815fs	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	21	2794_2797	-			815			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Del	DEL	ENST00000393434.2	37	c.2445_2448delTGCT	CCDS3034.1																																																																																				0.534	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		15	228						15	228	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			15	245						15	245	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		15	320						15	320	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121957791	121957792	+	Frame_Shift_Ins	INS	-	-	T	rs376739357		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:121957791_121957792insT	ENST00000379692.4	-	4	1860_1861	c.1334_1335insA	c.(1333-1335)cccfs	p.P445fs	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAGGAAGAGAGGGAAATGACTG	0.446																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1333-1335)ctcfs		neuron-derived neurotrophic factor																																				SO:0001589	frameshift_variant	79625							g.chr4:121957791_121957792insT	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1334_1335insA	4.37:g.121957791_121957792insT	ENSP00000369014:p.Pro445fs		Somatic					p.L445fs	NM_024574.3	NP_078850.3	WXS	Illumina GAIIx	Phase_I	Q8TB73	CD031_HUMAN			4	1860_1861	-			445			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Frame_Shift_Ins	INS	ENST00000379692.4	37	c.1334_1335insA	CCDS3717.2																																																																																				0.446	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		16	390						16	390	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs		Somatic				ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		9	514						9	514	---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151177263	151177264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:151177263_151177264insA	ENST00000296550.7	+	16	2919_2920	c.2165_2166insA	c.(2164-2169)cctcccfs	p.P723fs	DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P722fs|DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P740fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	723	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTCCAGTTCCTCCCTCAGTGG	0.649																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(2164-2166)cccfs		doublecortin-like kinase 2																																				SO:0001589	frameshift_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151177263_151177264insA	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	Exception_encountered	4.37:g.151177263_151177264insA	ENSP00000296550:p.Pro723fs		Somatic				DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs|DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs	p.P722fs	NM_001040260.3	NP_001035350.2	WXS	Illumina GAIIx	Phase_I	Q8N568	DCLK2_HUMAN			16	2919_2920	+	all_hematologic(180;0.151)		722			Pro-rich.		C9J5Q9|Q59GC8|Q8N399	Frame_Shift_Ins	INS	ENST00000296550.7	37	c.2165_2166insA	CCDS34076.1																																																																																				0.649	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		11	70						11	70	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_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_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_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		9	687						9	687	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169201620	169201621	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:169201620_169201621insA	ENST00000393743.3	-	14	2134_2135	c.1843_1844insT	c.(1843-1845)aatfs	p.N615fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	615					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAGTGTAAATTTTCTTTCAAT	0.366																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1843-1845)tttfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60																																				SO:0001589	frameshift_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201620_169201621insA	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1843_1844insT	4.37:g.169201620_169201621insA	ENSP00000377344:p.Asn615fs		Somatic					p.F615fs	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2134_2135	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	615					Q6PK35|Q9NVE3	Frame_Shift_Ins	INS	ENST00000393743.3	37	c.1843_1844insT	CCDS34097.1																																																																																				0.366	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		8	198						8	198	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.G17fs|GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.G13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.G24fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATAGGGAATGCCCCCCAGGCA	0.431																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(70-72)gatfs		glycoprotein M6A																																				SO:0001589	frameshift_variant	2823					cell surface|integral to membrane		g.chr4:176622884_176622885insC		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.72dupG	4.37:g.176622890_176622890dupC	ENSP00000280187:p.Gly24fs		Somatic				GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs	p.D24fs	NM_005277.4	NP_005268.1	WXS	Illumina GAIIx	Phase_I	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	116_117	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	24					B7Z642|E9PHI5|Q92602	Frame_Shift_Ins	INS	ENST00000280187.7	37	c.71_72insG	CCDS3824.1																																																																																				0.431	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			11	275						11	275	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090267	32090268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:32090267_32090268insC	ENST00000438447.1	+	20	7101_7102	c.6713_6714insC	c.(6712-6717)caccccfs	p.HP2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.HP2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGGAGGGTCACCCCCCACACA	0.639																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cccfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090267_32090268insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6719dupC	5.37:g.32090273_32090273dupC	ENSP00000402033:p.His2238fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs	p.P2238fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	7101_7102	+			2238					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.6713_6714insC	CCDS34137.1																																																																																				0.639	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			12	634						12	634	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	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				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	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		21	913						21	913	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs		Somatic				C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	p.L277fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			8	184						8	184	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413					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)		CATTCTTTTCCAAAAAATGGGA	0.401																																					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.(1237-1239)aaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490419_71490420insA	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.1243dupA	5.37:g.71490425_71490425dupA	ENSP00000296755:p.Gln413fs		Somatic					p.K413fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1535_1536	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	413					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.1237_1238insA	CCDS4012.1																																																																																				0.401	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	769						9	769	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		19	613						19	613	---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96136598	96136598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:96136598delC	ENST00000443439.2	-	3	696	c.630delG	c.(628-630)gagfs	p.E210fs	ERAP1_ENST00000296754.3_Frame_Shift_Del_p.E210fs	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	210					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGTGCCTTGGCTCTCTTCTAA	0.438																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(628-630)gafs		endoplasmic reticulum aminopeptidase 1							121.0	119.0	120.0					5																	96136598		2203	4300	6503	SO:0001589	frameshift_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96136598delC	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.630delG	5.37:g.96136598delC	ENSP00000406304:p.Glu210fs		Somatic				ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs	p.E210fs	NM_016442.3	NP_057526.3	WXS	Illumina GAIIx	Phase_I	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	3	887	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	210					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	c.630delG	CCDS47250.1																																																																																				0.438	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		18	320						18	320	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)gcafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1858-1860)cafs		heat shock 70kDa protein 4							225.0	209.0	214.0					5																	132432907		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432907delG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1858delG	5.37:g.132432907delG	ENSP00000302961:p.Ala620fs		Somatic					p.A620fs	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2147	+			620					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1858delG	CCDS4166.1																																																																																				0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		9	381						9	381	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs		Somatic				TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs	p.HP152fs			WXS	Illumina GAIIx	Phase_I	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		10	166						10	166	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.P682fs	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	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		10	282						10	282	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)caafs	p.Q462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.Q388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.Q386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)agcfs		FCH and double SH3 domains 1																																				SO:0001589	frameshift_variant	89848							g.chr5:141024642_141024643insG	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1385dupC	5.37:g.141024648_141024648dupG	ENSP00000399259:p.Gln462fs		Somatic				FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs|FCHSD1_ENST00000523856.1_5'UTR	p.S462fs	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1434_1435	-			462					Q6UX75|Q86Y77|Q9NXX8	Frame_Shift_Ins	INS	ENST00000435817.2	37	c.1384_1385insC	CCDS47295.1																																																																																				0.589	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		7	134						7	134	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	495						9	495	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		9	261						9	261	---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151202402	151202403	+	Frame_Shift_Ins	INS	-	-	G	rs62636581	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:151202402_151202403insG	ENST00000455880.2	-	9	1491_1492	c.1205_1206insC	c.(1204-1206)cctfs	p.P402fs	GLRA1_ENST00000545569.1_Frame_Shift_Ins_p.P311fs|GLRA1_ENST00000274576.4_Frame_Shift_Ins_p.P394fs			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	402					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGCAGGAGGGGGGTTGGT	0.55																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1180-1182)cccfs		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151202402_151202403insG		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1206dupC	5.37:g.151202408_151202408dupG	ENSP00000411593:p.Pro402fs		Somatic				GLRA1_ENST00000545569.1_Frame_Shift_Ins_p.P311fs|GLRA1_ENST00000455880.2_Frame_Shift_Ins_p.P402fs	p.P394fs	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	WXS	Illumina GAIIx	Phase_I	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1473_1474	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	402					B2R6T3|Q14C77|Q6DJV9	Frame_Shift_Ins	INS	ENST00000455880.2	37	c.1181_1182insC	CCDS54942.1																																																																																				0.550	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			9	1838						9	1838	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)tggfs	p.W460fs	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.W133fs|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.W398fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	460	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1378-1380)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)																																				SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789314_153789315insG	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1384dupG	5.37:g.153789320_153789320dupG	ENSP00000297107:p.Trp460fs		Somatic				GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA	p.G460fs	NM_198321.3	NP_938080.1	WXS	Illumina GAIIx	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1515_1516	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	460			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Ins	INS	ENST00000297107.6	37	c.1378_1379insG	CCDS4325.1																																																																																				0.535	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		7	294						7	294	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		10	428						10	428	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs		Somatic				EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	WXS	Illumina GAIIx	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		26	878						26	878	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			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_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_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		30	671						30	671	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|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		11	208						11	208	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378843.2_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_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_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			13	365						13	365	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		17	938						17	938	---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24873930	24873931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:24873930_24873931insG	ENST00000259698.4	-	3	373_374	c.198_199insC	c.(196-201)cccaaafs	p.K67fs	FAM65B_ENST00000540914.1_Frame_Shift_Ins_p.K67fs|FAM65B_ENST00000510784.2_Frame_Shift_Ins_p.K101fs|FAM65B_ENST00000378023.4_Frame_Shift_Ins_p.K67fs|FAM65B_ENST00000538035.1_Frame_Shift_Ins_p.K96fs	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	67	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAGGCTCTTTGGGGGGATTGT	0.426																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(196-201)ccaagafs		family with sequence similarity 65, member B																																				SO:0001589	frameshift_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24873930_24873931insG	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.199dupC	6.37:g.24873936_24873936dupG	ENSP00000259698:p.Lys67fs		Somatic				FAM65B_ENST00000538035.1_Frame_Shift_Ins_p.R96fs|FAM65B_ENST00000540914.1_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000378023.4_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000510784.2_Frame_Shift_Ins_p.R101fs	p.R67fs	NM_014722.2	NP_055537.2	WXS	Illumina GAIIx	Phase_I	Q9Y4F9	FA65B_HUMAN			3	373_374	-			67			Involved in cell filopodia formation.		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Frame_Shift_Ins	INS	ENST00000259698.4	37	c.198_199insC	CCDS47383.1																																																																																				0.426	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			9	902						9	902	---	---	---	---
HLA-G	3135	broad.mit.edu	37	6	29797195	29797196	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:29797195_29797196insC	ENST00000360323.6	+	4	644_645	c.620_621insC	c.(619-624)gacccc>gaCcccc	p.DP207fs	HLA-G_ENST00000376828.2_Splice_Site_p.DP212fs|HLA-G_ENST00000376818.3_Splice_Site_p.NP115fs|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Splice_Site_p.DP207fs			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Alpha-3.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCTTTCAGACCCCCCCAAGA	0.54																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.e5-1		major histocompatibility complex, class I, G																																				SO:0001630	splice_region_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797195_29797196insC		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.620-1->C	6.37:g.29797202_29797202dupC			Somatic				HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Splice_Site_p.T115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.A212_splice|HLA-G_ENST00000360323.6_Splice_Site_p.A207_splice	p.A207_splice	NM_002127.5	NP_002118.1	WXS	Illumina GAIIx	Phase_I	P17693	HLAG_HUMAN			5	798_799	+			207			Alpha-3.			Splice_Site	INS	ENST00000360323.6	37	c.619_splice	CCDS4668.1																																																																																				0.540	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	Frame_Shift_Ins	7	231						7	231	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:31608920_31608921insC	ENST00000375964.6	-	19	2970_2971	c.2657_2658insG	c.(2656-2658)ggafs	p.G886fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.G754fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.G916fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2746-2748)gcafs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608920_31608921insC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2658dupG	6.37:g.31608926_31608926dupC	ENSP00000365131:p.Gly886fs		Somatic				BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs	p.A916fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			20	3036_3037	-			886					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.2747_2748insG	CCDS47403.1																																																																																				0.515	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		10	486						10	486	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000480039.1_Intron	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			7	293						7	293	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32029262	32029263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:32029262_32029263insC	ENST00000375244.3	-	21	7604_7605	c.7403_7404insG	c.(7402-7404)ggcfs	p.G2468fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.G2468fs			P22105	TENX_HUMAN	tenascin XB	2528	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTCCAGGCCCCCCACGGT	0.683																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7402-7404)gctfs		tenascin XB																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029262_32029263insC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7404dupG	6.37:g.32029268_32029268dupC	ENSP00000364393:p.Gly2468fs		Somatic				TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs	p.A2468fs			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			21	7604_7605	-			2528					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.7403_7404insG																																																																																					0.683	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	483						9	483	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs		Somatic					p.A158fs	NM_022110.3	NP_071393.2	WXS	Illumina GAIIx	Phase_I	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			15	493						15	493	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			25	759						25	759	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33179568	33179568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33179568delT	ENST00000374656.4	+	6	1116	c.908delT	c.(907-909)attfs	p.I303fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	303	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCCTGCGCATTGCCCTCGAG	0.642																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(907-909)atfs		ring finger protein 1							94.0	96.0	95.0					6																	33179568		2203	4300	6503	SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179568delT		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.908delT	6.37:g.33179568delT	ENSP00000363787:p.Ile303fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.I303fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			6	1116	+			303			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Del	DEL	ENST00000374656.4	37	c.908delT	CCDS34424.1																																																																																				0.642	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			49	290						49	290	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(823-825)cccfs	p.P275fs	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.P275fs|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.P216fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	275	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(820-825)ctccccfs		synaptic Ras GTPase activating protein 1																																				SO:0001589	frameshift_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405504_33405505insC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.828dupC	6.37:g.33405510_33405510dupC	ENSP00000403636:p.Pro275fs		Somatic				SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs	p.LP274fs	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			8	923_924	+			274			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.822_823insC	CCDS34434.2																																																																																				0.599	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		11	424						11	424	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G	rs371490655		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:35108559_35108560insG	ENST00000512012.1	-	1	244_245	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TCP11_ENST00000311875.5_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000244645.3_5'UTR			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(127-129)ggafs		t-complex 11, testis-specific			,	6,3644		0,6,1819					,	-4.2	0.0			24	2,7854		0,2,3926	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	0,8,5745	A1A1,A1R,RR		0.0255,0.1644,0.0695	,	,		8,11498				SO:0001589	frameshift_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35108559_35108560insG		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.89dupC	6.37:g.35108566_35108566dupG	ENSP00000425995:p.Gln30fs		Somatic				TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.G43fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000512012.1_Frame_Shift_Ins_p.G30fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000412155.2_Intron	p.G43fs			WXS	Illumina GAIIx	Phase_I	Q8WWU5	TCP11_HUMAN			2	544_545	-			30					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Ins	INS	ENST00000512012.1	37	c.127_128insC																																																																																					0.639	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		7	167						7	167	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			7	183						7	183	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC			Somatic				MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron	p.TP241fs	NM_001315.2	NP_001306.1	WXS	Illumina GAIIx	Phase_I	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		8	256						8	256	---	---	---	---
FOXP4	116113	broad.mit.edu	37	6	41564917	41564921	+	Frame_Shift_Del	DEL	CCCCA	CCCCA	-	rs6911720		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:41564917_41564921delCCCCA	ENST00000307972.4	+	14	1674_1678	c.1662_1666delCCCCA	c.(1660-1668)agccccaccfs	p.PT555fs	FOXP4_ENST00000373060.1_Frame_Shift_Del_p.PT555fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.PT543fs|MIR4641_ENST00000578353.1_RNA|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.PT542fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.PT553fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	555					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCAGGAGCCCCACCCTGGTGAA	0.546																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1660-1668)agccfs		forkhead box P4																																				SO:0001589	frameshift_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41564917_41564921delCCCCA	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1662_1666delCCCCA	6.37:g.41564917_41564921delCCCCA	ENSP00000309823:p.Pro555fs		Somatic				FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs	p.SPT554fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	WXS	Illumina GAIIx	Phase_I	Q8IVH2	FOXP4_HUMAN			15	2120_2124	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		554					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Del	DEL	ENST00000307972.4	37	c.1662_1666delCCCCA	CCDS34447.1																																																																																				0.546	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		10	178						10	178	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs		Somatic				REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		18	309						18	309	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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		10	477						10	477	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143074371	143074371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:143074371delG	ENST00000367604.1	-	9	7853	c.7214delC	c.(7213-7215)gctfs	p.A2405fs	HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|HIVEP2_ENST00000367603.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2405					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(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGTGGAGTGAGCTAATGGAGT	0.468																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7213-7215)gtfs		human immunodeficiency virus type I enhancer binding protein 2							209.0	208.0	208.0					6																	143074371		2078	4224	6302	SO:0001589	frameshift_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074371delG	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7214delC	6.37:g.143074371delG	ENSP00000356576:p.Ala2405fs		Somatic				HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs	p.A2405fs	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7956	-			2405					Q02646|Q5THT5|Q9NS05	Frame_Shift_Del	DEL	ENST00000367604.1	37	c.7214delC	CCDS43510.1																																																																																				0.468	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			8	598						8	598	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)gccfs	p.A337fs	PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.A325fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.A268fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.A257fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.A348fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1009-1011)cccfs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086745_144086746insC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1016dupC	6.37:g.144086752_144086752dupC	ENSP00000391763:p.Ala337fs		Somatic				PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs	p.P337fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	WXS	Illumina GAIIx	Phase_I	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1139_1140	+			337					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.1009_1010insC	CCDS47492.1																																																																																				0.584	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		8	110						8	110	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412190	154412191	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:154412190_154412191insCT	ENST00000330432.7	+	3	984_985	c.747_748insCT	c.(748-750)attfs	p.I250fs	OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000414028.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.I343fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.I169fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.I250fs	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	250					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAGTGCTCATCATTACCGTGTG	0.465																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(745-750)atttacfs		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)																																			SO:0001589	frameshift_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412190_154412191insCT	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	Exception_encountered	6.37:g.154412190_154412191insCT	ENSP00000328264:p.Ile250fs		Somatic				OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs	p.Y250fs	NM_001145284.2	NP_001138756.1	WXS	Illumina GAIIx	Phase_I	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	797_798	+		Ovarian(120;0.196)	250					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Frame_Shift_Ins	INS	ENST00000330432.7	37	c.747_748insCT	CCDS55070.1																																																																																				0.465	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		15	185						15	185	---	---	---	---
TCP1	6950	broad.mit.edu	37	6	160200765	160200766	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:160200765_160200766delTG	ENST00000321394.7	-	11	1627_1628	c.1347_1348delCA	c.(1345-1350)cccaatfs	p.N450fs	TCP1_ENST00000420894.2_Intron|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000392168.2_Frame_Shift_Del_p.N295fs|TCP1_ENST00000544255.1_Frame_Shift_Del_p.N226fs	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	450					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTAGTGTATTGGGAATAACAA	0.416																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(1345-1350)ccatfs		t-complex 1																																				SO:0001589	frameshift_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160200765_160200766delTG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1347_1348delCA	6.37:g.160200765_160200766delTG	ENSP00000317334:p.Asn450fs		Somatic				TCP1_ENST00000420894.2_Intron|TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs	p.PN449fs	NM_030752.2	NP_110379.2	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	11	1627_1628	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	449					E1P5B2|Q15556|Q5TCM3	Frame_Shift_Del	DEL	ENST00000321394.7	37	c.1347_1348delCA	CCDS5269.1																																																																																				0.416	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		7	245						7	245	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			24	419						24	419	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8125865	8125866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:8125865_8125866insA	ENST00000223145.5	+	8	1898_1899	c.1341_1342insA	c.(1342-1344)aaafs	p.K448fs		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	448						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CATGTCCTGACAAAAACAAGGT	0.411																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1339-1344)gaaaaafs		glucocorticoid induced transcript 1																																				SO:0001589	frameshift_variant	113263							g.chr7:8125865_8125866insA	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1346dupA	7.37:g.8125870_8125870dupA	ENSP00000223145:p.Lys448fs		Somatic					p.EK447fs	NM_138426.3	NP_612435.1	WXS	Illumina GAIIx	Phase_I	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1898_1899	+		Ovarian(82;0.0608)	447					A4D103|Q96FD0	Frame_Shift_Ins	INS	ENST00000223145.5	37	c.1341_1342insA	CCDS34601.1																																																																																				0.411	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		9	1330						9	1330	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs		Somatic				ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR	p.T121fs			WXS	Illumina GAIIx	Phase_I	P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		11	335						11	335	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|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				AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		11	403						11	403	---	---	---	---
