#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HGFAC	3083	broad.mit.edu	37	4	3449269	3449269	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:3449269G>A	ENST00000382774.3	+	11	1521	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	469	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTTCAACCGCACGACGGAC	0.662																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1405-1407)cGc>cAc		HGF activator							168.0	147.0	154.0					4																	3449269		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449269G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1406G>A	4.37:g.3449269G>A	ENSP00000372224:p.Arg469His					HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	p.R469H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1521	+			469			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1406G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726303	0.30593	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.43	3.59	-4.04	0.04010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.403240	0.04595	N	0.397497	T	0.74943	0.3783	N	0.16098	0.37	0.09310	N	1	P;B	0.48589	0.912;0.147	B;B	0.41691	0.364;0.058	T	0.68401	-0.5418	10	0.36615	T	0.2	.	0.6507	0.00826	0.3713:0.1218:0.2609:0.2459	.	476;469	D6RAR4;Q04756	.;HGFA_HUMAN	H	469;476	ENSP00000372224:R469H;ENSP00000421801:R476H	ENSP00000372224:R469H	R	+	2	0	HGFAC	3419067	0.000000	0.05858	0.008000	0.14137	0.772000	0.43724	-1.195000	0.03043	-0.717000	0.04955	0.561000	0.74099	CGC		0.662	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			6	896	0	0	0	1	0	6	896				
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		7	952	0	0	0	1	0	7	952				
PLXNB2	23654	broad.mit.edu	37	22	50722589	50722589	+	Silent	SNP	G	G	A	rs551050919		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:50722589G>A	ENST00000449103.1	-	13	2375	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Y745Y			O15031	PLXB2_HUMAN	plexin B2	745					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Y788Y(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TATTCTTGCCGTAAGACTTGA	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		9821	0.001		0.0	False		,,,				2504	0.0					ENST00000449103.1																			1	Substitution - coding silent(1)	p.Y788Y(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2233-2235)taC>taT		plexin B2							52.0	56.0	55.0					22																	50722589		2085	4203	6288	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722589G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2235C>T	22.37:g.50722589G>A						PLXNB2_ENST00000359337.4_Silent_p.Y745Y|PLXNB2_ENST00000496720.1_5'UTR	p.Y745Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	2375	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	745					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2235C>T	CCDS43035.1																																																																																				0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	290	0	0	0	1	0	4	290				
PPFIBP1	8496	broad.mit.edu	37	12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:27841316C>T	ENST00000318304.8	+	25	2757	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	825	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2473-2475)gCg>gTg		PTPRF interacting protein, binding protein 1 (liprin beta 1)							249.0	241.0	244.0					12																	27841316		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841316C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2474C>T	12.37:g.27841316C>T	ENSP00000314724:p.Ala825Val					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V	p.A825V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			25	2757	+	Lung SC(9;0.0873)		825			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2474C>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.485176|5.485176	0.96323|0.96323	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	D;D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95;-1.95|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.33959|.	U|.	0.004396|.	D|D	0.84356|0.84356	0.5454|0.5454	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.972;1.0|.	D|D	0.86957|0.86957	0.2089|0.2089	10|5	0.66056|.	D|.	0.02|.	-13.8284|-13.8284	18.5085|18.5085	0.90907|0.90907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;656;825;819;794|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|C	656;672;825;794;819|56	ENSP00000444304:A656V;ENSP00000445425:A672V;ENSP00000314724:A825V;ENSP00000443442:A794V;ENSP00000228425:A819V|.	ENSP00000228425:A819V|.	A|R	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27732583|27732583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.716000|7.716000	0.84723|0.84723	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		9	1361	0	0	0	1	0	9	1361				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	88	0	0	0	1	0	7	88				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		5	238	0	0	0	1	0	5	238				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	64	0	0	0	1	0	3	64				
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			5	626	0	0	0	1	0	5	626				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	240	0	0	0	1	0	5	240				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			7	381	0	0	0	1	0	7	381				
VTA1	51534	broad.mit.edu	37	6	142487422	142487422	+	Missense_Mutation	SNP	G	G	A	rs542577369	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:142487422G>A	ENST00000367630.4	+	2	228	c.170G>A	c.(169-171)cGc>cAc	p.R57H	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	57	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CCTGAATGTCGCAAATTTTTA	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14800	0.0		0.0	False		,,,				2504	0.0					ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(169-171)cGc>cAc		vesicle (multivesicular body) trafficking 1							109.0	112.0	111.0					6																	142487422		2203	4299	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142487422G>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.170G>A	6.37:g.142487422G>A	ENSP00000356602:p.Arg57His					VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	p.R57H	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	2	228	+	Breast(32;0.155)		57			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.170G>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052045	0.93793	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.46063	0.88	5.55	5.55	0.83447	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.65344	-0.6191	10	0.44086	T	0.13	-13.33	19.4973	0.95079	0.0:0.0:1.0:0.0	.	57	Q9NP79	VTA1_HUMAN	H	57;58	ENSP00000356602:R57H	ENSP00000356602:R57H	R	+	2	0	VTA1	142529115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.609000	0.90898	2.597000	0.87782	0.655000	0.94253	CGC		0.299	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		6	588	0	0	0	1	0	6	588				
ZFP69	339559	broad.mit.edu	37	1	40945109	40945109	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:40945109G>A	ENST00000372706.1	+	2	1082	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	26	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAGAAGGCCGTGGAGGGGGC	0.562																																						ENST00000372706.1																			0											c.(76-78)Gtg>Atg		ZFP69 zinc finger protein							47.0	49.0	49.0					1																	40945109		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40945109G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.76G>A	1.37:g.40945109G>A	ENSP00000361791:p.Val26Met					ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M	p.V26M							2	1082	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.76G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	5.567	0.289429	0.10567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05649	3.41;3.41	4.35	0.72	0.18214	.	0.964602	0.08443	N	0.945143	T	0.03739	0.0106	N	0.14661	0.345	0.19300	N	0.999973	B	0.17268	0.021	B	0.04013	0.001	T	0.43702	-0