TRGJP	6970	broad.mit.edu	37	7	38313226	38313227	+	RNA	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:38313226_38313227insT	ENST00000390338.2	-	0	21_22				TRGJP1_ENST00000390339.1_RNA					T cell receptor gamma joining P																		AAATACCTTGATTTTTTTGCCC	0.391																																						ENST00000390338.2																			0																																																			6970							g.chr7:38313226_38313227insT	M12950		7p14	2012-02-07			ENSG00000211691	ENSG00000211691		"""T cell receptors / TRG locus"""	12279	other	T cell receptor gene	"""T-cell receptor, gamma, joining segment JP"""			TCRGJP		2938743	Standard	NG_001336		Approved	JP			OTTHUMG00000155220		7.37:g.38313233_38313233dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	21_22	-									RNA	INS	ENST00000390338.2	37																																																																																						0.391	TRGJP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000338826.1	NG_001336		7	471						7	471	---	---	---	---
LINC00957	255031	broad.mit.edu	37	7	44080548	44080549	+	lincRNA	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:44080548_44080549insC	ENST00000441052.1	+	0	1233_1234				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		TGCGCCCCGCACCCCCCCGGAG	0.614																																						ENST00000441052.1																			0																																																			255031							g.chr7:44080548_44080549insC	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080555_44080555dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1233_1234	+									RNA	INS	ENST00000441052.1	37																																																																																						0.614	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			7	102						7	102	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)tttgcafs	p.A204fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.A204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATGAATCCTGCAAAAAACGTGG	0.446																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(607-612)ttcaggfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87081037_87081038insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.610dupT	7.37:g.87081043_87081043dupA	ENSP00000265723:p.Ala204fs		Somatic				ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs	p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			7	720_721	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		204			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.609_610insT	CCDS5606.1																																																																																				0.446	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		8	690						8	690	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs		Somatic				AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	p.R3747fs			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	141						11	141	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		26	468						26	468	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121719765	121719766	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:121719765_121719766insG	ENST00000393376.1	-	20	2376_2377	c.2281_2282insC	c.(2281-2283)aaa>aCaa	p.K761fs	AASS_ENST00000473553.1_5'UTR|RNU7-154P_ENST00000516194.1_RNA|AASS_ENST00000417368.2_Splice_Site_p.K761fs			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	761	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GAGGAGTTGTTTCTGGTTAGAA	0.356																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.e20-1		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)																																			SO:0001630	splice_region_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121719765_121719766insG	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2281-1->C	7.37:g.121719765_121719766insG			Somatic				AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR	p.T761_splice			WXS	Illumina GAIIx	Phase_I	Q9UDR5	AASS_HUMAN			20	2376_2377	-			761			Saccharopine dehydrogenase.		O95462	Splice_Site	INS	ENST00000393376.1	37	c.2280_splice	CCDS5783.1																																																																																				0.356	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	Frame_Shift_Ins	10	52						10	52	---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134222395	134222396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:134222395_134222396insA	ENST00000359579.4	+	7	1043_1044	c.723_724insA	c.(724-726)aaafs	p.K242fs		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	242					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCGC	0.446																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(721-726)caaaaafs		aldo-keto reductase family 1, member B10 (aldose reductase)																																				SO:0001589	frameshift_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222395_134222396insA	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.730dupA	7.37:g.134222402_134222402dupA	ENSP00000352584:p.Lys242fs		Somatic					p.QK241fs	NM_020299.4	NP_064695.3	WXS	Illumina GAIIx	Phase_I	O60218	AK1BA_HUMAN			7	1043_1044	+			241					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Frame_Shift_Ins	INS	ENST00000359579.4	37	c.723_724insA	CCDS5832.1																																																																																				0.446	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		8	333						8	333	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	486						7	486	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		7	164						7	164	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)caafs	p.Q23fs	CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.Q23fs|NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.Q23fs|CCNE2_ENST00000523476.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(67-69)agafs		cyclin E2																																				SO:0001589	frameshift_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95906294_95906295insG	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.68dupC	8.37:g.95906300_95906300dupG	ENSP00000429089:p.Gln23fs		Somatic				CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs	p.R23fs			WXS	Illumina GAIIx	Phase_I	O96020	CCNE2_HUMAN			3	319_320	-	Breast(36;8.75e-07)		23					O95439	Frame_Shift_Ins	INS	ENST00000520509.1	37	c.67_68insC	CCDS6264.1																																																																																				0.455	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		8	373						8	373	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444|rs386728346|rs62636531	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.MQ3del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(625-633)del		outer dense fiber of sperm tails 1																																				SO:0001651	inframe_deletion	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572984_103572992delTGCAGCCCC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.625_633delTGCAGCCCC	8.37:g.103572993_103573001delTGCAGCCCC	ENSP00000285402:p.Cys215_Pro217del		Somatic				ODF1_ENST00000518835.1_Splice_Site_p.3_splice	p.CSP215del	NM_024410.3	NP_077721.2	WXS	Illumina GAIIx	Phase_I	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	781_789	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		215			C-X-P repeat region.		Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	c.625_633delTGCAGCCCC	CCDS6293.1																																																																																				0.584	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			7	46						7	46	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118832019	118832020	+	Frame_Shift_Ins	INS	-	-	G	rs17439693	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:118832019_118832020insG	ENST00000378204.2	-	6	2237_2238	c.1431_1432insC	c.(1429-1434)ccctccfs	p.S478fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	478					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGAATTTGGAGGGGGGCTTTA	0.52			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CI983089	EXT1	I		c.(1429-1434)ccccaafs		exostosin glycosyltransferase 1																																				SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118832019_118832020insG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1432dupC	8.37:g.118832025_118832025dupG	ENSP00000367446:p.Ser478fs		Somatic					p.Q478fs	NM_000127.2	NP_000118.2	WXS	Illumina GAIIx	Phase_I	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		6	2237_2238	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		478					B2R7V2|Q9BVI9	Frame_Shift_Ins	INS	ENST00000378204.2	37	c.1431_1432insC	CCDS6324.1																																																																																				0.520	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		7	213						7	213	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	418149	418150	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:418149_418150insG	ENST00000453981.1	+	30	3894_3895	c.3782_3783insG	c.(3781-3786)ctggccfs	p.A1262fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.A1162fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.A729fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.A1194fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1262					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGTGGCTCTGGCCATAGCAG	0.441																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3577-3579)cgcfs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:418149_418150insG	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3784dupG	9.37:g.418151_418151dupG	ENSP00000408464:p.Ala1262fs		Somatic				DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs	p.R1193fs	NM_203447.3	NP_982272.2	WXS	Illumina GAIIx	Phase_I	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	30	3894_3895	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1261					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	c.3578_3579insG	CCDS6440.2																																																																																				0.441	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		62	234						62	234	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14307384	14307385	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:14307384_14307385delCT	ENST00000380959.3	-	2	638_639	c.165_166delAG	c.(163-168)agagcafs	p.RA55fs	NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	55					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCTTTGACTGCTCTTTCTTCAT	0.455			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(163-168)agcafs		nuclear factor I/B																																				SO:0001589	frameshift_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307384_14307385delCT	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.165_166delAG	9.37:g.14307386_14307387delCT	ENSP00000370346:p.Arg55fs		Somatic				NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs	p.RA55fs	NM_005596.3	NP_005587.2	WXS	Illumina GAIIx	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	638_639	-			55					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Frame_Shift_Del	DEL	ENST00000380959.3	37	c.165_166delAG	CCDS6474.1																																																																																				0.455	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		12	119						12	119	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		8	237						8	237	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35750946	35750947	+	5'Flank	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:35750946_35750947insA	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Frame_Shift_Ins_p.T150fs|GBA2_ENST00000378094.4_5'Flank|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Frame_Shift_Ins_p.T190fs	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCCTATCACTTTACTCAG	0.55																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(445-450)atctttfs		RGP1 retrograde golgi transport homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	9827							g.chr9:35750946_35750947insA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750947_35750947dupA	Exception_encountered		Somatic				RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs	p.F150fs	NM_001080496.2	NP_001073965.2	WXS	Illumina GAIIx	Phase_I	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	588_589	+	all_epithelial(49;0.167)		150					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Ins	INS	ENST00000378103.3	37	c.447_448insA	CCDS6589.1																																																																																				0.550	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	106						19	106	---	---	---	---
GNE	10020	broad.mit.edu	37	9	36219966	36219970	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:36219966_36219970delAAGGA	ENST00000539815.1	-	9	1721_1725	c.1681_1685delTCCTT	c.(1681-1686)tccttcfs	p.SF561fs	GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000396594.3_Frame_Shift_Del_p.SF592fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	561	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGCAGCACAGAAGGAGCTTCCGTGG	0.502																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1774-1779)cfs		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase																																				SO:0001589	frameshift_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36219966_36219970delAAGGA	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1681_1685delTCCTT	9.37:g.36219966_36219970delAAGGA	ENSP00000439155:p.Ser561fs		Somatic				GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs	p.SF592fs	NM_001128227.2	NP_001121699.1	WXS	Illumina GAIIx	Phase_I	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		10	1885_1889	-			561			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Frame_Shift_Del	DEL	ENST00000539815.1	37	c.1774_1778delTCCTT	CCDS6602.1																																																																																				0.502	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		14	109						14	109	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)cccagtfs	p.S130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(385-390)ccgtgafs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442161_37442162insG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.388dupC	9.37:g.37442167_37442167dupG	ENSP00000307604:p.Ser130fs		Somatic					p.*130fs	NM_014872.2	NP_055687.1	WXS	Illumina GAIIx	Phase_I	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	575_576	-			130						Frame_Shift_Ins	INS	ENST00000307750.4	37	c.387_388insC	CCDS6610.1																																																																																				0.525	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		11	672						11	672	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:77377691_77377692insC	ENST00000360774.1	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)gcafs	p.A1299fs	TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.A1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.A1294fs|TRPM6_ENST00000451710.3_Frame_Shift_Ins_p.A1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.A1294fs	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.48																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3895-3897)actfs		transient receptor potential cation channel, subfamily M, member 6																																				SO:0001589	frameshift_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377691_77377692insC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3896dupG	9.37:g.77377697_77377697dupC	ENSP00000354006:p.Ala1299fs		Somatic				TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs	p.T1299fs			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			26	4132_4133	-			1299					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Frame_Shift_Ins	INS	ENST00000360774.1	37	c.3895_3896insG	CCDS6647.1																																																																																				0.480	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		7	354						7	354	---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87339241	87339241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:87339241delG	ENST00000323115.4	+	7	1176	c.823delG	c.(823-825)gatfs	p.D275fs	NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	275	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGTAGGAGAAGATCAAGATTC	0.438										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(823-825)atfs		neurotrophic tyrosine kinase, receptor, type 2							230.0	218.0	222.0					9																	87339241		2203	4300	6503	SO:0001589	frameshift_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339241delG	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.823delG	9.37:g.87339241delG	ENSP00000314586:p.Asp275fs	TSP Lung(25;0.17)	Somatic				NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs	p.D275fs	NM_001018065.2	NP_001018075.1	WXS	Illumina GAIIx	Phase_I	Q16620	NTRK2_HUMAN			8	1306	+			275			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	37	c.823delG	CCDS35050.1																																																																																				0.438	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			26	972						26	972	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88938010	88938010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:88938010delC	ENST00000375963.3	-	13	2827	c.2655delG	c.(2653-2655)gggfs	p.G885fs	ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.G174fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	885	Glu-rich.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATCCCCTGACCCAGTGTAGG	0.458																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(520-522)ggfs		zinc finger, CCHC domain containing 6							212.0	174.0	187.0					9																	88938010		2203	4300	6503	SO:0001589	frameshift_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938010delC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2655delG	9.37:g.88938010delC	ENSP00000365130:p.Gly885fs		Somatic				ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs	p.G174fs			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			14	2946	-			885					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	ENST00000375963.3	37	c.522delG	CCDS35057.1																																																																																				0.458	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		9	948						9	948	---	---	---	---
ZNF189	7743	broad.mit.edu	37	9	104170501	104170502	+	In_Frame_Ins	INS	-	-	GGA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:104170501_104170502insGGA	ENST00000339664.2	+	3	580_581	c.451_452insGGA	c.(451-453)gaa>gGGAaa	p.151_151E>GK	ZNF189_ENST00000374861.3_In_Frame_Ins_p.137_137E>GK|ZNF189_ENST00000259395.4_In_Frame_Ins_p.109_109E>GK	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	151					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCATAAATGTGAAGAATGTGGA	0.401																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(409-411)aga>GGAaga		zinc finger protein 189																																				SO:0001652	inframe_insertion	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170501_104170502insGGA	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	Exception_encountered	9.37:g.104170501_104170502insGGA	ENSP00000342019:p.Glu151delinsGlyLys		Somatic				ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG|ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG	p.136_137insG	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	WXS	Illumina GAIIx	Phase_I	O75820	ZN189_HUMAN			3	693_694	+		Acute lymphoblastic leukemia(62;0.0559)	150					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	In_Frame_Ins	INS	ENST00000339664.2	37	c.409_410insGGA	CCDS6754.1																																																																																				0.401	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		32	218						32	218	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		9	254						9	254	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs		Somatic				ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	175						7	175	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117186710	117186711	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:117186710_117186711insGT	ENST00000362057.3	-	6	1487_1488	c.1319_1320insAC	c.(1318-1320)gccfs	p.A440fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.A57fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.A89fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	440			A -> T (in dbSNP:rs4978584).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCCATGGTGGCGTGTTCCTG	0.644																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1318-1320)gacfs		deafness, autosomal recessive 31																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117186710_117186711insGT	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1319_1320insAC	9.37:g.117186710_117186711insGT	ENSP00000354623:p.Ala440fs		Somatic				DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs	p.D440fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	WXS	Illumina GAIIx	Phase_I	Q9P202	WHRN_HUMAN			6	1487_1488	-			440		A -> T (in dbSNP:rs4978584).			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1319_1320insAC	CCDS6806.1																																																																																				0.644	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		8	116						8	116	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs	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_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs	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		11	350						11	350	---	---	---	---
CERCAM	51148	broad.mit.edu	37	9	131185522	131185523	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:131185522_131185523insG	ENST00000372838.4	+	3	804_805	c.406_407insG	c.(406-408)tggfs	p.W136fs	CERCAM_ENST00000372842.1_Frame_Shift_Ins_p.W58fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	136					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCCAGGAACTGGGGGGCCGAC	0.545																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(172-174)gggfs		cerebral endothelial cell adhesion molecule																																				SO:0001589	frameshift_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131185522_131185523insG	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.412dupG	9.37:g.131185528_131185528dupG	ENSP00000361929:p.Trp136fs		Somatic				CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.G136fs	p.G58fs			WXS	Illumina GAIIx	Phase_I	Q5T4B2	GT253_HUMAN			4	3316_3317	+			136					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Ins	INS	ENST00000372838.4	37	c.172_173insG	CCDS6901.2																																																																																				0.545	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		9	901						9	901	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134019804	134019805	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:134019804_134019805insC	ENST00000359428.5	+	12	1576_1577	c.1432_1433insC	c.(1432-1434)gccfs	p.A478fs	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A478fs|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A478fs|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	478					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCTGGTGGAGCCCCCACTGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1432-1434)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134019804_134019805insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1437dupC	9.37:g.134019809_134019809dupC	ENSP00000352400:p.Ala478fs		Somatic				RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P478fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P478fs|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA	p.P478fs			WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	12	1576_1577	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	478					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.1432_1433insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	619						7	619	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A1366fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4126-4128)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073007_134073008insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4133dupC	9.37:g.134073014_134073014dupC	ENSP00000352400:p.Ala1376fs		Somatic				NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR	p.P1376fs			WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4270_4271	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1376			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.4126_4127insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		12	261						12	261	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100451	8100452	+	Frame_Shift_Ins	INS	-	-	G	rs200317918	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:8100451_8100452insG	ENST00000346208.3	+	3	880_881	c.425_426insG	c.(424-429)tcggggfs	p.SG142fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.SG142fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.G144fs*51(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCACG	0.728			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		1	Deletion - Frameshift(1)	p.G144fs*51(1)	large_intestine(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(424-426)tggfs		GATA binding protein 3																																				SO:0001589	frameshift_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100451_8100452insG	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.431dupG	10.37:g.8100457_8100457dupG	ENSP00000341619:p.Ser142fs		Somatic				GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs|GATA3_ENST00000461472.1_3'UTR	p.W142fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina GAIIx	Phase_I	P23771	GATA3_HUMAN			3	993_994	+			142			Poly-Ser.		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	ENST00000346208.3	37	c.425_426insG	CCDS7083.1																																																																																				0.728	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		7	123						7	123	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30317904	30317905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:30317904_30317905insG	ENST00000375377.1	-	3	1273_1274	c.1172_1173insC	c.(1171-1173)cctfs	p.P391fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	391	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCAGTTCCAGGGGGGCCTGA	0.609																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1171-1173)cggfs		KIAA1462																																				SO:0001589	frameshift_variant	57608							g.chr10:30317904_30317905insG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1173dupC	10.37:g.30317910_30317910dupG	ENSP00000364526:p.Pro391fs		Somatic					p.R391fs	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	Q9P266	K1462_HUMAN			3	1273_1274	-			391			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Ins	INS	ENST00000375377.1	37	c.1172_1173insC	CCDS41500.1																																																																																				0.609	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	193						7	193	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30653898	30653902	+	Frame_Shift_Del	DEL	TCTCC	TCTCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:30653898_30653902delTCTCC	ENST00000358107.4	-	2	279_283	c.280_284delGGAGA	c.(280-285)ggagatfs	p.GD94fs	RN7SL241P_ENST00000482973.2_RNA|AL161651.1_ENST00000408070.1_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCATCTTCATCTCCTCTTTGTCCT	0.639																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(280-285)tfs		mitochondrial poly(A) polymerase																																				SO:0001589	frameshift_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653898_30653902delTCTCC	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.280_284delGGAGA	10.37:g.30653898_30653902delTCTCC	ENSP00000350820:p.Gly94fs		Somatic				MTPAP_ENST00000488290.1_5'UTR	p.GD94fs			WXS	Illumina GAIIx	Phase_I	Q9NVV4	PAPD1_HUMAN			2	279_283	-			0					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Frame_Shift_Del	DEL	ENST00000358107.4	37	c.280_284delGGAGA																																																																																					0.639	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		8	17						8	17	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	324						9	324	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33502391	33502391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:33502391delT	ENST00000265371.4	-	10	2062	c.1537delA	c.(1537-1539)aggfs	p.R513fs	NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000432372.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374875.1_Frame_Shift_Del_p.R332fs|NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs			O14786	NRP1_HUMAN	neuropilin 1	513	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAACTTCCTCATGAACACC	0.537																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1537-1539)ggfs		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						247.0	212.0	224.0					10																	33502391		2203	4300	6503	SO:0001589	frameshift_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502391delT	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1537delA	10.37:g.33502391delT	ENSP00000265371:p.Arg513fs		Somatic				NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR	p.R513fs			WXS	Illumina GAIIx	Phase_I	O14786	NRP1_HUMAN			10	2062	-			513			F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Frame_Shift_Del	DEL	ENST00000265371.4	37	c.1537delA	CCDS7177.1																																																																																				0.537	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			12	1019						12	1019	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccctccfs	p.S1335fs	PARD3_ENST00000374794.3_Frame_Shift_Ins_p.S1223fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.S1275fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.S1298fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.S1289fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.S1319fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.S1245fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.S1332fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1335					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAGAAGGGGAGGGGGGCACAT	0.579																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4000-4005)ccccccfs		par-3 family cell polarity regulator			,,,,,,,	3,4261		0,3,2129					,,,,,,,	6.2	0.8			48	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	PARD3	NM_019619.3,NM_001184791.1,NM_001184790.1,NM_001184789.1,NM_001184788.1,NM_001184787.1,NM_001184786.1,NM_001184785.1	,,,,,,,	0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024	,,,,,,,	,,,,,,,		3,12515				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400165_34400166insG	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4003dupC	10.37:g.34400171_34400171dupG	ENSP00000363921:p.Ser1335fs		Somatic				PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs	p.PP1334fs	NM_019619.3	NP_062565.2	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			25	4327_4328	-		Breast(68;0.0707)	1334					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	ENST00000374789.3	37	c.4002_4003insC	CCDS7178.1																																																																																				0.579	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		10	1447						10	1447	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs		Somatic				NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	p.S596fs	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		9	500						9	500	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron	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	22	415						22	415	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs		Somatic				SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		12	1107						12	1107	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103906659	103906660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:103906659_103906660insC	ENST00000278070.2	+	9	3949_3950	c.3910_3911insC	c.(3910-3912)accfs	p.T1304fs	PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.T271fs|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1304					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)		CCGGAGCAGGACCCCCCCAAAA	0.569																																						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.(3910-3912)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.chr10:103906659_103906660insC	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.3917dupC	10.37:g.103906666_103906666dupC	ENSP00000278070:p.Thr1304fs		Somatic				PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000489648.1_Intron	p.P1304fs	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)	9	3949_3950	+		Colorectal(252;0.122)	1304					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.3910_3911insC	CCDS7529.1																																																																																				0.569	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	115						7	115	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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				AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	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		7	661						7	661	---	---	---	---
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)cggfs	p.R56fs	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Frame_Shift_Ins_p.R56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.R56fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Ins_p.R56fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(166-168)gggfs		integrin-linked kinase																																				SO:0001589	frameshift_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6629352_6629353insG	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.172dupG	11.37:g.6629358_6629358dupG	ENSP00000379975:p.Arg56fs		Somatic				ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs	p.G56fs	NM_001014795.1	NP_001014795.1	WXS	Illumina GAIIx	Phase_I	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	2	622_623	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	56			Interaction with LIMS1.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Ins	INS	ENST00000396751.2	37	c.166_167insG	CCDS7768.1																																																																																				0.564	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		9	275						9	275	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:19955425_19955426insG	ENST00000396087.3	+	8	1803_1804	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	NAV2_ENST00000396085.1_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.G498fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.G482fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.G500fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	569					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1633-1638)aaggggfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955425_19955426insG	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1710dupG	11.37:g.19955431_19955431dupG	ENSP00000379396:p.Gly569fs		Somatic				NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	p.KG545fs	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			7	1996_1997	+			568					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.1635_1636insG	CCDS58126.1																																																																																				0.554	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	748						9	748	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs		Somatic				PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs	p.D101fs	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		35	444						35	444	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs		Somatic				LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1835fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	132						8	132	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46897491	46897492	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:46897491_46897492insC	ENST00000378623.1	-	26	3804_3805	c.3562_3563insG	c.(3562-3564)gagfs	p.E1188fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1188					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTTGGCATTCTCCCCCCAGTCT	0.485																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3562-3564)gaafs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897491_46897492insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3563dupG	11.37:g.46897497_46897497dupC	ENSP00000367888:p.Glu1188fs		Somatic					p.E1188fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	26	3804_3805	-			1188					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.3562_3563insG	CCDS31478.1																																																																																				0.485	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	177						9	177	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	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		11	253						11	253	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs		Somatic				ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	WXS	Illumina GAIIx	Phase_I	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		11	313						11	313	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	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		22	705						22	705	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs		Somatic					p.G160fs	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		7	215						7	215	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				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						AATGATGATGGCCCCCCCAAAG	0.49								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.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_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.chr11:61093159_61093160insC	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.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		11	124						11	124	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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	10	219						10	219	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	451						8	451	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000496746.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs		Somatic				YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs	p.A131fs	NM_020470.2	NP_065203.2	WXS	Illumina GAIIx	Phase_I	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		9	138						9	138	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			13	390						13	390	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321760	66321760	+	RNA	DEL	C	C	-	rs147846428|rs59749879		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66321760delC	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						acaaaaaataccaaaaaaaaa	0.498																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321760delC	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321760delC			Somatic				ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	WXS	Illumina GAIIx	Phase_I	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	DEL	ENST00000502692.1	37																																																																																						0.498	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		8	7						8	7	---	---	---	---
KLHL35	283212	broad.mit.edu	37	11	75134761	75134762	+	Frame_Shift_Ins	INS	-	-	C	rs376473471		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:75134761_75134762insC	ENST00000539798.1	-	5	1536_1537	c.1537_1538insG	c.(1537-1539)gagfs	p.E513fs	KLHL35_ENST00000376292.4_Frame_Shift_Ins_p.E293fs	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	513										lung(2)|stomach(1)	3						GACAGCTGCCTCCCCCCACACA	0.564																																					Colon(77;683 1691 18820 23811)	ENST00000539798.1																			0				lung(2)|stomach(1)	3						c.(1537-1539)ggcfs		kelch-like family member 35																																				SO:0001589	frameshift_variant	283212							g.chr11:75134761_75134762insC		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1538dupG	11.37:g.75134767_75134767dupC	ENSP00000438526:p.Glu513fs		Somatic				KLHL35_ENST00000376292.4_Frame_Shift_Ins_p.G293fs	p.G513fs	NM_001039548.2	NP_001034637.2	WXS	Illumina GAIIx	Phase_I	Q6PF15	KLH35_HUMAN			5	1536_1537	-			293					A2RU06|F5H412|Q86XM7|Q8NBB1	Frame_Shift_Ins	INS	ENST00000539798.1	37	c.1537_1538insG	CCDS44685.2																																																																																				0.564	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		8	479						8	479	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93839155	93839158	+	Splice_Site	DEL	AGCC	AGCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:93839155_93839158delAGCC	ENST00000315765.9	+	17	2913_2915	c.2905_2907delAGCC	c.(2905-2907)agcdel	p.S969fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACCTTTTAAAGCCATTAATGGAA	0.333																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.e17-1		hephaestin-like 1																																				SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93839155_93839158delAGCC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2906-1AGCC>-	11.37:g.93839155_93839158delAGCC			Somatic					p.969_splice	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			17	2913_2915	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	969			Plastocyanin-like 6.		Q3C1W7	Splice_Site	DEL	ENST00000315765.9	37	c.2905_splice	CCDS44710.1																																																																																				0.333	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Frame_Shift_Del	20	81						20	81	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		10	852						10	852	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		7	597						7	597	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)tgafs		forkhead box M1																																				SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968087_2968088insG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2009dupC	12.37:g.2968094_2968094dupG	ENSP00000352901:p.Leu670fs		Somatic				FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs	p.*708fs	NM_202002.2	NP_973731.1	WXS	Illumina GAIIx	Phase_I	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235_2236	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Ins	INS	ENST00000359843.3	37	c.2122_2123insC	CCDS8515.1																																																																																				0.579	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		7	126						7	126	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			9	425						9	425	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53233701	53233702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:53233701_53233702insC	ENST00000304620.4	-	7	1177_1178	c.1114_1115insG	c.(1114-1116)cagfs	p.Q372fs	KRT78_ENST00000359499.4_Frame_Shift_Ins_p.Q262fs	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	372	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCTTGGCCTGAGCGTCCTTG	0.634																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(784-786)ggcfs		keratin 78																																				SO:0001589	frameshift_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233701_53233702insC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1114_1115insG	12.37:g.53233701_53233702insC	ENSP00000306261:p.Gln372fs		Somatic				KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs	p.G262fs			WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			7	795_796	-			372			Linker 12.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	ENST00000304620.4	37	c.784_785insG	CCDS8840.1																																																																																				0.634	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		20	189						20	189	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	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			11	375						11	375	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					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)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)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.chr12:54971059_54971060insC	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.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			12	394						12	394	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			9	1120						9	1120	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			9	544						9	544	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3487-3489)cccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558259_56558260insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs		Somatic				SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|RP11-977G19.5_ENST00000553176.1_RNA	p.P1163fs			WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			8	348						8	348	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000418572.2_3'UTR|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		18	297						18	297	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000544561.1_Intron|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		7	220						7	220	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_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		19	563						19	563	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99640442	99640444	+	In_Frame_Del	DEL	TTG	TTG	-	rs550627459		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:99640442_99640444delTTG	ENST00000547776.2	-	13	1954_1956	c.1955_1957delCAA	c.(1954-1959)ccaata>cta	p.652_653PI>L	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_In_Frame_Del_p.232_233PI>L|ANKS1B_ENST00000329257.7_In_Frame_Del_p.652_653PI>L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	652						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTATTTTCTATTGGAGACTGCTT	0.36																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1954-1959)cta>c		ankyrin repeat and sterile alpha motif domain containing 1B																																				SO:0001651	inframe_deletion	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640442_99640444delTTG	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1955_1957delCAA	12.37:g.99640442_99640444delTTG	ENSP00000449629:p.Pro652_Ile653delinsLeu		Somatic				ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del	p.PI652del	NM_152788.4	NP_690001.3	WXS	Illumina GAIIx	Phase_I	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1954_1956	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	652					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	In_Frame_Del	DEL	ENST00000547776.2	37	c.1955_1957delCAA	CCDS55872.1																																																																																				0.360	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		54	128						54	128	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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	758						19	758	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104049316	104049317	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:104049316_104049317insAG	ENST00000388887.2	+	15	1895_1896	c.1691_1692insAG	c.(1690-1695)aataacfs	p.NN564fs	RP11-341G23.2_ENST00000551905.1_RNA	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						GAAGCATTGAATAACATGAAGG	0.455																																						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.(1690-1692)aaafs		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.chr12:104049316_104049317insAG	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	Exception_encountered	12.37:g.104049316_104049317insAG	ENSP00000373539:p.Asn564fs		Somatic				RP11-341G23.2_ENST00000551905.1_RNA	p.K564fs	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			15	1895_1896	+			564			FAS1 2.			Frame_Shift_Ins	INS	ENST00000388887.2	37	c.1691_1692insAG	CCDS31888.1																																																																																				0.455	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	329						7	329	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs|RNA5SP372_ENST00000390836.1_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs		Somatic				USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		7	875						7	875	---	---	---	---
MVK	4598	broad.mit.edu	37	12	110029061	110029062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:110029061_110029062insC	ENST00000228510.3	+	9	860_861	c.784_785insC	c.(784-786)gccfs	p.A262fs	MVK_ENST00000539575.1_Frame_Shift_Ins_p.A210fs|MVK_ENST00000541384.1_Frame_Shift_Ins_p.A68fs|MVK_ENST00000539696.1_5'UTR|MVK_ENST00000392727.3_Frame_Shift_Ins_p.A210fs	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	262					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AGAGATCGTGGCCCCCCTCCTG	0.634																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(784-786)cccfs		mevalonate kinase																																				SO:0001589	frameshift_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110029061_110029062insC	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.790dupC	12.37:g.110029067_110029067dupC	ENSP00000228510:p.Ala262fs		Somatic				MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000539696.1_5'UTR|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs	p.P262fs	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	WXS	Illumina GAIIx	Phase_I	Q03426	KIME_HUMAN			9	860_861	+			262						Frame_Shift_Ins	INS	ENST00000228510.3	37	c.784_785insC	CCDS9132.1																																																																																				0.634	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		8	423						8	423	---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113405382	113405383	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:113405382_113405383delAG	ENST00000228928.7	+	13	3028_3029	c.2849_2850delAG	c.(2848-2850)aagfs	p.K950fs	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	950	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGCTGGTGAAGCACTGGTACC	0.584																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2848-2850)afs		2'-5'-oligoadenylate synthetase 3, 100kDa																																				SO:0001589	frameshift_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405382_113405383delAG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2849_2850delAG	12.37:g.113405382_113405383delAG	ENSP00000228928:p.Lys950fs		Somatic				RP1-71H24.1_ENST00000552784.1_RNA	p.K950fs	NM_006187.2	NP_006178.2	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			13	3028_3029	+			950			OAS domain 3.		Q2HJ14|Q9H3P5	Frame_Shift_Del	DEL	ENST00000228928.7	37	c.2849_2850delAG	CCDS44981.1																																																																																				0.584	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	61						23	61	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:113565942_113565943insC	ENST00000261729.5	-	4	478_479	c.163_164insG	c.(163-165)gagfs	p.E55fs	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000546530.1_Frame_Shift_Ins_p.E55fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)ggafs		RAS protein activator like 1 (GAP1 like)																																				SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565942_113565943insC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.164dupG	12.37:g.113565948_113565948dupC	ENSP00000261729:p.Glu55fs		Somatic				RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs	p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	WXS	Illumina GAIIx	Phase_I	O95294	RASL1_HUMAN			4	448_449	-			55			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Ins	INS	ENST00000261729.5	37	c.163_164insG	CCDS9165.1																																																																																				0.614	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		7	694						7	694	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs		Somatic				PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron	p.G16fs			WXS	Illumina GAIIx	Phase_I	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		16	596						16	596	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		18	229						18	229	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45149854	45149855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:45149854_45149855insG	ENST00000458659.2	-	1	846_847	c.356_357insC	c.(355-357)gctfs	p.A119fs	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	119					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGAGATCTGAGCAGGAGTAAC	0.49																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(355-357)gcafs		TSC22 domain family, member 1																																				SO:0001589	frameshift_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149854_45149855insG	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.357dupC	13.37:g.45149855_45149855dupG	ENSP00000397435:p.Ala119fs		Somatic				TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	p.A119fs	NM_183422.3	NP_904358.2	WXS	Illumina GAIIx	Phase_I	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	846_847	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	119					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Ins	INS	ENST00000458659.2	37	c.356_357insC	CCDS31966.1																																																																																				0.490	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	104						7	104	---	---	---	---
ITM2B	9445	broad.mit.edu	37	13	48835348	48835348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:48835348delA	ENST00000378565.5	+	6	992	c.789delA	c.(787-789)ttafs	p.L263fs	ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	263					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TGGAAACTTTAATTTGTTCTT	0.333																																						ENST00000378565.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(787-789)ttfs		integral membrane protein 2B							49.0	53.0	52.0					13																	48835348		2203	4299	6502	SO:0001589	frameshift_variant	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48835348delA	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.789delA	13.37:g.48835348delA	ENSP00000367828:p.Leu263fs		Somatic				ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	p.L263fs	NM_021999.4	NP_068839.1	WXS	Illumina GAIIx	Phase_I	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	6	992	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	263					Q5W0A3|Q96B24|Q9NYH1	Frame_Shift_Del	DEL	ENST00000378565.5	37	c.789delA	CCDS9409.1																																																																																				0.333	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		11	94						11	94	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77672710	77672711	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:77672710_77672711insCAAT	ENST00000544440.2	-	56	8481_8482	c.8464_8465insATTG	c.(8464-8466)acafs	p.T2822fs	MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.T2860fs|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.T345fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.T2822fs|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAGCTTTGTCTTAACAGGA	0.47																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8578-8580)aaafs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672710_77672711insCAAT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8464_8465insATTG	13.37:g.77672710_77672711insCAAT	ENSP00000444596:p.Thr2822fs		Somatic				MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs	p.K2860fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8844_8845	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2822						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.8578_8579insATTG																																																																																					0.470	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		126	409						126	409	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_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_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_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		7	362						7	362	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(448-450)aggfs		olfactory receptor, family 4, subfamily M, member 1																																				SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248930_20248931insG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.455dupG	14.37:g.20248936_20248936dupG	ENSP00000319654:p.Met150fs		Somatic					p.R150fs	NM_001005500.1	NP_001005500.1	WXS	Illumina GAIIx	Phase_I	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	530_531	+	all_cancers(95;0.00108)		150					B9EH18|Q6IFA3	Frame_Shift_Ins	INS	ENST00000315957.4	37	c.449_450insG	CCDS32021.1																																																																																				0.505	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			11	873						11	873	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20295776_20295777insC	ENST00000315947.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.A57fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 2																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295776_20295777insC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.175dupC	14.37:g.20295782_20295782dupC	ENSP00000319601:p.Ala57fs		Somatic				OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.P57fs	p.P57fs			WXS	Illumina GAIIx	Phase_I	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.169_170insC	CCDS32022.1																																																																																				0.475	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			9	673						9	673	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs		Somatic				TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	201						11	201	---	---	---	---
RNASE6	6039	broad.mit.edu	37	14	21250266	21250267	+	Frame_Shift_Ins	INS	-	-	C	rs372997201		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:21250266_21250267insC	ENST00000304677.2	+	2	701_702	c.408_409insC	c.(409-411)cccfs	p.P137fs	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	137					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGAAGAGCGATCCCCCCTACAA	0.465																																						ENST00000304677.2																			0				large_intestine(1)	1						c.(406-411)gaccccfs		ribonuclease, RNase A family, k6																																				SO:0001589	frameshift_variant	6039				defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21250266_21250267insC	U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.414dupC	14.37:g.21250272_21250272dupC	ENSP00000302046:p.Pro137fs		Somatic					p.DP136fs	NM_005615.4	NP_005606.1	WXS	Illumina GAIIx	Phase_I	Q93091	RNAS6_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	701_702	+	all_cancers(95;0.00406)		136						Frame_Shift_Ins	INS	ENST00000304677.2	37	c.408_409insC	CCDS9558.1																																																																																				0.465	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2			7	664						7	664	---	---	---	---
TPPP2	122664	broad.mit.edu	37	14	21499213	21499214	+	In_Frame_Ins	INS	-	-	AAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:21499213_21499214insAAT	ENST00000321760.6	+	3	364_365	c.216_217insAAT	c.(217-219)gca>AATgca	p.72_73insN	RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_73insN|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_73insN	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	72						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGTTCAAAGAGGCAGTGAAGGA	0.5																																						ENST00000321760.6																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(214-219)gacagt>gaAATcagt		tubulin polymerization-promoting protein family member 2																																				SO:0001652	inframe_insertion	122664					cytoplasm		g.chr14:21499213_21499214insAAT	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	Exception_encountered	14.37:g.21499213_21499214insAAT	ENSP00000317595:p.Glu72_Ala73insAsn		Somatic				NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI	p.72_72D>EI	NM_173846.4	NP_776245.2	WXS	Illumina GAIIx	Phase_I	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	364_365	+	all_cancers(95;0.000759)		72					Q2VYF3	In_Frame_Ins	INS	ENST00000321760.6	37	c.216_217insAAT	CCDS9566.1																																																																																				0.500	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		10	471						10	471	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)ctgfs	p.L255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.49																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(763-765)gtgfs		cathepsin G																																				SO:0001589	frameshift_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042847_25042848insG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.764dupC	14.37:g.25042853_25042853dupG	ENSP00000216336:p.Leu255fs		Somatic					p.V255fs	NM_001911.2	NP_001902.1	WXS	Illumina GAIIx	Phase_I	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	799_800	-			255					Q6IBJ6|Q9UCA5|Q9UCU6	Frame_Shift_Ins	INS	ENST00000216336.2	37	c.763_764insC	CCDS9631.1																																																																																				0.490	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		7	935						7	935	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs		Somatic				PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs	p.G119fs	NM_001206673.1	NP_001193602.1	WXS	Illumina GAIIx	Phase_I	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			8	422						8	422	---	---	---	---
TMX1	81542	broad.mit.edu	37	14	51716243	51716244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:51716243_51716244insT	ENST00000457354.2	+	6	672_673	c.547_548insT	c.(547-549)gttfs	p.V183fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	183					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						ATCATATACTGTTTTTGCTTTA	0.307																																						ENST00000457354.2																			0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(547-549)tttfs		thioredoxin-related transmembrane protein 1																																				SO:0001589	frameshift_variant	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51716243_51716244insT	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.552dupT	14.37:g.51716248_51716248dupT	ENSP00000393316:p.Val183fs		Somatic					p.F183fs	NM_030755.4	NP_110382.3	WXS	Illumina GAIIx	Phase_I	Q9H3N1	TMX1_HUMAN			6	672_673	+			183					B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Frame_Shift_Ins	INS	ENST00000457354.2	37	c.547_548insT	CCDS41953.1																																																																																				0.307	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		7	790						7	790	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		20	474						20	474	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		8	138						8	138	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89878533	89878534	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:89878533_89878534insG	ENST00000345097.4	-	2	403_404	c.287_288insC	c.(286-288)ccafs	p.P96fs	FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.P96fs|RP11-33N16.3_ENST00000555070.1_RNA|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.P96fs|FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.P96fs	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	96					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGTC	0.589																																						ENST00000345097.4																			2	Deletion - Frameshift(2)	p.P96fs*42(2)	large_intestine(2)	endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(286-288)ctcfs		forkhead box N3																																				SO:0001589	frameshift_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878533_89878534insG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.288dupC	14.37:g.89878540_89878540dupG	ENSP00000343288:p.Pro96fs		Somatic				FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.L96fs	p.L96fs	NM_001085471.1	NP_001078940.1	WXS	Illumina GAIIx	Phase_I	O00409	FOXN3_HUMAN			2	403_404	-			96					Q96II7|Q9UIE7	Frame_Shift_Ins	INS	ENST00000345097.4	37	c.287_288insC	CCDS41977.1																																																																																				0.589	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		9	162						9	162	---	---	---	---
CHORDC2P	317775	broad.mit.edu	37	14	90203668	90203668	+	RNA	DEL	C	C	-	rs12897726|rs144915275		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:90203668delC	ENST00000555070.1	-	0	170																											CTCTTTCTTTCtttttttttt	0.368																																						ENST00000555070.1																			0																																																			317775							g.chr14:90203668delC																													14.37:g.90203668delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	170	-									RNA	DEL	ENST00000555070.1	37																																																																																						0.368	RP11-33N16.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000411023.1			4	2						4	2	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92563097	92563098	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:92563097_92563098delGC	ENST00000532032.1	-	2	118_119	c.109_110delGC	c.(109-111)gcafs	p.A37fs	ATXN3_ENST00000545170.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs			P54252	ATX3_HUMAN	ataxin 3	37	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CAGCTGATGTGCAATTGAGGAT	0.396																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(109-111)afs		ataxin 3																																				SO:0001589	frameshift_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92563097_92563098delGC	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.109_110delGC	14.37:g.92563097_92563098delGC	ENSP00000437157:p.Ala37fs		Somatic				ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000340660.6_Intron	p.A37fs	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	WXS	Illumina GAIIx	Phase_I	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	2	177_178	-		all_cancers(154;0.0768)	37			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Frame_Shift_Del	DEL	ENST00000532032.1	37	c.109_110delGC																																																																																					0.396	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		29	243						29	243	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94046588	94046589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:94046588_94046589insG	ENST00000393151.2	+	19	2527_2528	c.2527_2528insG	c.(2527-2529)tggfs	p.W843fs	UNC79_ENST00000555664.1_Frame_Shift_Ins_p.W843fs|UNC79_ENST00000553484.1_Frame_Shift_Ins_p.W843fs|UNC79_ENST00000256339.4_Frame_Shift_Ins_p.W666fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	843					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)		p.I654_H670del(1)|p.G668fs*34(1)		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						CCAAGCCCCCTGGGGGGGATCC	0.45																																						ENST00000553484.1																			2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.I654_H670del(1)|p.G668fs*34(1)	ovary(1)|breast(1)	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.(2527-2529)gggfs		unc-79 homolog (C. elegans)																																				SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:94046588_94046589insG	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.2534dupG	14.37:g.94046595_94046595dupG	ENSP00000376858:p.Trp843fs		Somatic				UNC79_ENST00000256339.4_Frame_Shift_Ins_p.G666fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.G843fs|UNC79_ENST00000393151.2_Frame_Shift_Ins_p.G843fs	p.G843fs			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			19	2681_2682	+			843					B5MDL6|Q6ZUT7	Frame_Shift_Ins	INS	ENST00000393151.2	37	c.2527_2528insG																																																																																					0.450	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	263						7	263	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95669613	95669614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:95669613_95669614insG	ENST00000298912.4	-	9	2185_2186	c.2072_2073insC	c.(2071-2073)ccafs	p.P691fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	691					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CACAGCTGCTTGGGGGGCTGGA	0.559																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2071-2073)cagfs		calmin (calponin-like, transmembrane)																																				SO:0001589	frameshift_variant	79789					integral to membrane	actin binding	g.chr14:95669613_95669614insG	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2073dupC	14.37:g.95669619_95669619dupG	ENSP00000298912:p.Pro691fs		Somatic					p.Q691fs	NM_024734.3	NP_079010.2	WXS	Illumina GAIIx	Phase_I	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2185_2186	-			691					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Ins	INS	ENST00000298912.4	37	c.2072_2073insC	CCDS9933.1																																																																																				0.559	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			7	358						7	358	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			11	346						11	346	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889765	23889766	+	Frame_Shift_Ins	INS	-	-	CTCA	rs398122418		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:23889765_23889766insCTCA	ENST00000532292.1	-	1	1409_1410	c.1315_1316insTGAG	c.(1315-1317)cagfs	p.Q439fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	322	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCGAGCGCTGGACAGGCACC	0.5																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1315-1317)gcgfs		MAGE-like 2																																				SO:0001589	frameshift_variant	54551							g.chr15:23889765_23889766insCTCA	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1315_1316insTGAG	15.37:g.23889765_23889766insCTCA	ENSP00000433433:p.Gln439fs		Somatic					p.A439fs	NM_019066.4	NP_061939.3	WXS	Illumina GAIIx	Phase_I				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1409_1410	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Frame_Shift_Ins	INS	ENST00000532292.1	37	c.1315_1316insTGAG																																																																																					0.500	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	34						19	34	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					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)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						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.(9457-9462)ctccccfs		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.chr15:34078053_34078054insC		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.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	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)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	279						9	279	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		8	145						8	145	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			10	274						10	274	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52643648	52643649	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:52643648_52643649insT	ENST00000399231.3	-	28	3894_3895	c.3651_3652insA	c.(3649-3654)aaactgfs	p.L1218fs	MYO5A_ENST00000358212.6_Frame_Shift_Ins_p.L1218fs|MYO5A_ENST00000356338.6_Frame_Shift_Ins_p.L1218fs|MYO5A_ENST00000399233.2_Frame_Shift_Ins_p.L1218fs|MYO5A_ENST00000553916.1_Frame_Shift_Ins_p.L1218fs	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1218					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATTCTTCAGTTTTTTGTTTT	0.47																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3649-3654)aatgaafs		myosin VA (heavy chain 12, myoxin)																																				SO:0001589	frameshift_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52643648_52643649insT		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3652dupA	15.37:g.52643654_52643654dupT	ENSP00000382177:p.Leu1218fs		Somatic				MYO5A_ENST00000399233.2_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000553916.1_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000356338.6_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000358212.6_Frame_Shift_Ins_p.NE1217fs	p.NE1217fs	NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	28	3894_3895	-			1217					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Frame_Shift_Ins	INS	ENST00000399231.3	37	c.3651_3652insA	CCDS42037.1																																																																																				0.470	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	1774						7	1774	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs		Somatic					p.V4385fs	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	251						7	251	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90188350	90188351	+	Frame_Shift_Ins	INS	-	-	G	rs571373108|rs147779399		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:90188350_90188351insG	ENST00000394412.3	-	10	2160_2161	c.2084_2085insC	c.(2083-2085)cctfs	p.P695fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	695	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCTGTGGCAGGGGGGACCTG	0.639																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2083-2085)cgcfs		kinesin family member 7																																				SO:0001589	frameshift_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90188350_90188351insG	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2085dupC	15.37:g.90188356_90188356dupG	ENSP00000377934:p.Pro695fs		Somatic					p.R695fs	NM_198525.2	NP_940927.2	WXS	Illumina GAIIx	Phase_I	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		10	2160_2161	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		695					Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Ins	INS	ENST00000394412.3	37	c.2084_2085insC	CCDS32325.2																																																																																				0.639	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		10	322						10	322	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		8	359						8	359	---	---	---	---
LINS	55180	broad.mit.edu	37	15	101109855	101109856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:101109855_101109856insG	ENST00000314742.8	-	7	2083_2084	c.1861_1862insC	c.(1861-1863)cggfs	p.R621fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	621								p.R621fs*13(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGAGAGGCCCGGGGGGAAGAC	0.525																																						ENST00000314742.8																			1	Insertion - Frameshift(1)	p.R621fs*13(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(1861-1863)ggcfs		lines homolog (Drosophila)																																				SO:0001589	frameshift_variant	55180							g.chr15:101109855_101109856insG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1862dupC	15.37:g.101109861_101109861dupG	ENSP00000318423:p.Arg621fs		Somatic					p.G621fs	NM_001040616.2	NP_001035706.1	WXS	Illumina GAIIx	Phase_I	Q8NG48	LINES_HUMAN			7	2083_2084	-			621					Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	37	c.1861_1862insC	CCDS10385.1																																																																																				0.525	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		19	1515						19	1515	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)accfs	p.T46fs	MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000586183.1_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_ENST00000588994.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_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	655						7	655	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			21	2004						21	2004	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		13	547						13	547	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		10	68						10	68	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		7	539						7	539	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs		Somatic				SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		10	657						10	657	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		10	217						10	217	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		25	790						25	790	---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56977180	56977181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:56977180_56977181insC	ENST00000439977.2	+	8	1351_1352	c.1154_1155insC	c.(1153-1158)ggccccfs	p.GP385fs	HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.GP384fs|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.GP360fs|HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.GP226fs	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	385					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTCCAGAAGGCCCCCCAGCCA	0.53			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(1153-1155)gccfs		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1																																				SO:0001589	frameshift_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977180_56977181insC	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1160dupC	16.37:g.56977186_56977186dupC	ENSP00000409555:p.Gly385fs		Somatic				HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.A226fs|HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.A360fs|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.A384fs	p.A385fs	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	WXS	Illumina GAIIx	Phase_I	Q15011	HERP1_HUMAN			8	1351_1352	+			385					E9PGD1|O60644|Q6IAN8|Q96D92	Frame_Shift_Ins	INS	ENST00000439977.2	37	c.1154_1155insC	CCDS10771.1																																																																																				0.530	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			11	813						11	813	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		14	265						14	265	---	---	---	---
PLA2G15	23659	broad.mit.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)tggfs	p.W230fs	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.W136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.LG188fs|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(688-690)gggfs		phospholipase A2, group XV				11,4251		0,11,2120						5.6	1.0			28	14,8240		0,14,4113	no	frameshift	PLA2G15	NM_012320.3		0,25,6233	A1A1,A1R,RR		0.1696,0.2581,0.1997				25,12491				SO:0001589	frameshift_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289854_68289855insG	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.695dupG	16.37:g.68289861_68289861dupG	ENSP00000219345:p.Trp230fs		Somatic				PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs	p.G230fs	NM_012320.3	NP_036452.1	WXS	Illumina GAIIx	Phase_I	Q8NCC3	PAG15_HUMAN			5	771_772	+			230					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Ins	INS	ENST00000219345.5	37	c.688_689insG	CCDS10864.1																																																																																				0.629	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		12	206						12	206	---	---	---	---
HP	3240	broad.mit.edu	37	16	72093094	72093095	+	Intron	INS	-	-	CTGAGCA	rs573073579	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:72093094_72093095insCTGAGCA	ENST00000355906.5	+	6	500				HPR_ENST00000356967.5_Intron|HP_ENST00000569639.1_Frame_Shift_Ins_p.-92fs|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Intron|HP_ENST00000357763.4_Intron|HP_ENST00000570083.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin						acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCAGGTGGGTGCTGAGCACTTA	0.52														169	0.033746	0.0908	0.0159	5008	,	,		18348	0.003		0.0338	False		,,,				2504	0.001					ENST00000569639.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(271-273)ttgfs		haptoglobin			,	115,3291		54,7,1642					,	1.1	0.0		dbSNP_130	111	55,7727		21,13,3857	no	intron,intron	HP	NM_005143.3,NM_001126102.1	,	75,20,5499	A1A1,A1R,RR		0.7068,3.3764,1.5195	,	,		170,11018				SO:0001627	intron_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72093094_72093095insCTGAGCA		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.442+7->CTGAGCA	16.37:g.72093095_72093101dupCTGAGCA			Somatic				HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000570083.1_Intron|HP_ENST00000565574.1_Intron	p.L91fs			WXS	Illumina GAIIx	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	4	302_303	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	92			Sushi 2.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Frame_Shift_Ins	INS	ENST00000355906.5	37	c.272_273insCTGAGCA	CCDS45524.1																																																																																				0.520	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		9	246						9	246	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74660329	74660329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:74660329delA	ENST00000361070.4	-	12	2190	c.2093delT	c.(2092-2094)ctafs	p.L699fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	699					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTTGGTCAATAGTTTGCAAGT	0.468																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(2092-2094)cafs		ring finger and WD repeat domain 3							206.0	186.0	192.0					16																	74660329		2198	4300	6498	SO:0001589	frameshift_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74660329delA	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2093delT	16.37:g.74660329delA	ENSP00000354361:p.Leu699fs		Somatic				RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	p.L699fs	NM_018124.3	NP_060594.3	WXS	Illumina GAIIx	Phase_I	Q6PCD5	RFWD3_HUMAN			12	2190	-			699					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Del	DEL	ENST00000361070.4	37	c.2093delT	CCDS32486.1																																																																																				0.468	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		30	677						30	677	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		11	523						11	523	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs		Somatic				PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs	p.A242fs			WXS	Illumina GAIIx	Phase_I	Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			8	173						8	173	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		10	179						10	179	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10369888	10369889	+	Frame_Shift_Ins	INS	-	-	C	rs143441825	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:10369888_10369889insC	ENST00000255381.2	-	3	284_285	c.174_175insG	c.(172-177)gggaagfs	p.K59fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCCC	0.46																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(172-177)ggaggtfs		myosin, heavy chain 4, skeletal muscle																																				SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369888_10369889insC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.175dupG	17.37:g.10369894_10369894dupC	ENSP00000255381:p.Lys59fs		Somatic				CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.G59fs	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			3	284_285	-			59			Myosin head-like.			Frame_Shift_Ins	INS	ENST00000255381.2	37	c.174_175insG	CCDS11154.1																																																																																				0.460	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	529						8	529	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	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		39	816						39	816	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs		Somatic				ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	670						7	670	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000578109.1_Intron			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs		Somatic				PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs	p.L24fs			WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		7	364						7	364	---	---	---	---
TTC25	83538	broad.mit.edu	37	17	40104559	40104560	+	RNA	INS	-	-	A	rs61095073|rs11369140		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40104559_40104560insA	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				accctcactccaaaaaaaaaaa	0.416																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25																																						83538					cytoplasm	protein binding	g.chr17:40104559_40104560insA	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40104570_40104570dupA			Somatic								WXS	Illumina GAIIx	Phase_I	Q96NG3	TTC25_HUMAN			0	1213	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	INS	ENST00000591658.1	37																																																																																						0.416	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		9	25						9	25	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		11	229						11	229	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40468878	40468879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40468878_40468879insG	ENST00000264657.5	-	23	2497_2498	c.2185_2186insC	c.(2185-2187)cgcfs	p.R729fs	STAT3_ENST00000588969.1_Frame_Shift_Ins_p.R729fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.R631fs|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.R728fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	729					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATCTAAAGTGCGGGGGGACATC	0.51									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2185-2187)cacfs		signal transducer and activator of transcription 3 (acute-phase response factor)																																				SO:0001589	frameshift_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40468878_40468879insG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2186dupC	17.37:g.40468884_40468884dupG	ENSP00000264657:p.Arg729fs		Somatic				STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs	p.H729fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	23	2497_2498	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	729					A8K7B8|K7ENL3|O14916|Q9BW54	Frame_Shift_Ins	INS	ENST00000264657.5	37	c.2185_2186insC	CCDS32656.1																																																																																				0.510	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	813						8	813	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248730	44248731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:44248730_44248731insC	ENST00000262419.6	-	2	1249_1250	c.779_780insG	c.(778-780)ggtfs	p.G260fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.G260fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	260					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCAATTTGACACCCCCCAAGTT	0.47																																						ENST00000262419.6																			0											c.(778-780)ggtfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44248730_44248731insC	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.780dupG	17.37:g.44248736_44248736dupC	ENSP00000262419:p.Gly260fs		Somatic				KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000393476.3_5'UTR	p.G260fs	NM_001193466.1	NP_001180395.1	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			2	1249_1250	-			260					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	ENST00000262419.6	37	c.779_780insG	CCDS11503.1																																																																																				0.470	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		7	244						7	244	---	---	---	---
DLX4	1748	broad.mit.edu	37	17	48051124	48051125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:48051124_48051125insG	ENST00000240306.3	+	3	835_836	c.540_541insG	c.(541-543)gggfs	p.G181fs	DLX4_ENST00000411890.2_Frame_Shift_Ins_p.G109fs	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	181					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGCAGAATTCTGGGGGGCAGGA	0.55																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(538-543)tcggggfs		distal-less homeobox 4																																				SO:0001589	frameshift_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48051124_48051125insG		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.546dupG	17.37:g.48051130_48051130dupG	ENSP00000240306:p.Gly181fs		Somatic				DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs	p.SG180fs	NM_138281.2	NP_612138.1	WXS	Illumina GAIIx	Phase_I	Q92988	DLX4_HUMAN			3	835_836	+			180					D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Frame_Shift_Ins	INS	ENST00000240306.3	37	c.540_541insG	CCDS11555.1																																																																																				0.550	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			7	285						7	285	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|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_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	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	975						20	975	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247751	56247752	+	Frame_Shift_Ins	INS	-	-	A	rs569478574		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:56247751_56247752insA	ENST00000545221.1	+	1	735_736	c.735_736insA	c.(736-738)gtgfs	p.V246fs		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCCACATCATCGTGGTTTCCAT	0.53																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(733-738)attggtfs		olfactory receptor, family 4, subfamily D, member 2																																				SO:0001589	frameshift_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247751_56247752insA		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	Exception_encountered	17.37:g.56247751_56247752insA	ENSP00000441354:p.Val246fs		Somatic					p.G246fs	NM_001004707.3	NP_001004707.1	WXS	Illumina GAIIx	Phase_I	P58180	OR4D2_HUMAN			1	735_736	+			246					Q6IFN8|Q96R75	Frame_Shift_Ins	INS	ENST00000545221.1	37	c.735_736insA	CCDS32688.1																																																																																				0.530	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			23	577						23	577	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000581868.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gccfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435160_56435161insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1977dupG	17.37:g.56435167_56435167dupC	ENSP00000463069:p.Gly659fs		Somatic				RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs	p.A659fs			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			8	3931_3932	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1976_1977insG	CCDS11607.1																																																																																				0.599	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		9	206						9	206	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		10	602						10	602	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(262-264)gggfs	p.G88fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	88					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(259-264)ccggggfs		immature colon carcinoma transcript 1																																				SO:0001589	frameshift_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73015832_73015833insG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.267dupG	17.37:g.73015838_73015838dupG	ENSP00000301585:p.Gly88fs		Somatic					p.PG87fs	NM_001545.1	NP_001536.1	WXS	Illumina GAIIx	Phase_I	Q14197	ICT1_HUMAN			3	274_275	+	all_lung(278;0.226)		87					B2RAD1|Q53HM7|Q53Y11	Frame_Shift_Ins	INS	ENST00000301585.5	37	c.261_262insG	CCDS11711.1																																																																																				0.441	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		8	976						8	976	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75205481	75205482	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:75205481_75205482delCT	ENST00000413679.2	+	14	1837_1838	c.1534_1535delCT	c.(1534-1536)ctgfs	p.L512fs	SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	512					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAGAGGAGCTGGAGAACGAA	0.55																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1534-1536)gfs		SEC14-like 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205481_75205482delCT	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1534_1535delCT	17.37:g.75205481_75205482delCT	ENSP00000394716:p.Leu512fs		Somatic				SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs	p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	WXS	Illumina GAIIx	Phase_I	Q92503	S14L1_HUMAN			14	1837_1838	+			512					A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Del	DEL	ENST00000413679.2	37	c.1534_1535delCT	CCDS11752.1																																																																																				0.550	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		10	76						10	76	---	---	---	---
IMPA2	3613	broad.mit.edu	37	18	12030413	12030414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:12030413_12030414insA	ENST00000269159.3	+	8	1065_1066	c.823_824insA	c.(823-825)cagfs	p.Q275fs	IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.Q86fs|RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.Q86fs	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCTCATAGCTCAGGCCTTACAG	0.619																																						ENST00000269159.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12						c.(823-825)ggcfs		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)																																			SO:0001589	frameshift_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:12030413_12030414insA	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.824dupA	18.37:g.12030414_12030414dupA	ENSP00000269159:p.Gln275fs		Somatic				IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs	p.G275fs	NM_014214.2	NP_055029.1	WXS	Illumina GAIIx	Phase_I	O14732	IMPA2_HUMAN			8	1065_1066	+			275					B0YJ29|Q9UJT3	Frame_Shift_Ins	INS	ENST00000269159.3	37	c.823_824insA	CCDS11855.1																																																																																				0.619	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			9	278						9	278	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28992968	28992969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:28992968_28992969insC	ENST00000308128.4	+	16	2668_2669	c.2533_2534insC	c.(2533-2535)gagfs	p.E845fs	DSG4_ENST00000359747.4_Frame_Shift_Ins_p.E864fs|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	845					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTCTTGCTGAGATCTGCTTA	0.421																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2590-2592)gatfs		desmoglein 4																																				SO:0001589	frameshift_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992968_28992969insC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	Exception_encountered	18.37:g.28992968_28992969insC	ENSP00000311859:p.Glu845fs		Somatic				DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.D864fs	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2619_2620	+			845					A2RUI1|Q6Y9L9|Q8IXV4	Frame_Shift_Ins	INS	ENST00000308128.4	37	c.2590_2591insC	CCDS11897.1																																																																																				0.421	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		18	242						18	242	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaaagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.52											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1564-1569)ggaggafs		alpha-kinase 2																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246441_56246442insC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1566_1567insG	18.37:g.56246441_56246442insC	ENSP00000354991:p.Lys523fs		Somatic	OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.G523fs	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			4	1779_1780	-			523					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Ins	INS	ENST00000361673.3	37	c.1566_1567insG	CCDS11966.2																																																																																				0.520	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		15	419						15	419	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343478	72343479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:72343478_72343479insC	ENST00000299687.5	+	1	503_504	c.503_504insC	c.(502-507)ttccccfs	p.FP168fs	ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.FP168fs|ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.FP168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.FP168fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTCCTTTCCCCCCGAAAG	0.396																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(502-504)tccfs		zinc finger protein 407																																				SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343478_72343479insC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.509dupC	18.37:g.72343484_72343484dupC	ENSP00000299687:p.Phe168fs		Somatic				ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs	p.S168fs	NM_017757.2	NP_060227.2	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	503_504	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	168					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	c.503_504insC	CCDS45885.1																																																																																				0.396	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		8	380						8	380	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G	rs371534593|rs545216965		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)cccgggfs	p.G182fs	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(541-546)ccggctfs		leucine-rich alpha-2-glycoprotein 1																																				SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538452_4538453insG		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.544dupC	19.37:g.4538458_4538458dupG	ENSP00000302621:p.Gly182fs		Somatic				CTB-50L17.14_ENST00000586020.1_Intron	p.A182fs	NM_052972.2	NP_443204.1	WXS	Illumina GAIIx	Phase_I	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1003_1004	-		Hepatocellular(1079;0.137)	182					Q8N4F5|Q96QZ4	Frame_Shift_Ins	INS	ENST00000306390.6	37	c.543_544insC	CCDS12130.1																																																																																				0.619	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		9	259						9	259	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		12	319						12	319	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						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		21	510						21	510	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	340						12	340	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		8	277						8	277	---	---	---	---
CD97	976	broad.mit.edu	37	19	14516662	14516663	+	Frame_Shift_Ins	INS	-	-	ACAGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:14516662_14516663insACAGG	ENST00000242786.5	+	14	1812_1813	c.1732_1733insACAGG	c.(1732-1734)tcgfs	p.S578fs	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Frame_Shift_Ins_p.S485fs|CD97_ENST00000357355.3_Frame_Shift_Ins_p.S529fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	578					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCAGGGCTCGCGCACCACC	0.639																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1732-1734)gcgfs		CD97 molecule																																				SO:0001589	frameshift_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14516662_14516663insACAGG		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		Exception_encountered	19.37:g.14516662_14516663insACAGG	ENSP00000242786:p.Ser578fs		Somatic				CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs	p.A578fs	NM_078481.3	NP_510966.1	WXS	Illumina GAIIx	Phase_I	P48960	CD97_HUMAN			14	1812_1813	+			578					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Ins	INS	ENST00000242786.5	37	c.1732_1733insACAGG	CCDS32929.1																																																																																				0.639	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		20	162						20	162	---	---	---	---
OR7C1	26664	broad.mit.edu	37	19	14910413	14910414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:14910413_14910414insA	ENST00000248073.2	-	1	609_610	c.535_536insT	c.(535-537)tgtfs	p.C179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTGT	0.475																																						ENST00000248073.2																			1	Deletion - Frameshift(1)	p.C179fs*7(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(535-537)tgafs		olfactory receptor, family 7, subfamily C, member 1																																				SO:0001589	frameshift_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910413_14910414insA	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.536dupT	19.37:g.14910420_14910420dupA	ENSP00000248073:p.Cys179fs		Somatic				OR7A5_ENST00000601611.1_Intron	p.*179fs	NM_198944.1	NP_945182.1	WXS	Illumina GAIIx	Phase_I	O76099	OR7C1_HUMAN			1	609_610	-			179					Q15621|Q6IFP2|Q96R94	Frame_Shift_Ins	INS	ENST00000248073.2	37	c.535_536insT	CCDS12317.1																																																																																				0.475	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			7	489						7	489	---	---	---	---
HSH2D	84941	broad.mit.edu	37	19	16268114	16268115	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:16268114_16268115insC	ENST00000253680.6	+	8	1100_1101	c.569_570insC	c.(568-573)tgccccfs	p.CP190fs	HSH2D_ENST00000593154.2_Frame_Shift_Ins_p.CP190fs|HSH2D_ENST00000397372.4_Frame_Shift_Ins_p.CP101fs|HSH2D_ENST00000588246.1_Frame_Shift_Ins_p.CP190fs			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	190					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACTTCCTCCTGCCCCCCAAAAT	0.554																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(568-570)tccfs		hematopoietic SH2 domain containing																																				SO:0001589	frameshift_variant	84941					cytoplasm|nucleus		g.chr19:16268114_16268115insC	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.575dupC	19.37:g.16268120_16268120dupC	ENSP00000253680:p.Cys190fs		Somatic				HSH2D_ENST00000253680.6_Frame_Shift_Ins_p.S190fs|HSH2D_ENST00000397372.4_Frame_Shift_Ins_p.S101fs|HSH2D_ENST00000588246.1_Frame_Shift_Ins_p.S190fs	p.S190fs	NM_032855.2	NP_116244.1	WXS	Illumina GAIIx	Phase_I	Q96JZ2	HSH2D_HUMAN			8	1100_1101	+			190					B5ME72|Q6ZNG7	Frame_Shift_Ins	INS	ENST00000253680.6	37	c.569_570insC																																																																																					0.554	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		7	150						7	150	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs		Somatic				NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs	p.S458fs	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		8	491						8	491	---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)gccfs	p.A95fs	OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.A39fs|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.A95fs|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(283-285)cccfs		occludin/ELL domain containing 1																																				SO:0001589	frameshift_variant	79629							g.chr19:17337839_17337840insC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.289dupC	19.37:g.17337845_17337845dupC	ENSP00000215061:p.Ala95fs		Somatic				OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs	p.P95fs	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			3	327_328	+			95			Pro-rich.			Frame_Shift_Ins	INS	ENST00000215061.4	37	c.283_284insC	CCDS12351.1																																																																																				0.639	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		7	304						7	304	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		10	360						10	360	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		27	655						27	655	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200241	33200242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:33200241_33200242insA	ENST00000397061.3	+	2	865_866	c.865_866insA	c.(865-867)gaafs	p.E289fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	289						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGAAGGACTGGAAAGGTGGCTG	0.455																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(865-867)aagfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200241_33200242insA		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.868dupA	19.37:g.33200244_33200244dupA	ENSP00000380251:p.Glu289fs		Somatic					p.K289fs	NM_001105570.1	NP_001099040.1	WXS	Illumina GAIIx	Phase_I	A8MXV4	NUD19_HUMAN			2	865_866	+	Esophageal squamous(110;0.137)		289						Frame_Shift_Ins	INS	ENST00000397061.3	37	c.865_866insA	CCDS42543.1																																																																																				0.455	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		16	423						16	423	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G	rs551110568|rs559497541|rs375320861		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.PG181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)gggfs		family with sequence similarity 98, member C																																				SO:0001589	frameshift_variant	147965							g.chr19:38899415_38899416insG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.950dupG	19.37:g.38899422_38899422dupG	ENSP00000252530:p.Arg315fs		Somatic				FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs|FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs	p.G315fs	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	962_963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Ins	INS	ENST00000252530.5	37	c.943_944insG	CCDS42562.1																																																																																				0.564	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		10	192						10	192	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000430012.2_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		15	1016						15	1016	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	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_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	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	322						10	322	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		7	205						7	205	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																						ENST00000377214.4																			1	Deletion - Frameshift(1)	p.H295fs*12(1)	ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(892-894)tgcfs		TEA domain family member 2																																				SO:0001589	frameshift_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850472_49850473insG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs		Somatic				TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs	p.C298fs			WXS	Illumina GAIIx	Phase_I	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1254_1255	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	295			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	ENST00000311227.2	37	c.892_893insC	CCDS12761.1																																																																																				0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		67	765						67	765	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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	217						10	217	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000301399.5_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs		Somatic				ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	p.F459fs	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		8	1000						8	1000	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56552432	56552433	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:56552432_56552433insC	ENST00000390649.3	+	11	2931_2932	c.2931_2932insC	c.(2932-2934)cccfs	p.P978fs		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	978					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCATGAGGCTTCCCCACTGTAG	0.535																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2929-2934)ctcccafs		NLR family, pyrin domain containing 5																																				SO:0001589	frameshift_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552432_56552433insC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2935dupC	19.37:g.56552436_56552436dupC	ENSP00000375063:p.Pro978fs		Somatic					p.LP977fs	NM_153447.4	NP_703148.4	WXS	Illumina GAIIx	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2931_2932	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	977					A8MTY4|Q86W29	Frame_Shift_Ins	INS	ENST00000390649.3	37	c.2931_2932insC	CCDS12938.1																																																																																				0.535	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	2310						8	2310	---	---	---	---
ZNF419	79744	broad.mit.edu	37	19	58004916	58004917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:58004916_58004917delAT	ENST00000221735.7	+	5	1177_1178	c.991_992delAT	c.(991-993)atgfs	p.M331fs	ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs|ZNF419_ENST00000424930.2_Frame_Shift_Del_p.M332fs|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTCCAGCCTCATGAAACATCAG	0.401																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(994-996)gfs		zinc finger protein 419																																				SO:0001589	frameshift_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004916_58004917delAT	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.991_992delAT	19.37:g.58004916_58004917delAT	ENSP00000221735:p.Met331fs		Somatic				ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs|AC003005.4_ENST00000601674.1_Intron	p.M332fs	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	WXS	Illumina GAIIx	Phase_I	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1223_1224	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	331					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Frame_Shift_Del	DEL	ENST00000221735.7	37	c.994_995delAT	CCDS54326.1																																																																																				0.401	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		39	119						39	119	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR|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		8	269						8	269	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs		Somatic				NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs	p.G266fs	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		10	749						10	749	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						ENST00000360652.2																			0											c.(1267-1272)ggcctgfs		PC-esterase domain containing 1A																																				SO:0001589	frameshift_variant	64773							g.chr20:2816203_2816204insC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs		Somatic				PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	p.L424fs	NM_022760.3	NP_073597.2	WXS	Illumina GAIIx	Phase_I					8	1771_1772	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	ENST00000360652.2	37	c.1269_1270insG	CCDS13035.1																																																																																				0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		8	169						8	169	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Somatic				UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.GP572fs	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		7	161						7	161	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		9	233						9	233	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33447847	33447848	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:33447847_33447848insG	ENST00000336431.5	-	6	788		c.e6-2			NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7						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)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CATGGCAGCCTGGGGGGGCCGG	0.653																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.e6-2		gamma-glutamyltransferase 7																																				SO:0001630	splice_region_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447847_33447848insG	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.744-2->C	20.37:g.33447854_33447854dupG			Somatic						NM_178026.2	NP_821158.2	WXS	Illumina GAIIx	Phase_I	Q9UJ14	GGT7_HUMAN			6	788	-								Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Splice_Site	INS	ENST00000336431.5	37		CCDS13242.2																																																																																				0.653	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026	Intron	3	5						3	5	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		11	192						11	192	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37203484	37203485	+	Frame_Shift_Ins	INS	-	-	C	rs138886522	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:37203484_37203485insC	ENST00000262879.6	+	30	4643_4644	c.4359_4360insC	c.(4360-4362)cccfs	p.P1454fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P1451fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P1454fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P1233fs|RALGAPB_ENST00000490114.1_3'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1454					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCTACAGTCCCCCCCATGT	0.431																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(4357-4362)agccccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37203484_37203485insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4366dupC	20.37:g.37203491_37203491dupC	ENSP00000262879:p.Pro1454fs		Somatic				RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.SP1453fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.SP1450fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.SP1232fs|RALGAPB_ENST00000490114.1_3'UTR	p.SP1453fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			30	4643_4644	+			1453					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.4359_4360insC	CCDS13305.1																																																																																				0.431	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	233						9	233	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		13	306						13	306	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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			14	142						14	142	---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48472092	48472092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:48472092delC	ENST00000361573.2	+	8	729	c.687delC	c.(685-687)aacfs	p.N229fs	SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.N245fs|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	229					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTATTCTCAACGATGCAGTCT	0.448																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(733-735)aafs		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							121.0	104.0	110.0					20																	48472092		2203	4300	6503	SO:0001589	frameshift_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48472092delC	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.687delC	20.37:g.48472092delC	ENSP00000354966:p.Asn229fs		Somatic				SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs	p.N245fs	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		8	945	+			229					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL	ENST00000361573.2	37	c.735delC	CCDS13421.1																																																																																				0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		8	107						8	107	---	---	---	---
IFNAR1	3454	broad.mit.edu	37	21	34725169	34725170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:34725169_34725170insT	ENST00000270139.3	+	9	1401_1402	c.1249_1250insT	c.(1249-1251)aaafs	p.K417fs	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	417	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AAAGCTGAATAAAAGCAGTGTT	0.322																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1249-1251)aagfs		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)																																			SO:0001589	frameshift_variant	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34725169_34725170insT		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	Exception_encountered	21.37:g.34725169_34725170insT	ENSP00000270139:p.Lys417fs		Somatic				IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs	p.K417fs	NM_000629.2	NP_000620.2	WXS	Illumina GAIIx	Phase_I	P17181	INAR1_HUMAN			9	1401_1402	+			417			Fibronectin type-III 3.		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Frame_Shift_Ins	INS	ENST00000270139.3	37	c.1249_1250insT	CCDS13624.1																																																																																				0.322	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			17	70						17	70	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs		Somatic				IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	WXS	Illumina GAIIx	Phase_I	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			8	1175						8	1175	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	38997604	38997604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:38997604delC	ENST00000609713.1	-	4	1718	c.1129delG	c.(1129-1131)gcafs	p.A377fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	377					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGCAGCTCTGCCCTGCTGGCT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1129-1131)cafs		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						156.0	150.0	152.0					21																	38997604		1925	4150	6075	SO:0001589	frameshift_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997604delC	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1129delG	21.37:g.38997604delC	ENSP00000477437:p.Ala377fs		Somatic				KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	p.A377fs	NM_002240.3	NP_002231.1	WXS	Illumina GAIIx	Phase_I	P48051	IRK6_HUMAN			4	1718	-			377					Q3MJ74|Q53WW6	Frame_Shift_Del	DEL	ENST00000609713.1	37	c.1129delG	CCDS42927.1																																																																																				0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		15	156						15	156	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		14	597						14	597	---	---	---	---
NDUFV3	4731	broad.mit.edu	37	21	44323714	44323715	+	Intron	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:44323714_44323715insC	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Frame_Shift_Ins_p.A198fs|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TGAAAACAGAGCCCCCCGAGTT	0.52																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(592-594)cccfs		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)																																			SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323714_44323715insC		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5259->C	21.37:g.44323720_44323720dupC			Somatic				NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.P198fs	NM_021075.3	NP_066553.3	WXS	Illumina GAIIx	Phase_I	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	661_662	+			29					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Frame_Shift_Ins	INS	ENST00000340344.4	37	c.592_593insC	CCDS33573.1																																																																																				0.520	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			9	332						9	332	---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18609265	18609266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18609265_18609266insC	ENST00000330423.3	+	4	593_594	c.520_521insC	c.(520-522)gccfs	p.A174fs	TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.A108fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	174					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTACCCAGCCCCCCAGGTC	0.545																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(520-522)cccfs		tubulin, alpha 8																																				SO:0001589	frameshift_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609265_18609266insC	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.526dupC	22.37:g.18609271_18609271dupC	ENSP00000333326:p.Ala174fs		Somatic				TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs	p.P174fs	NM_018943.2	NP_061816.1	WXS	Illumina GAIIx	Phase_I	Q9NY65	TBA8_HUMAN			4	593_594	+			174					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Frame_Shift_Ins	INS	ENST00000330423.3	37	c.520_521insC	CCDS13751.1																																																																																				0.545	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		11	660						11	660	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)cccaagfs	p.K252fs	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(751-756)ccagtgfs		crystallin, beta B1																																				SO:0001589	frameshift_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995459_26995460insG		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.754dupC	22.37:g.26995465_26995465dupG	ENSP00000215939:p.Lys252fs		Somatic					p.V252fs	NM_001887.3	NP_001878.1	WXS	Illumina GAIIx	Phase_I	P53674	CRBB1_HUMAN			6	883_884	-			252			C-terminal arm.			Frame_Shift_Ins	INS	ENST00000215939.2	37	c.753_754insC	CCDS13840.1																																																																																				0.554	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		10	332						10	332	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:30415990_30415991insC	ENST00000401950.2	+	17	2684_2685	c.2342_2343insC	c.(2341-2346)gtccccfs	p.VP781fs	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.VP781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.VP645fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.VP781fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2341-2343)gccfs		myotubularin related protein 3																																				SO:0001589	frameshift_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415990_30415991insC	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2349dupC	22.37:g.30415997_30415997dupC	ENSP00000384651:p.Val781fs		Somatic				MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs	p.A781fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2670_2671	+			781					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Ins	INS	ENST00000401950.2	37	c.2342_2343insC	CCDS13870.1																																																																																				0.554	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		8	245						8	245	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs	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				7	692						7	692	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		20	497						20	497	---	---	---	---
PARVB	29780	broad.mit.edu	37	22	44547421	44547422	+	In_Frame_Ins	INS	-	-	TTG	rs528326067		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:44547421_44547422insTTG	ENST00000338758.7	+	10	896_897	c.833_834insTTG	c.(832-837)ctggag>ctTTGggag	p.278_279LE>LWE	PARVB_ENST00000404989.1_In_Frame_Ins_p.241_242LE>LWE|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_312LE>LWE	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	278	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACGGAACTGGAGACCCAGG	0.51																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(832-834)cga>cTTGga		parvin, beta																																				SO:0001652	inframe_insertion	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44547421_44547422insTTG	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	Exception_encountered	22.37:g.44547421_44547422insTTG	ENSP00000342492:p.Leu278_Glu279insTrp		Somatic				PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG	p.278_278R>LG	NM_013327.4	NP_037459.2	WXS	Illumina GAIIx	Phase_I	Q9HBI1	PARVB_HUMAN			10	896_897	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	278			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	In_Frame_Ins	INS	ENST00000338758.7	37	c.833_834insTTG	CCDS14056.1																																																																																				0.510	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		12	450						12	450	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46654994	46654994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:46654994delT	ENST00000253255.5	-	1	4225	c.4226delA	c.(4225-4227)aatfs	p.N1409fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1409					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTATTTAGATTAAAGAACAT	0.338																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4225-4227)atfs		polycystin (PKD) family receptor for egg jelly							54.0	54.0	54.0					22																	46654994		2203	4299	6502	SO:0001589	frameshift_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654994delT	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4226delA	22.37:g.46654994delT	ENSP00000253255:p.Asn1409fs		Somatic					p.N1409fs	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4225	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1409					B1AJY3|O95850	Frame_Shift_Del	DEL	ENST00000253255.5	37	c.4226delA	CCDS14073.1																																																																																				0.338	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		10	206						10	206	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	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		9	216						9	216	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		22	2220						22	2220	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		11	952						11	952	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)ccafs	p.P63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.51																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(187-189)caafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700524_133700525insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.189dupC	X.37:g.133700530_133700530dupG	ENSP00000352173:p.Pro63fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.Q63fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	473_474	-	Acute lymphoblastic leukemia(192;0.000127)		63						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.188_189insC	CCDS14642.1																																																																																				0.510	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		8	393						8	393	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821590	151821591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:151821590_151821591insC	ENST00000370306.2	+	9	1765_1766	c.1745_1746insC	c.(1744-1749)tgccccfs	p.CP582fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGATAGTTGCCCCCCAAGCC	0.52																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1744-1746)tccfs		gamma-aminobutyric acid (GABA) A receptor, theta																																				SO:0001589	frameshift_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821590_151821591insC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1751dupC	X.37:g.151821596_151821596dupC	ENSP00000359329:p.Cys582fs		Somatic					p.S582fs	NM_018558.2	NP_061028.2	WXS	Illumina GAIIx	Phase_I	Q9UN88	GBRT_HUMAN			9	1765_1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		582					A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Ins	INS	ENST00000370306.2	37	c.1745_1746insC	CCDS14707.1																																																																																				0.520	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		11	752						11	752	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	4						4	4	---	---	---	---
AKR7L	246181	broad.mit.edu	37	1	19594921	19594921	+	RNA	DEL	G	G	-	rs138196141		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:19594921delG	ENST00000429712.1	-	0	954				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						aaaaaaaaaaGACCAGTGGGA	0.413																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19594921delG			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19594921delG			Somatic				AKR7L_ENST00000429712.1_RNA				WXS	Illumina GAIIx	Phase_I					0	637	-								Q5U614	RNA	DEL	ENST00000429712.1	37																																																																																						0.413	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		9	64						9	64	---	---	---	---
ELOVL1	64834	broad.mit.edu	37	1	43830227	43830228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:43830227_43830228insC	ENST00000372458.3	-	6	583_584	c.466_467insG	c.(466-468)gtafs	p.V156fs	ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.V129fs|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	156					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAATCTTTACCCCCCACCAC	0.55																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(466-468)aaafs		ELOVL fatty acid elongase 1																																				SO:0001589	frameshift_variant	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830227_43830228insC	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.467dupG	1.37:g.43830233_43830233dupC	ENSP00000361536:p.Val156fs		Somatic				ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs	p.K156fs	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			6	583_584	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	156					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Frame_Shift_Ins	INS	ENST00000372458.3	37	c.466_467insG	CCDS485.1																																																																																				0.550	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		7	314						7	314	---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109325098	109325098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:109325098delC	ENST00000370008.3	+	10	914	c.864delC	c.(862-864)ctcfs	p.L288fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	288					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAGATGACCTCTGGGTTAGAA	0.343																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(862-864)ctfs		syntaxin binding protein 3							115.0	113.0	113.0					1																	109325098		2203	4300	6503	SO:0001589	frameshift_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109325098delC	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.864delC	1.37:g.109325098delC	ENSP00000359025:p.Leu288fs		Somatic					p.L288fs	NM_007269.2	NP_009200.2	WXS	Illumina GAIIx	Phase_I	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	10	914	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	288					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	ENST00000370008.3	37	c.864delC	CCDS790.1																																																																																				0.343	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		7	377						7	377	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151258868	151258869	+	Frame_Shift_Ins	INS	-	-	TGGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:151258868_151258869insTGGG	ENST00000368879.2	+	2	199_200	c.101_102insTGGG	c.(100-105)aatgagfs	p.E35fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			CCAGAAGAAAATGAGGGGCCTG	0.55																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(100-102)agafs		zinc finger protein 687																																				SO:0001589	frameshift_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151258868_151258869insTGGG		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	Exception_encountered	1.37:g.151258868_151258869insTGGG	ENSP00000357874:p.Glu35fs		Somatic					p.R34fs	NM_020832.1	NP_065883.1	WXS	Illumina GAIIx	Phase_I	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	199_200	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		34					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Ins	INS	ENST00000368879.2	37	c.101_102insTGGG																																																																																					0.550	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		26	371						26	371	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279150	152279151	+	Frame_Shift_Ins	INS	-	-	AGATCCTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152279150_152279151insAGATCCTG	ENST00000368799.1	-	3	8246_8247	c.8211_8212insCAGGATCT	c.(8209-8214)tctttcfs	p.F2738fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2738	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)			TGGTAGAGGAAAGATCCTGAAT	0.594									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.(8209-8214)tctcctfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279150_152279151insAGATCCTG	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.8204_8211dupCAGGATCT	1.37:g.152279151_152279158dupAGATCCTG	ENSP00000357789:p.Phe2738fs		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.P2738fs	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8246_8247	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2738			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.8211_8212insCAGGATCT	CCDS30860.1																																																																																				0.594	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	131						7	131	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283386	152283398	+	Frame_Shift_Del	DEL	AGCTGTCTGCAGA	AGCTGTCTGCAGA	-	rs528128566		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152283386_152283398delAGCTGTCTGCAGA	ENST00000368799.1	-	3	3999_4011	c.3964_3976delTCTGCAGACAGCT	c.(3964-3978)tctgcagacagctccfs	p.SADSS1322fs	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	1322	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1323E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGA	0.526									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.A1323E(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3964-3978)ccfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283386_152283398delAGCTGTCTGCAGA	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.3964_3976delTCTGCAGACAGCT	1.37:g.152283386_152283398delAGCTGTCTGCAGA	ENSP00000357789:p.Ser1322fs		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.SADSS1322fs	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3999_4011	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1322			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.3964_3976delTCTGCAGACAGCT	CCDS30860.1																																																																																				0.526	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	274						7	274	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324471	152324472	+	In_Frame_Ins	INS	-	-	AGTGGTATCTCT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152324471_152324472insAGTGGTATCTCT	ENST00000388718.5	-	3	5862_5863	c.5790_5791insAGAGATACCACT	c.(5788-5793)actgaa>actAGAGATACCACTgaa	p.1929_1930insTRDT	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1929					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)			TGGCCATGTTCAGTGGTATCTC	0.52																																						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.(5788-5793)acaaca>acAGAGATACCACTaaca		filaggrin family member 2																																				SO:0001652	inframe_insertion	388698						calcium ion binding|structural molecule activity	g.chr1:152324471_152324472insAGTGGTATCTCT	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.5790_5791insAGAGATACCACT	1.37:g.152324471_152324472insAGTGGTATCTCT	ENSP00000373370:p.Thr1929_Thr1930insThrArgAspThr		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.1930_1931TT>TEIPLT	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5862_5863	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1930					Q9H4U1	In_Frame_Ins	INS	ENST00000388718.5	37	c.5790_5791insAGAGATACCACT	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		22	653						22	653	---	---	---	---
S100A12	6283	broad.mit.edu	37	1	153346338	153346338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:153346338delG	ENST00000368737.3	-	3	361	c.244delC	c.(244-246)ctgfs	p.L82fs		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCAGCCTTCAGCGCAATGGCT	0.448																																						ENST00000368737.3																			0				endometrium(1)|kidney(1)|skin(2)	4						c.(244-246)tgfs		S100 calcium binding protein A12	Amlexanox(DB01025)						129.0	131.0	131.0					1																	153346338		2203	4300	6503	SO:0001589	frameshift_variant	6283				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153346338delG	BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10489	protein-coding gene	gene with protein product		603112	"""S100 calcium-binding protein A12 (calgranulin C)"", ""S100 calcium binding protein A12 (calgranulin C)"""			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.244delC	1.37:g.153346338delG	ENSP00000357726:p.Leu82fs		Somatic					p.L82fs	NM_005621.1	NP_005612.1	WXS	Illumina GAIIx	Phase_I	P80511	S10AC_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	361	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		82			EF-hand 2.		P83219|Q5SY66|Q7M4R1	Frame_Shift_Del	DEL	ENST00000368737.3	37	c.244delC	CCDS1037.1																																																																																				0.448	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036795.1	NM_005621		8	464						8	464	---	---	---	---
TPM3	7170	broad.mit.edu	37	1	154163682	154163682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154163682delC	ENST00000368530.2	-	2	415	c.223delG	c.(223-225)gcafs	p.A75fs	MIR190B_ENST00000401119.1_RNA|TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	75					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCTTCTCTGCCAGTTCCAGC	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368530.2				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(223-225)cafs		tropomyosin 3							144.0	149.0	148.0					1																	154163682		2177	4290	6467	SO:0001589	frameshift_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154163682delC	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.223delG	1.37:g.154163682delC	ENSP00000357516:p.Ala75fs		Somatic				TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	p.A75fs	NM_152263.2	NP_689476.2	WXS	Illumina GAIIx	Phase_I	P06753	TPM3_HUMAN			2	415	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		74					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Frame_Shift_Del	DEL	ENST00000368530.2	37	c.223delG	CCDS41403.1																																																																																				0.448	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		55	731						55	731	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177133693	177133694	+	In_Frame_Ins	INS	-	-	GTA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:177133693_177133694insGTA	ENST00000367654.3	-	1	330_331	c.119_120insTAC	c.(118-120)atc>atTACc	p.41_42insT	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_In_Frame_Ins_p.41_42insT|ASTN1_ENST00000424564.2_In_Frame_Ins_p.41_42insT|ASTN1_ENST00000367657.3_In_Frame_Ins_p.41_42insT	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	41					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGACACCGTGATGCTTTTGAG	0.678																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(118-120)aac>aTACac		astrotactin 1																																				SO:0001652	inframe_insertion	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133693_177133694insGTA	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.119_120insTAC	1.37:g.177133693_177133694insGTA	ENSP00000356626:p.Thr41_Thr41dup		Somatic				ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH	p.40_40N>IH			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			1	132_133	-			40					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	In_Frame_Ins	INS	ENST00000367654.3	37	c.119_120insTAC																																																																																					0.678	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	61						7	61	---	---	---	---
LAD1	3898	broad.mit.edu	37	1	201352461	201352464	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:201352461_201352464delTATC	ENST00000391967.2	-	6	1530_1533	c.1229_1232delGATA	c.(1228-1233)agatacfs	p.RY410fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	410						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCCGTGTGGTATCTCTCCAGCTT	0.608																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1228-1233)acfs		ladinin 1																																				SO:0001589	frameshift_variant	3898					basement membrane	structural molecule activity	g.chr1:201352461_201352464delTATC	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1229_1232delGATA	1.37:g.201352461_201352464delTATC	ENSP00000375829:p.Arg410fs		Somatic				LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	p.RY410fs	NM_005558.3	NP_005549.2	WXS	Illumina GAIIx	Phase_I	O00515	LAD1_HUMAN			6	1530_1533	-			410					O95614|Q96GD8	Frame_Shift_Del	DEL	ENST00000391967.2	37	c.1229_1232delGATA	CCDS1410.1																																																																																				0.608	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		10	405						10	405	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212988385	212988386	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:212988385_212988386insC	ENST00000366974.4	+	10	806_807	c.712_713insC	c.(712-714)tcafs	p.S238fs	TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	238					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CATTTCTATTTCAGCAGAATAT	0.431																																						ENST00000366974.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(712-714)agcfs		TatD DNase domain containing 3																																				SO:0001589	frameshift_variant	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212988385_212988386insC	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.713dupC	1.37:g.212988386_212988386dupC	ENSP00000355941:p.Ser238fs		Somatic				TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs	p.S238fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	WXS	Illumina GAIIx	Phase_I	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	10	806_807	+			238					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Frame_Shift_Ins	INS	ENST00000366974.4	37	c.712_713insC	CCDS31019.1																																																																																				0.431	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		24	213						24	213	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235969934	235969934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:235969934delG	ENST00000389794.3	-	6	2676	c.2502delC	c.(2500-2502)gccfs	p.A834fs	LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs|LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	834					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAACTGAGGCATCTTTCT	0.378																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2500-2502)gcfs		lysosomal trafficking regulator							220.0	211.0	214.0					1																	235969934		2203	4300	6503	SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969934delG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2502delC	1.37:g.235969934delG	ENSP00000374444:p.Ala834fs		Somatic				LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs|LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs	p.A834fs			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2676	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	834					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	c.2502delC	CCDS31062.1																																																																																				0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			22	447						22	447	---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46611714	46611714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:46611714delA	ENST00000263734.3	+	16	3038	c.2528delA	c.(2527-2529)gacfs	p.D843fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	843	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAGATATGACTGTGAGGTG	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2527-2529)gcfs		endothelial PAS domain protein 1							78.0	77.0	78.0					2																	46611714		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46611714delA	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2528delA	2.37:g.46611714delA	ENSP00000263734:p.Asp843fs		Somatic					p.D843fs	NM_001430.4	NP_001421.2	WXS	Illumina GAIIx	Phase_I	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		16	3038	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	843			CTAD.		Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.2528delA	CCDS1825.1																																																																																				0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		63	213						63	213	---	---	---	---
COMMD1	150684	broad.mit.edu	37	2	62373417	62373418	+	RNA	INS	-	-	A	rs76799739		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:62373417_62373418insA	ENST00000425966.2	-	0	251				AC018462.2_ENST00000421323.1_RNA																							ctctacttattaaaaaaaaAAA	0.347																																						ENST00000425966.2																			0																																																			150684							g.chr2:62373417_62373418insA																													2.37:g.62373428_62373428dupA			Somatic				AC018462.2_ENST00000421323.1_RNA				WXS	Illumina GAIIx	Phase_I					0	251	-									RNA	INS	ENST00000425966.2	37																																																																																						0.347	AC018462.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000326542.3			2	4						2	4	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100903470	100903472	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:100903470_100903472delTGT	ENST00000393437.3	-	11	2613_2615	c.1974_1976delACA	c.(1972-1977)caacag>cag	p.658_659QQ>Q	LONRF2_ENST00000409647.1_In_Frame_Del_p.415_416QQ>Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	658	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGAAACAGACTGTTGATGCACAG	0.488																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1972-1977)cag>ca		LON peptidase N-terminal domain and ring finger 2																																				SO:0001651	inframe_deletion	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903470_100903472delTGT	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1974_1976delACA	2.37:g.100903470_100903472delTGT	ENSP00000377086:p.Gln659del		Somatic				LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del	p.QQ658del	NM_198461.3	NP_940863.3	WXS	Illumina GAIIx	Phase_I	Q1L5Z9	LONF2_HUMAN			11	2613_2615	-			658			Lon.		B9A006|Q6ZSR4	In_Frame_Del	DEL	ENST00000393437.3	37	c.1974_1976delACA	CCDS2046.2																																																																																				0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		21	421						21	421	---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175333792	175333793	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:175333792_175333793delTT	ENST00000392552.2	-	5	1267_1268	c.1029_1030delAA	c.(1027-1032)ataaccfs	p.T344fs	GPR155_ENST00000295500.4_Frame_Shift_Del_p.T344fs|GPR155_ENST00000392551.2_Frame_Shift_Del_p.T344fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	344					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATCCCTGAGGTTATCTGCAAAA	0.376																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(1027-1032)atccfs		G protein-coupled receptor 155																																				SO:0001589	frameshift_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175333792_175333793delTT	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1029_1030delAA	2.37:g.175333792_175333793delTT	ENSP00000376335:p.Thr344fs		Somatic				GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs	p.IT343fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			5	1267_1268	-			343					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Frame_Shift_Del	DEL	ENST00000392552.2	37	c.1029_1030delAA	CCDS2259.1																																																																																				0.376	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		70	215						70	215	---	---	---	---
THAP4	51078	broad.mit.edu	37	2	242573106	242573106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:242573106delT	ENST00000407315.1	-	2	897	c.466delA	c.(466-468)aggfs	p.R156fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	156							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGGCCGCCCTGGGTGTGGCT	0.642																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(466-468)ggfs		THAP domain containing 4							27.0	31.0	30.0					2																	242573106		2203	4295	6498	SO:0001589	frameshift_variant	51078						DNA binding|metal ion binding	g.chr2:242573106delT	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.466delA	2.37:g.242573106delT	ENSP00000385006:p.Arg156fs		Somatic					p.R156fs	NM_015963.5	NP_057047.4	WXS	Illumina GAIIx	Phase_I	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	897	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	156					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Frame_Shift_Del	DEL	ENST00000407315.1	37	c.466delA	CCDS2551.1																																																																																				0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		12	47						12	47	---	---	---	---
TCAIM	285343	broad.mit.edu	37	3	44434435	44434436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:44434435_44434436insT	ENST00000342649.4	+	6	1088_1089	c.661_662insT	c.(661-663)gaafs	p.E221fs	TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.E221fs	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	221						mitochondrion (GO:0005739)											TTTAAAAGATGAACTGTCTCAT	0.327																																						ENST00000342649.4																			0											c.(661-663)actfs		T cell activation inhibitor, mitochondrial																																				SO:0001589	frameshift_variant	285343							g.chr3:44434435_44434436insT		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	Exception_encountered	3.37:g.44434435_44434436insT	ENSP00000341539:p.Glu221fs		Somatic				TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs	p.T221fs	NM_173826.3	NP_776187.2	WXS	Illumina GAIIx	Phase_I					6	1088_1089	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Frame_Shift_Ins	INS	ENST00000342649.4	37	c.661_662insT	CCDS2712.1																																																																																				0.327	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		31	202						31	202	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52696164	52696164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:52696164delG	ENST00000296302.7	-	4	514	c.513delC	c.(511-513)ggcfs	p.G171fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs			Q86U86	PB1_HUMAN	polybromo 1	171					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTCACTGTGCCCTGATTGT	0.488			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(511-513)ggfs		polybromo 1							373.0	335.0	348.0					3																	52696164		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52696164delG	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.513delC	3.37:g.52696164delG	ENSP00000296302:p.Gly171fs		Somatic				PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs	p.G171fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	515	-			171					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.513delC																																																																																					0.488	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		159	800						159	800	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125825989	125825992	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:125825989_125825992delAGCA	ENST00000393434.2	-	21	2794_2797	c.2445_2448delTGCT	c.(2443-2448)tttgctfs	p.FA815fs	ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	815	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTACCCATCAGCAAACCGAGAGA	0.534																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2443-2448)ttfs		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125825989_125825992delAGCA	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2445_2448delTGCT	3.37:g.125825989_125825992delAGCA	ENSP00000377083:p.Phe815fs		Somatic				ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs	p.FA815fs	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	21	2794_2797	-			815			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Del	DEL	ENST00000393434.2	37	c.2445_2448delTGCT	CCDS3034.1																																																																																				0.534	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		15	228						15	228	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121957791	121957792	+	Frame_Shift_Ins	INS	-	-	T	rs376739357		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:121957791_121957792insT	ENST00000379692.4	-	4	1860_1861	c.1334_1335insA	c.(1333-1335)cccfs	p.P445fs	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAGGAAGAGAGGGAAATGACTG	0.446																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1333-1335)ctcfs		neuron-derived neurotrophic factor																																				SO:0001589	frameshift_variant	79625							g.chr4:121957791_121957792insT	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1334_1335insA	4.37:g.121957791_121957792insT	ENSP00000369014:p.Pro445fs		Somatic					p.L445fs	NM_024574.3	NP_078850.3	WXS	Illumina GAIIx	Phase_I	Q8TB73	CD031_HUMAN			4	1860_1861	-			445			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Frame_Shift_Ins	INS	ENST00000379692.4	37	c.1334_1335insA	CCDS3717.2																																																																																				0.446	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		16	390						16	390	---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151177263	151177264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:151177263_151177264insA	ENST00000296550.7	+	16	2919_2920	c.2165_2166insA	c.(2164-2169)cctcccfs	p.P723fs	DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P722fs|DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P740fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	723	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTCCAGTTCCTCCCTCAGTGG	0.649																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(2164-2166)cccfs		doublecortin-like kinase 2																																				SO:0001589	frameshift_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151177263_151177264insA	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	Exception_encountered	4.37:g.151177263_151177264insA	ENSP00000296550:p.Pro723fs		Somatic				DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs|DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs	p.P722fs	NM_001040260.3	NP_001035350.2	WXS	Illumina GAIIx	Phase_I	Q8N568	DCLK2_HUMAN			16	2919_2920	+	all_hematologic(180;0.151)		722			Pro-rich.		C9J5Q9|Q59GC8|Q8N399	Frame_Shift_Ins	INS	ENST00000296550.7	37	c.2165_2166insA	CCDS34076.1																																																																																				0.649	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		11	70						11	70	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169201620	169201621	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:169201620_169201621insA	ENST00000393743.3	-	14	2134_2135	c.1843_1844insT	c.(1843-1845)aatfs	p.N615fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	615					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAGTGTAAATTTTCTTTCAAT	0.366																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1843-1845)tttfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60																																				SO:0001589	frameshift_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201620_169201621insA	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1843_1844insT	4.37:g.169201620_169201621insA	ENSP00000377344:p.Asn615fs		Somatic					p.F615fs	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2134_2135	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	615					Q6PK35|Q9NVE3	Frame_Shift_Ins	INS	ENST00000393743.3	37	c.1843_1844insT	CCDS34097.1																																																																																				0.366	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		8	198						8	198	---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96136598	96136598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:96136598delC	ENST00000443439.2	-	3	696	c.630delG	c.(628-630)gagfs	p.E210fs	ERAP1_ENST00000296754.3_Frame_Shift_Del_p.E210fs	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	210					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGTGCCTTGGCTCTCTTCTAA	0.438																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(628-630)gafs		endoplasmic reticulum aminopeptidase 1							121.0	119.0	120.0					5																	96136598		2203	4300	6503	SO:0001589	frameshift_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96136598delC	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.630delG	5.37:g.96136598delC	ENSP00000406304:p.Glu210fs		Somatic				ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs	p.E210fs	NM_016442.3	NP_057526.3	WXS	Illumina GAIIx	Phase_I	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	3	887	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	210					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	c.630delG	CCDS47250.1																																																																																				0.438	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		18	320						18	320	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30863250	30863251	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:30863250_30863251insC	ENST00000324771.8	+	14	2131_2132	c.1583_1584insC	c.(1582-1587)ggccccfs	p.GP528fs	DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.A232fs|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.GP528fs|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.GP528fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.GP528fs|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.GP528fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	528	Gly/Pro-rich.				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)	CGAGGCCCGGGCCCCCCCACAC	0.683																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1582-1584)gccfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001589	frameshift_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.chr6:30863250_30863251insC	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.1590dupC	6.37:g.30863257_30863257dupC	ENSP00000318217:p.Gly528fs		Somatic				DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.P232fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron	p.A528fs			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			14	2131_2132	+			528			Gly/Pro-rich.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1583_1584insC	CCDS34385.1																																																																																				0.683	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		12	77						12	77	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32029262	32029263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:32029262_32029263insC	ENST00000375244.3	-	21	7604_7605	c.7403_7404insG	c.(7402-7404)ggcfs	p.G2468fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.G2468fs			P22105	TENX_HUMAN	tenascin XB	2528	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTCCAGGCCCCCCACGGT	0.683																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7402-7404)gctfs		tenascin XB																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029262_32029263insC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7404dupG	6.37:g.32029268_32029268dupC	ENSP00000364393:p.Gly2468fs		Somatic				TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs	p.A2468fs			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			21	7604_7605	-			2528					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.7403_7404insG																																																																																					0.683	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	483						9	483	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33179568	33179568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:33179568delT	ENST00000374656.4	+	6	1116	c.908delT	c.(907-909)attfs	p.I303fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	303	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCCTGCGCATTGCCCTCGAG	0.642																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(907-909)atfs		ring finger protein 1							94.0	96.0	95.0					6																	33179568		2203	4300	6503	SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179568delT		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.908delT	6.37:g.33179568delT	ENSP00000363787:p.Ile303fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.I303fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			6	1116	+			303			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Del	DEL	ENST00000374656.4	37	c.908delT	CCDS34424.1																																																																																				0.642	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			49	290						49	290	---	---	---	---
FOXP4	116113	broad.mit.edu	37	6	41564917	41564921	+	Frame_Shift_Del	DEL	CCCCA	CCCCA	-	rs6911720		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:41564917_41564921delCCCCA	ENST00000307972.4	+	14	1674_1678	c.1662_1666delCCCCA	c.(1660-1668)agccccaccfs	p.PT555fs	FOXP4_ENST00000373060.1_Frame_Shift_Del_p.PT555fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.PT543fs|MIR4641_ENST00000578353.1_RNA|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.PT542fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.PT553fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	555					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCAGGAGCCCCACCCTGGTGAA	0.546																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1660-1668)agccfs		forkhead box P4																																				SO:0001589	frameshift_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41564917_41564921delCCCCA	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1662_1666delCCCCA	6.37:g.41564917_41564921delCCCCA	ENSP00000309823:p.Pro555fs		Somatic				FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs|FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs	p.SPT554fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	WXS	Illumina GAIIx	Phase_I	Q8IVH2	FOXP4_HUMAN			15	2120_2124	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		554					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Del	DEL	ENST00000307972.4	37	c.1662_1666delCCCCA	CCDS34447.1																																																																																				0.546	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		10	178						10	178	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143074371	143074371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:143074371delG	ENST00000367604.1	-	9	7853	c.7214delC	c.(7213-7215)gctfs	p.A2405fs	HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|HIVEP2_ENST00000367603.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2405					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(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGTGGAGTGAGCTAATGGAGT	0.468																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7213-7215)gtfs		human immunodeficiency virus type I enhancer binding protein 2							209.0	208.0	208.0					6																	143074371		2078	4224	6302	SO:0001589	frameshift_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074371delG	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7214delC	6.37:g.143074371delG	ENSP00000356576:p.Ala2405fs		Somatic				HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs|HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA	p.A2405fs	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7956	-			2405					Q02646|Q5THT5|Q9NS05	Frame_Shift_Del	DEL	ENST00000367604.1	37	c.7214delC	CCDS43510.1																																																																																				0.468	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			8	598						8	598	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412190	154412191	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:154412190_154412191insCT	ENST00000330432.7	+	3	984_985	c.747_748insCT	c.(748-750)attfs	p.I250fs	OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000414028.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.I343fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.I169fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.I150fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.I250fs|OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.I250fs	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	250					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAGTGCTCATCATTACCGTGTG	0.465																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(745-750)atttacfs		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)																																			SO:0001589	frameshift_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412190_154412191insCT	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	Exception_encountered	6.37:g.154412190_154412191insCT	ENSP00000328264:p.Ile250fs		Somatic				OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs	p.Y250fs	NM_001145284.2	NP_001138756.1	WXS	Illumina GAIIx	Phase_I	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	797_798	+		Ovarian(120;0.196)	250					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Frame_Shift_Ins	INS	ENST00000330432.7	37	c.747_748insCT	CCDS55070.1																																																																																				0.465	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		15	185						15	185	---	---	---	---
TCP1	6950	broad.mit.edu	37	6	160200765	160200766	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:160200765_160200766delTG	ENST00000321394.7	-	11	1627_1628	c.1347_1348delCA	c.(1345-1350)cccaatfs	p.N450fs	TCP1_ENST00000420894.2_Intron|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000392168.2_Frame_Shift_Del_p.N295fs|TCP1_ENST00000544255.1_Frame_Shift_Del_p.N226fs	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	450					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTAGTGTATTGGGAATAACAA	0.416																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(1345-1350)ccatfs		t-complex 1																																				SO:0001589	frameshift_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160200765_160200766delTG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1347_1348delCA	6.37:g.160200765_160200766delTG	ENSP00000317334:p.Asn450fs		Somatic				TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs	p.PN449fs	NM_030752.2	NP_110379.2	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	11	1627_1628	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	449					E1P5B2|Q15556|Q5TCM3	Frame_Shift_Del	DEL	ENST00000321394.7	37	c.1347_1348delCA	CCDS5269.1																																																																																				0.416	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		7	245						7	245	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8125865	8125866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:8125865_8125866insA	ENST00000223145.5	+	8	1898_1899	c.1341_1342insA	c.(1342-1344)aaafs	p.K448fs		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	448						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CATGTCCTGACAAAAACAAGGT	0.411																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1339-1344)gaaaaafs		glucocorticoid induced transcript 1																																				SO:0001589	frameshift_variant	113263							g.chr7:8125865_8125866insA	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1346dupA	7.37:g.8125870_8125870dupA	ENSP00000223145:p.Lys448fs		Somatic					p.EK447fs	NM_138426.3	NP_612435.1	WXS	Illumina GAIIx	Phase_I	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1898_1899	+		Ovarian(82;0.0608)	447					A4D103|Q96FD0	Frame_Shift_Ins	INS	ENST00000223145.5	37	c.1341_1342insA	CCDS34601.1																																																																																				0.411	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		9	1330						9	1330	---	---	---	---
TRGJP	6970	broad.mit.edu	37	7	38313226	38313227	+	RNA	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:38313226_38313227insT	ENST00000390338.2	-	0	21_22				TRGJP1_ENST00000390339.1_RNA					T cell receptor gamma joining P																		AAATACCTTGATTTTTTTGCCC	0.391																																						ENST00000390338.2																			0																																																			6970							g.chr7:38313226_38313227insT	M12950		7p14	2012-02-07			ENSG00000211691	ENSG00000211691		"""T cell receptors / TRG locus"""	12279	other	T cell receptor gene	"""T-cell receptor, gamma, joining segment JP"""			TCRGJP		2938743	Standard	NG_001336		Approved	JP			OTTHUMG00000155220		7.37:g.38313233_38313233dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	21_22	-									RNA	INS	ENST00000390338.2	37																																																																																						0.391	TRGJP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000338826.1	NG_001336		7	471						7	471	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121719765	121719766	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:121719765_121719766insG	ENST00000393376.1	-	20	2376_2377	c.2281_2282insC	c.(2281-2283)aaa>aCaa	p.K761fs	AASS_ENST00000473553.1_5'UTR|RNU7-154P_ENST00000516194.1_RNA|AASS_ENST00000417368.2_Splice_Site_p.K761fs			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	761	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GAGGAGTTGTTTCTGGTTAGAA	0.356																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.e20-1		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)																																			SO:0001630	splice_region_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121719765_121719766insG	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2281-1->C	7.37:g.121719765_121719766insG			Somatic				AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR	p.T761_splice			WXS	Illumina GAIIx	Phase_I	Q9UDR5	AASS_HUMAN			20	2376_2377	-			761			Saccharopine dehydrogenase.		O95462	Splice_Site	INS	ENST00000393376.1	37	c.2280_splice	CCDS5783.1																																																																																				0.356	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	Frame_Shift_Ins	10	52						10	52	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	11058233	11058234	+	Frame_Shift_Ins	INS	-	-	G	rs553473562		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:11058233_11058234insG	ENST00000416569.2	-	1	641_642	c.615_616insC	c.(613-618)cccatgfs	p.M206fs	AF131215.8_ENST00000602443.1_lincRNA|XKR6_ENST00000297303.4_Frame_Shift_Ins_p.M206fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	206						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCCCCCATCATGGGGGGGCCCC	0.762																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(613-618)cctgatfs		XK, Kell blood group complex subunit-related family, member 6																																				SO:0001589	frameshift_variant	286046					integral to membrane		g.chr8:11058233_11058234insG	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.616dupC	8.37:g.11058240_11058240dupG	ENSP00000416707:p.Met206fs		Somatic				XKR6_ENST00000297303.4_Frame_Shift_Ins_p.D206fs	p.D206fs	NM_173683.3	NP_775954.2	WXS	Illumina GAIIx	Phase_I	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	1	641_642	-			206					Q8TBA0	Frame_Shift_Ins	INS	ENST00000416569.2	37	c.615_616insC	CCDS5978.2																																																																																				0.762	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		2	4						2	4	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)caafs	p.Q23fs	CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.Q23fs|NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.Q23fs|CCNE2_ENST00000523476.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(67-69)agafs		cyclin E2																																				SO:0001589	frameshift_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95906294_95906295insG	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.68dupC	8.37:g.95906300_95906300dupG	ENSP00000429089:p.Gln23fs		Somatic				CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs	p.R23fs			WXS	Illumina GAIIx	Phase_I	O96020	CCNE2_HUMAN			3	319_320	-	Breast(36;8.75e-07)		23					O95439	Frame_Shift_Ins	INS	ENST00000520509.1	37	c.67_68insC	CCDS6264.1																																																																																				0.455	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		8	373						8	373	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	418149	418150	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:418149_418150insG	ENST00000453981.1	+	30	3894_3895	c.3782_3783insG	c.(3781-3786)ctggccfs	p.A1262fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.A1162fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.A729fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.A1194fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1262					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGTGGCTCTGGCCATAGCAG	0.441																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3577-3579)cgcfs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:418149_418150insG	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3784dupG	9.37:g.418151_418151dupG	ENSP00000408464:p.Ala1262fs		Somatic				DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs	p.R1193fs	NM_203447.3	NP_982272.2	WXS	Illumina GAIIx	Phase_I	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	30	3894_3895	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1261					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	c.3578_3579insG	CCDS6440.2																																																																																				0.441	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		62	234						62	234	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14307384	14307385	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:14307384_14307385delCT	ENST00000380959.3	-	2	638_639	c.165_166delAG	c.(163-168)agagcafs	p.RA55fs	NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	55					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCTTTGACTGCTCTTTCTTCAT	0.455			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(163-168)agcafs		nuclear factor I/B																																				SO:0001589	frameshift_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307384_14307385delCT	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.165_166delAG	9.37:g.14307386_14307387delCT	ENSP00000370346:p.Arg55fs		Somatic				NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs	p.RA55fs	NM_005596.3	NP_005587.2	WXS	Illumina GAIIx	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	638_639	-			55					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Frame_Shift_Del	DEL	ENST00000380959.3	37	c.165_166delAG	CCDS6474.1																																																																																				0.455	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		12	119						12	119	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35750946	35750947	+	5'Flank	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:35750946_35750947insA	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Frame_Shift_Ins_p.T150fs|GBA2_ENST00000378094.4_5'Flank|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Frame_Shift_Ins_p.T190fs	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCCTATCACTTTACTCAG	0.55																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(445-450)atctttfs		RGP1 retrograde golgi transport homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	9827							g.chr9:35750946_35750947insA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750947_35750947dupA	Exception_encountered		Somatic				RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs	p.F150fs	NM_001080496.2	NP_001073965.2	WXS	Illumina GAIIx	Phase_I	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	588_589	+	all_epithelial(49;0.167)		150					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Ins	INS	ENST00000378103.3	37	c.447_448insA	CCDS6589.1																																																																																				0.550	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	106						19	106	---	---	---	---
GNE	10020	broad.mit.edu	37	9	36219966	36219970	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:36219966_36219970delAAGGA	ENST00000539815.1	-	9	1721_1725	c.1681_1685delTCCTT	c.(1681-1686)tccttcfs	p.SF561fs	GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000396594.3_Frame_Shift_Del_p.SF592fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	561	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGCAGCACAGAAGGAGCTTCCGTGG	0.502																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1774-1779)cfs		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase																																				SO:0001589	frameshift_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36219966_36219970delAAGGA	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1681_1685delTCCTT	9.37:g.36219966_36219970delAAGGA	ENSP00000439155:p.Ser561fs		Somatic				GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs	p.SF592fs	NM_001128227.2	NP_001121699.1	WXS	Illumina GAIIx	Phase_I	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		10	1885_1889	-			561			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Frame_Shift_Del	DEL	ENST00000539815.1	37	c.1774_1778delTCCTT	CCDS6602.1																																																																																				0.502	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		14	109						14	109	---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87339241	87339241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:87339241delG	ENST00000323115.4	+	7	1176	c.823delG	c.(823-825)gatfs	p.D275fs	NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	275	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGTAGGAGAAGATCAAGATTC	0.438										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(823-825)atfs		neurotrophic tyrosine kinase, receptor, type 2							230.0	218.0	222.0					9																	87339241		2203	4300	6503	SO:0001589	frameshift_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339241delG	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.823delG	9.37:g.87339241delG	ENSP00000314586:p.Asp275fs	TSP Lung(25;0.17)	Somatic				NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs	p.D275fs	NM_001018065.2	NP_001018075.1	WXS	Illumina GAIIx	Phase_I	Q16620	NTRK2_HUMAN			8	1306	+			275			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	37	c.823delG	CCDS35050.1																																																																																				0.438	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			26	972						26	972	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88938010	88938010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:88938010delC	ENST00000375963.3	-	13	2827	c.2655delG	c.(2653-2655)gggfs	p.G885fs	ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.G174fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	885	Glu-rich.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATCCCCTGACCCAGTGTAGG	0.458																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(520-522)ggfs		zinc finger, CCHC domain containing 6							212.0	174.0	187.0					9																	88938010		2203	4300	6503	SO:0001589	frameshift_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938010delC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2655delG	9.37:g.88938010delC	ENSP00000365130:p.Gly885fs		Somatic				ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs	p.G174fs			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			14	2946	-			885					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	ENST00000375963.3	37	c.522delG	CCDS35057.1																																																																																				0.458	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		9	948						9	948	---	---	---	---
ZNF189	7743	broad.mit.edu	37	9	104170501	104170502	+	In_Frame_Ins	INS	-	-	GGA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:104170501_104170502insGGA	ENST00000339664.2	+	3	580_581	c.451_452insGGA	c.(451-453)gaa>gGGAaa	p.151_151E>GK	ZNF189_ENST00000374861.3_In_Frame_Ins_p.137_137E>GK|ZNF189_ENST00000259395.4_In_Frame_Ins_p.109_109E>GK	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	151					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCATAAATGTGAAGAATGTGGA	0.401																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(409-411)aga>GGAaga		zinc finger protein 189																																				SO:0001652	inframe_insertion	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170501_104170502insGGA	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	Exception_encountered	9.37:g.104170501_104170502insGGA	ENSP00000342019:p.Glu151delinsGlyLys		Somatic				ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG|ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG	p.136_137insG	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	WXS	Illumina GAIIx	Phase_I	O75820	ZN189_HUMAN			3	693_694	+		Acute lymphoblastic leukemia(62;0.0559)	150					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	In_Frame_Ins	INS	ENST00000339664.2	37	c.409_410insGGA	CCDS6754.1																																																																																				0.401	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		32	218						32	218	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117186710	117186711	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:117186710_117186711insGT	ENST00000362057.3	-	6	1487_1488	c.1319_1320insAC	c.(1318-1320)gccfs	p.A440fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.A57fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.A89fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	440			A -> T (in dbSNP:rs4978584).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCCATGGTGGCGTGTTCCTG	0.644																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1318-1320)gacfs		deafness, autosomal recessive 31																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117186710_117186711insGT	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1319_1320insAC	9.37:g.117186710_117186711insGT	ENSP00000354623:p.Ala440fs		Somatic				DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs	p.D440fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	WXS	Illumina GAIIx	Phase_I	Q9P202	WHRN_HUMAN			6	1487_1488	-			440		A -> T (in dbSNP:rs4978584).			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1319_1320insAC	CCDS6806.1																																																																																				0.644	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		8	116						8	116	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100451	8100452	+	Frame_Shift_Ins	INS	-	-	G	rs200317918	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:8100451_8100452insG	ENST00000346208.3	+	3	880_881	c.425_426insG	c.(424-429)tcggggfs	p.SG142fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.SG142fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.G144fs*51(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCACG	0.728			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		1	Deletion - Frameshift(1)	p.G144fs*51(1)	large_intestine(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(424-426)tggfs		GATA binding protein 3																																				SO:0001589	frameshift_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100451_8100452insG	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.431dupG	10.37:g.8100457_8100457dupG	ENSP00000341619:p.Ser142fs		Somatic				GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs	p.W142fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina GAIIx	Phase_I	P23771	GATA3_HUMAN			3	993_994	+			142			Poly-Ser.		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	ENST00000346208.3	37	c.425_426insG	CCDS7083.1																																																																																				0.728	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		7	123						7	123	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30653898	30653902	+	Frame_Shift_Del	DEL	TCTCC	TCTCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:30653898_30653902delTCTCC	ENST00000358107.4	-	2	279_283	c.280_284delGGAGA	c.(280-285)ggagatfs	p.GD94fs	RN7SL241P_ENST00000482973.2_RNA|AL161651.1_ENST00000408070.1_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCATCTTCATCTCCTCTTTGTCCT	0.639																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(280-285)tfs		mitochondrial poly(A) polymerase																																				SO:0001589	frameshift_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653898_30653902delTCTCC	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.280_284delGGAGA	10.37:g.30653898_30653902delTCTCC	ENSP00000350820:p.Gly94fs		Somatic				MTPAP_ENST00000488290.1_5'UTR	p.GD94fs			WXS	Illumina GAIIx	Phase_I	Q9NVV4	PAPD1_HUMAN			2	279_283	-			0					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Frame_Shift_Del	DEL	ENST00000358107.4	37	c.280_284delGGAGA																																																																																					0.639	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		8	17						8	17	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33502391	33502391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:33502391delT	ENST00000265371.4	-	10	2062	c.1537delA	c.(1537-1539)aggfs	p.R513fs	NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000432372.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374875.1_Frame_Shift_Del_p.R332fs|NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs			O14786	NRP1_HUMAN	neuropilin 1	513	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAACTTCCTCATGAACACC	0.537																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1537-1539)ggfs		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						247.0	212.0	224.0					10																	33502391		2203	4300	6503	SO:0001589	frameshift_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502391delT	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1537delA	10.37:g.33502391delT	ENSP00000265371:p.Arg513fs		Somatic				NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs	p.R513fs			WXS	Illumina GAIIx	Phase_I	O14786	NRP1_HUMAN			10	2062	-			513			F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Frame_Shift_Del	DEL	ENST00000265371.4	37	c.1537delA	CCDS7177.1																																																																																				0.537	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			12	1019						12	1019	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:19955425_19955426insG	ENST00000396087.3	+	8	1803_1804	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	NAV2_ENST00000396085.1_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.G498fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.G482fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.G500fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	569					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1633-1638)aaggggfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955425_19955426insG	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1710dupG	11.37:g.19955431_19955431dupG	ENSP00000379396:p.Gly569fs		Somatic				NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs	p.KG545fs	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			7	1996_1997	+			568					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.1635_1636insG	CCDS58126.1																																																																																				0.554	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	748						9	748	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93839155	93839158	+	Splice_Site	DEL	AGCC	AGCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:93839155_93839158delAGCC	ENST00000315765.9	+	17	2913_2915	c.2905_2907delAGCC	c.(2905-2907)agcdel	p.S969fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACCTTTTAAAGCCATTAATGGAA	0.333																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.e17-1		hephaestin-like 1																																				SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93839155_93839158delAGCC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2906-1AGCC>-	11.37:g.93839155_93839158delAGCC			Somatic					p.969_splice	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			17	2913_2915	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	969			Plastocyanin-like 6.		Q3C1W7	Splice_Site	DEL	ENST00000315765.9	37	c.2905_splice	CCDS44710.1																																																																																				0.333	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Frame_Shift_Del	20	81						20	81	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del		Somatic					p.YGSGGSSY552del	NM_006121.3	NP_006112.3	WXS	Illumina GAIIx	Phase_I	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		4	6						4	6	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53233701	53233702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:53233701_53233702insC	ENST00000304620.4	-	7	1177_1178	c.1114_1115insG	c.(1114-1116)cagfs	p.Q372fs	KRT78_ENST00000359499.4_Frame_Shift_Ins_p.Q262fs	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	372	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCTTGGCCTGAGCGTCCTTG	0.634																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(784-786)ggcfs		keratin 78																																				SO:0001589	frameshift_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233701_53233702insC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1114_1115insG	12.37:g.53233701_53233702insC	ENSP00000306261:p.Gln372fs		Somatic				KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs	p.G262fs			WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			7	795_796	-			372			Linker 12.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	ENST00000304620.4	37	c.784_785insG	CCDS8840.1																																																																																				0.634	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		20	189						20	189	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99640442	99640444	+	In_Frame_Del	DEL	TTG	TTG	-	rs550627459		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:99640442_99640444delTTG	ENST00000547776.2	-	13	1954_1956	c.1955_1957delCAA	c.(1954-1959)ccaata>cta	p.652_653PI>L	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_In_Frame_Del_p.232_233PI>L|ANKS1B_ENST00000329257.7_In_Frame_Del_p.652_653PI>L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	652						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTATTTTCTATTGGAGACTGCTT	0.36																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1954-1959)cta>c		ankyrin repeat and sterile alpha motif domain containing 1B																																				SO:0001651	inframe_deletion	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640442_99640444delTTG	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1955_1957delCAA	12.37:g.99640442_99640444delTTG	ENSP00000449629:p.Pro652_Ile653delinsLeu		Somatic				ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del	p.PI652del	NM_152788.4	NP_690001.3	WXS	Illumina GAIIx	Phase_I	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1954_1956	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	652					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	In_Frame_Del	DEL	ENST00000547776.2	37	c.1955_1957delCAA	CCDS55872.1																																																																																				0.360	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		54	128						54	128	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104049316	104049317	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:104049316_104049317insAG	ENST00000388887.2	+	15	1895_1896	c.1691_1692insAG	c.(1690-1695)aataacfs	p.NN564fs	RP11-341G23.2_ENST00000551905.1_RNA	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						GAAGCATTGAATAACATGAAGG	0.455																																						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.(1690-1692)aaafs		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.chr12:104049316_104049317insAG	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	Exception_encountered	12.37:g.104049316_104049317insAG	ENSP00000373539:p.Asn564fs		Somatic				RP11-341G23.2_ENST00000551905.1_RNA	p.K564fs	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			15	1895_1896	+			564			FAS1 2.			Frame_Shift_Ins	INS	ENST00000388887.2	37	c.1691_1692insAG	CCDS31888.1																																																																																				0.455	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	329						7	329	---	---	---	---
MVK	4598	broad.mit.edu	37	12	110029061	110029062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:110029061_110029062insC	ENST00000228510.3	+	9	860_861	c.784_785insC	c.(784-786)gccfs	p.A262fs	MVK_ENST00000539575.1_Frame_Shift_Ins_p.A210fs|MVK_ENST00000541384.1_Frame_Shift_Ins_p.A68fs|MVK_ENST00000539696.1_5'UTR|MVK_ENST00000392727.3_Frame_Shift_Ins_p.A210fs	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	262					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AGAGATCGTGGCCCCCCTCCTG	0.634																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(784-786)cccfs		mevalonate kinase																																				SO:0001589	frameshift_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110029061_110029062insC	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.790dupC	12.37:g.110029067_110029067dupC	ENSP00000228510:p.Ala262fs		Somatic				MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs|MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539696.1_5'UTR	p.P262fs	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	WXS	Illumina GAIIx	Phase_I	Q03426	KIME_HUMAN			9	860_861	+			262						Frame_Shift_Ins	INS	ENST00000228510.3	37	c.784_785insC	CCDS9132.1																																																																																				0.634	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		8	423						8	423	---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113405382	113405383	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:113405382_113405383delAG	ENST00000228928.7	+	13	3028_3029	c.2849_2850delAG	c.(2848-2850)aagfs	p.K950fs	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	950	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGCTGGTGAAGCACTGGTACC	0.584																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2848-2850)afs		2'-5'-oligoadenylate synthetase 3, 100kDa																																				SO:0001589	frameshift_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405382_113405383delAG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2849_2850delAG	12.37:g.113405382_113405383delAG	ENSP00000228928:p.Lys950fs		Somatic				RP1-71H24.1_ENST00000552784.1_RNA	p.K950fs	NM_006187.2	NP_006178.2	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			13	3028_3029	+			950			OAS domain 3.		Q2HJ14|Q9H3P5	Frame_Shift_Del	DEL	ENST00000228928.7	37	c.2849_2850delAG	CCDS44981.1																																																																																				0.584	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	61						23	61	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45149854	45149855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:45149854_45149855insG	ENST00000458659.2	-	1	846_847	c.356_357insC	c.(355-357)gctfs	p.A119fs	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	119					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGAGATCTGAGCAGGAGTAAC	0.49																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(355-357)gcafs		TSC22 domain family, member 1																																				SO:0001589	frameshift_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149854_45149855insG	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.357dupC	13.37:g.45149855_45149855dupG	ENSP00000397435:p.Ala119fs		Somatic				TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	p.A119fs	NM_183422.3	NP_904358.2	WXS	Illumina GAIIx	Phase_I	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	846_847	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	119					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Ins	INS	ENST00000458659.2	37	c.356_357insC	CCDS31966.1																																																																																				0.490	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	104						7	104	---	---	---	---
ITM2B	9445	broad.mit.edu	37	13	48835348	48835348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:48835348delA	ENST00000378565.5	+	6	992	c.789delA	c.(787-789)ttafs	p.L263fs	ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	263					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TGGAAACTTTAATTTGTTCTT	0.333																																						ENST00000378565.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(787-789)ttfs		integral membrane protein 2B							49.0	53.0	52.0					13																	48835348		2203	4299	6502	SO:0001589	frameshift_variant	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48835348delA	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.789delA	13.37:g.48835348delA	ENSP00000367828:p.Leu263fs		Somatic				ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	p.L263fs	NM_021999.4	NP_068839.1	WXS	Illumina GAIIx	Phase_I	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	6	992	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	263					Q5W0A3|Q96B24|Q9NYH1	Frame_Shift_Del	DEL	ENST00000378565.5	37	c.789delA	CCDS9409.1																																																																																				0.333	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		11	94						11	94	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77672710	77672711	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:77672710_77672711insCAAT	ENST00000544440.2	-	56	8481_8482	c.8464_8465insATTG	c.(8464-8466)acafs	p.T2822fs	MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.T2860fs|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.T345fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.T2822fs|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAGCTTTGTCTTAACAGGA	0.47																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8578-8580)aaafs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672710_77672711insCAAT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8464_8465insATTG	13.37:g.77672710_77672711insCAAT	ENSP00000444596:p.Thr2822fs		Somatic				MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs	p.K2860fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8844_8845	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2822						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.8578_8579insATTG																																																																																					0.470	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		126	409						126	409	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(607-609)cggfs		family with sequence similarity 155, member A																																				SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518337_108518338insC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.608dupG	13.37:g.108518344_108518344dupC	ENSP00000365080:p.Asp203fs		Somatic					p.R203fs	NM_001080396.2	NP_001073865.1	WXS	Illumina GAIIx	Phase_I	B1AL88	F155A_HUMAN			1	745_746	-			203					B2RUV1|B7Z334	Frame_Shift_Ins	INS	ENST00000375915.2	37	c.607_608insG	CCDS32006.1																																																																																				0.609	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	92						7	92	---	---	---	---
TPPP2	122664	broad.mit.edu	37	14	21499213	21499214	+	In_Frame_Ins	INS	-	-	AAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:21499213_21499214insAAT	ENST00000321760.6	+	3	364_365	c.216_217insAAT	c.(217-219)gca>AATgca	p.72_73insN	RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_73insN|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_73insN	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	72						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGTTCAAAGAGGCAGTGAAGGA	0.5																																						ENST00000321760.6																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(214-219)gacagt>gaAATcagt		tubulin polymerization-promoting protein family member 2																																				SO:0001652	inframe_insertion	122664					cytoplasm		g.chr14:21499213_21499214insAAT	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	Exception_encountered	14.37:g.21499213_21499214insAAT	ENSP00000317595:p.Glu72_Ala73insAsn		Somatic				NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI	p.72_72D>EI	NM_173846.4	NP_776245.2	WXS	Illumina GAIIx	Phase_I	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	364_365	+	all_cancers(95;0.000759)		72					Q2VYF3	In_Frame_Ins	INS	ENST00000321760.6	37	c.216_217insAAT	CCDS9566.1																																																																																				0.500	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		10	471						10	471	---	---	---	---
TMX1	81542	broad.mit.edu	37	14	51716243	51716244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:51716243_51716244insT	ENST00000457354.2	+	6	672_673	c.547_548insT	c.(547-549)gttfs	p.V183fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	183					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						ATCATATACTGTTTTTGCTTTA	0.307																																						ENST00000457354.2																			0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(547-549)tttfs		thioredoxin-related transmembrane protein 1																																				SO:0001589	frameshift_variant	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51716243_51716244insT	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.552dupT	14.37:g.51716248_51716248dupT	ENSP00000393316:p.Val183fs		Somatic					p.F183fs	NM_030755.4	NP_110382.3	WXS	Illumina GAIIx	Phase_I	Q9H3N1	TMX1_HUMAN			6	672_673	+			183					B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Frame_Shift_Ins	INS	ENST00000457354.2	37	c.547_548insT	CCDS41953.1																																																																																				0.307	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		7	790						7	790	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92563097	92563098	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:92563097_92563098delGC	ENST00000532032.1	-	2	118_119	c.109_110delGC	c.(109-111)gcafs	p.A37fs	ATXN3_ENST00000545170.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs			P54252	ATX3_HUMAN	ataxin 3	37	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CAGCTGATGTGCAATTGAGGAT	0.396																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(109-111)afs		ataxin 3																																				SO:0001589	frameshift_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92563097_92563098delGC	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.109_110delGC	14.37:g.92563097_92563098delGC	ENSP00000437157:p.Ala37fs		Somatic				ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000554491.1_5'UTR	p.A37fs	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	WXS	Illumina GAIIx	Phase_I	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	2	177_178	-		all_cancers(154;0.0768)	37			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Frame_Shift_Del	DEL	ENST00000532032.1	37	c.109_110delGC																																																																																					0.396	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		29	243						29	243	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889765	23889766	+	Frame_Shift_Ins	INS	-	-	CTCA	rs398122418		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:23889765_23889766insCTCA	ENST00000532292.1	-	1	1409_1410	c.1315_1316insTGAG	c.(1315-1317)cagfs	p.Q439fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	322	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCGAGCGCTGGACAGGCACC	0.5																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1315-1317)gcgfs		MAGE-like 2																																				SO:0001589	frameshift_variant	54551							g.chr15:23889765_23889766insCTCA	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1315_1316insTGAG	15.37:g.23889765_23889766insCTCA	ENSP00000433433:p.Gln439fs		Somatic					p.A439fs	NM_019066.4	NP_061939.3	WXS	Illumina GAIIx	Phase_I				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1409_1410	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Frame_Shift_Ins	INS	ENST00000532292.1	37	c.1315_1316insTGAG																																																																																					0.500	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	34						19	34	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			9	34						9	34	---	---	---	---
HP	3240	broad.mit.edu	37	16	72093094	72093095	+	Intron	INS	-	-	CTGAGCA	rs573073579	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:72093094_72093095insCTGAGCA	ENST00000355906.5	+	6	500				HPR_ENST00000356967.5_Intron|HP_ENST00000569639.1_Frame_Shift_Ins_p.-92fs|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Intron|HP_ENST00000357763.4_Intron|HP_ENST00000570083.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin						acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCAGGTGGGTGCTGAGCACTTA	0.52														169	0.033746	0.0908	0.0159	5008	,	,		18348	0.003		0.0338	False		,,,				2504	0.001					ENST00000569639.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(271-273)ttgfs		haptoglobin			,	115,3291		54,7,1642					,	1.1	0.0		dbSNP_130	111	55,7727		21,13,3857	no	intron,intron	HP	NM_005143.3,NM_001126102.1	,	75,20,5499	A1A1,A1R,RR		0.7068,3.3764,1.5195	,	,		170,11018				SO:0001627	intron_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72093094_72093095insCTGAGCA		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.442+7->CTGAGCA	16.37:g.72093095_72093101dupCTGAGCA			Somatic				HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000565574.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Intron	p.L91fs			WXS	Illumina GAIIx	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	4	302_303	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	92			Sushi 2.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Frame_Shift_Ins	INS	ENST00000355906.5	37	c.272_273insCTGAGCA	CCDS45524.1																																																																																				0.520	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		9	246						9	246	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74660329	74660329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:74660329delA	ENST00000361070.4	-	12	2190	c.2093delT	c.(2092-2094)ctafs	p.L699fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	699					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTTGGTCAATAGTTTGCAAGT	0.468																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(2092-2094)cafs		ring finger and WD repeat domain 3							206.0	186.0	192.0					16																	74660329		2198	4300	6498	SO:0001589	frameshift_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74660329delA	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2093delT	16.37:g.74660329delA	ENSP00000354361:p.Leu699fs		Somatic				RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	p.L699fs	NM_018124.3	NP_060594.3	WXS	Illumina GAIIx	Phase_I	Q6PCD5	RFWD3_HUMAN			12	2190	-			699					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Del	DEL	ENST00000361070.4	37	c.2093delT	CCDS32486.1																																																																																				0.468	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		30	677						30	677	---	---	---	---
CHMP1A	5119	broad.mit.edu	37	16	89712364	89712365	+	3'UTR	INS	-	-	G	rs375366854	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:89712364_89712365insG	ENST00000397901.3	-	0	956_957				CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000253475.5_Frame_Shift_Ins_p.A227fs|CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGAGTGGCTGCCGGCCGCAG	0.649																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(679-681)ggcfs		charged multivesicular body protein 1A																																				SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712364_89712365insG	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*110->C	16.37:g.89712365_89712365dupG			Somatic				CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR	p.G227fs	NM_001083314.2	NP_001076783.1	WXS	Illumina GAIIx	Phase_I	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	812_813	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Frame_Shift_Ins	INS	ENST00000397901.3	37	c.680_681insC	CCDS45552.1																																																																																				0.649	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		3	6						3	6	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40468878	40468879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:40468878_40468879insG	ENST00000264657.5	-	23	2497_2498	c.2185_2186insC	c.(2185-2187)cgcfs	p.R729fs	STAT3_ENST00000588969.1_Frame_Shift_Ins_p.R729fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.R631fs|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.R728fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	729					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATCTAAAGTGCGGGGGGACATC	0.51									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2185-2187)cacfs		signal transducer and activator of transcription 3 (acute-phase response factor)																																				SO:0001589	frameshift_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40468878_40468879insG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2186dupC	17.37:g.40468884_40468884dupG	ENSP00000264657:p.Arg729fs		Somatic				STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000585517.1_Intron	p.H729fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	23	2497_2498	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	729					A8K7B8|K7ENL3|O14916|Q9BW54	Frame_Shift_Ins	INS	ENST00000264657.5	37	c.2185_2186insC	CCDS32656.1																																																																																				0.510	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	813						8	813	---	---	---	---
DLX4	1748	broad.mit.edu	37	17	48051124	48051125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:48051124_48051125insG	ENST00000240306.3	+	3	835_836	c.540_541insG	c.(541-543)gggfs	p.G181fs	DLX4_ENST00000411890.2_Frame_Shift_Ins_p.G109fs	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	181					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGCAGAATTCTGGGGGGCAGGA	0.55																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(538-543)tcggggfs		distal-less homeobox 4																																				SO:0001589	frameshift_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48051124_48051125insG		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.546dupG	17.37:g.48051130_48051130dupG	ENSP00000240306:p.Gly181fs		Somatic				DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs	p.SG180fs	NM_138281.2	NP_612138.1	WXS	Illumina GAIIx	Phase_I	Q92988	DLX4_HUMAN			3	835_836	+			180					D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Frame_Shift_Ins	INS	ENST00000240306.3	37	c.540_541insG	CCDS11555.1																																																																																				0.550	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			7	285						7	285	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247751	56247752	+	Frame_Shift_Ins	INS	-	-	A	rs569478574		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:56247751_56247752insA	ENST00000545221.1	+	1	735_736	c.735_736insA	c.(736-738)gtgfs	p.V246fs		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCCACATCATCGTGGTTTCCAT	0.53																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(733-738)attggtfs		olfactory receptor, family 4, subfamily D, member 2																																				SO:0001589	frameshift_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247751_56247752insA		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	Exception_encountered	17.37:g.56247751_56247752insA	ENSP00000441354:p.Val246fs		Somatic					p.G246fs	NM_001004707.3	NP_001004707.1	WXS	Illumina GAIIx	Phase_I	P58180	OR4D2_HUMAN			1	735_736	+			246					Q6IFN8|Q96R75	Frame_Shift_Ins	INS	ENST00000545221.1	37	c.735_736insA	CCDS32688.1																																																																																				0.530	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			23	577						23	577	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75205481	75205482	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:75205481_75205482delCT	ENST00000413679.2	+	14	1837_1838	c.1534_1535delCT	c.(1534-1536)ctgfs	p.L512fs	SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	512					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAGAGGAGCTGGAGAACGAA	0.55																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1534-1536)gfs		SEC14-like 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205481_75205482delCT	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1534_1535delCT	17.37:g.75205481_75205482delCT	ENSP00000394716:p.Leu512fs		Somatic				SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs	p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	WXS	Illumina GAIIx	Phase_I	Q92503	S14L1_HUMAN			14	1837_1838	+			512					A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Del	DEL	ENST00000413679.2	37	c.1534_1535delCT	CCDS11752.1																																																																																				0.550	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		10	76						10	76	---	---	---	---
IMPA2	3613	broad.mit.edu	37	18	12030413	12030414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:12030413_12030414insA	ENST00000269159.3	+	8	1065_1066	c.823_824insA	c.(823-825)cagfs	p.Q275fs	IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.Q86fs|RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.Q86fs	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCTCATAGCTCAGGCCTTACAG	0.619																																						ENST00000269159.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12						c.(823-825)ggcfs		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)																																			SO:0001589	frameshift_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:12030413_12030414insA	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.824dupA	18.37:g.12030414_12030414dupA	ENSP00000269159:p.Gln275fs		Somatic				IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs	p.G275fs	NM_014214.2	NP_055029.1	WXS	Illumina GAIIx	Phase_I	O14732	IMPA2_HUMAN			8	1065_1066	+			275					B0YJ29|Q9UJT3	Frame_Shift_Ins	INS	ENST00000269159.3	37	c.823_824insA	CCDS11855.1																																																																																				0.619	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			9	278						9	278	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28992968	28992969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:28992968_28992969insC	ENST00000308128.4	+	16	2668_2669	c.2533_2534insC	c.(2533-2535)gagfs	p.E845fs	DSG4_ENST00000359747.4_Frame_Shift_Ins_p.E864fs|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	845					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTCTTGCTGAGATCTGCTTA	0.421																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2590-2592)gatfs		desmoglein 4																																				SO:0001589	frameshift_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992968_28992969insC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	Exception_encountered	18.37:g.28992968_28992969insC	ENSP00000311859:p.Glu845fs		Somatic				DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.D864fs	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2619_2620	+			845					A2RUI1|Q6Y9L9|Q8IXV4	Frame_Shift_Ins	INS	ENST00000308128.4	37	c.2590_2591insC	CCDS11897.1																																																																																				0.421	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		18	242						18	242	---	---	---	---
CD97	976	broad.mit.edu	37	19	14516662	14516663	+	Frame_Shift_Ins	INS	-	-	ACAGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:14516662_14516663insACAGG	ENST00000242786.5	+	14	1812_1813	c.1732_1733insACAGG	c.(1732-1734)tcgfs	p.S578fs	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Frame_Shift_Ins_p.S485fs|CD97_ENST00000357355.3_Frame_Shift_Ins_p.S529fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	578					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCAGGGCTCGCGCACCACC	0.639																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1732-1734)gcgfs		CD97 molecule																																				SO:0001589	frameshift_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14516662_14516663insACAGG		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		Exception_encountered	19.37:g.14516662_14516663insACAGG	ENSP00000242786:p.Ser578fs		Somatic				CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs|CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA	p.A578fs	NM_078481.3	NP_510966.1	WXS	Illumina GAIIx	Phase_I	P48960	CD97_HUMAN			14	1812_1813	+			578					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Ins	INS	ENST00000242786.5	37	c.1732_1733insACAGG	CCDS32929.1																																																																																				0.639	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		20	162						20	162	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200241	33200242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:33200241_33200242insA	ENST00000397061.3	+	2	865_866	c.865_866insA	c.(865-867)gaafs	p.E289fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	289						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGAAGGACTGGAAAGGTGGCTG	0.455																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(865-867)aagfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200241_33200242insA		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.868dupA	19.37:g.33200244_33200244dupA	ENSP00000380251:p.Glu289fs		Somatic					p.K289fs	NM_001105570.1	NP_001099040.1	WXS	Illumina GAIIx	Phase_I	A8MXV4	NUD19_HUMAN			2	865_866	+	Esophageal squamous(110;0.137)		289						Frame_Shift_Ins	INS	ENST00000397061.3	37	c.865_866insA	CCDS42543.1																																																																																				0.455	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		16	423						16	423	---	---	---	---
ZNF419	79744	broad.mit.edu	37	19	58004916	58004917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:58004916_58004917delAT	ENST00000221735.7	+	5	1177_1178	c.991_992delAT	c.(991-993)atgfs	p.M331fs	ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs|ZNF419_ENST00000424930.2_Frame_Shift_Del_p.M332fs|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTCCAGCCTCATGAAACATCAG	0.401																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(994-996)gfs		zinc finger protein 419																																				SO:0001589	frameshift_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004916_58004917delAT	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.991_992delAT	19.37:g.58004916_58004917delAT	ENSP00000221735:p.Met331fs		Somatic				ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs	p.M332fs	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	WXS	Illumina GAIIx	Phase_I	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1223_1224	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	331					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Frame_Shift_Del	DEL	ENST00000221735.7	37	c.994_995delAT	CCDS54326.1																																																																																				0.401	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		39	119						39	119	---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48472092	48472092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:48472092delC	ENST00000361573.2	+	8	729	c.687delC	c.(685-687)aacfs	p.N229fs	SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.N245fs|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	229					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTATTCTCAACGATGCAGTCT	0.448																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(733-735)aafs		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							121.0	104.0	110.0					20																	48472092		2203	4300	6503	SO:0001589	frameshift_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48472092delC	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.687delC	20.37:g.48472092delC	ENSP00000354966:p.Asn229fs		Somatic				SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs	p.N245fs	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		8	945	+			229					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL	ENST00000361573.2	37	c.735delC	CCDS13421.1																																																																																				0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		8	107						8	107	---	---	---	---
IFNAR1	3454	broad.mit.edu	37	21	34725169	34725170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:34725169_34725170insT	ENST00000270139.3	+	9	1401_1402	c.1249_1250insT	c.(1249-1251)aaafs	p.K417fs	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	417	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AAAGCTGAATAAAAGCAGTGTT	0.322																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1249-1251)aagfs		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)																																			SO:0001589	frameshift_variant	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34725169_34725170insT		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	Exception_encountered	21.37:g.34725169_34725170insT	ENSP00000270139:p.Lys417fs		Somatic				IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs|IFNAR1_ENST00000442357.2_Intron	p.K417fs	NM_000629.2	NP_000620.2	WXS	Illumina GAIIx	Phase_I	P17181	INAR1_HUMAN			9	1401_1402	+			417			Fibronectin type-III 3.		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Frame_Shift_Ins	INS	ENST00000270139.3	37	c.1249_1250insT	CCDS13624.1																																																																																				0.322	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			17	70						17	70	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	38997604	38997604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:38997604delC	ENST00000609713.1	-	4	1718	c.1129delG	c.(1129-1131)gcafs	p.A377fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	377					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGCAGCTCTGCCCTGCTGGCT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1129-1131)cafs		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						156.0	150.0	152.0					21																	38997604		1925	4150	6075	SO:0001589	frameshift_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997604delC	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1129delG	21.37:g.38997604delC	ENSP00000477437:p.Ala377fs		Somatic				KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	p.A377fs	NM_002240.3	NP_002231.1	WXS	Illumina GAIIx	Phase_I	P48051	IRK6_HUMAN			4	1718	-			377					Q3MJ74|Q53WW6	Frame_Shift_Del	DEL	ENST00000609713.1	37	c.1129delG	CCDS42927.1																																																																																				0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		15	156						15	156	---	---	---	---
PARVB	29780	broad.mit.edu	37	22	44547421	44547422	+	In_Frame_Ins	INS	-	-	TTG	rs528326067		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:44547421_44547422insTTG	ENST00000338758.7	+	10	896_897	c.833_834insTTG	c.(832-837)ctggag>ctTTGggag	p.278_279LE>LWE	PARVB_ENST00000404989.1_In_Frame_Ins_p.241_242LE>LWE|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_312LE>LWE	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	278	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACGGAACTGGAGACCCAGG	0.51																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(832-834)cga>cTTGga		parvin, beta																																				SO:0001652	inframe_insertion	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44547421_44547422insTTG	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	Exception_encountered	22.37:g.44547421_44547422insTTG	ENSP00000342492:p.Leu278_Glu279insTrp		Somatic				PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG	p.278_278R>LG	NM_013327.4	NP_037459.2	WXS	Illumina GAIIx	Phase_I	Q9HBI1	PARVB_HUMAN			10	896_897	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	278			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	In_Frame_Ins	INS	ENST00000338758.7	37	c.833_834insTTG	CCDS14056.1																																																																																				0.510	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		12	450						12	450	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46654994	46654994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:46654994delT	ENST00000253255.5	-	1	4225	c.4226delA	c.(4225-4227)aatfs	p.N1409fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1409					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTATTTAGATTAAAGAACAT	0.338																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4225-4227)atfs		polycystin (PKD) family receptor for egg jelly							54.0	54.0	54.0					22																	46654994		2203	4299	6502	SO:0001589	frameshift_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654994delT	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4226delA	22.37:g.46654994delT	ENSP00000253255:p.Asn1409fs		Somatic					p.N1409fs	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4225	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1409					B1AJY3|O95850	Frame_Shift_Del	DEL	ENST00000253255.5	37	c.4226delA	CCDS14073.1																																																																																				0.338	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		10	206						10	206	---	---	---	---
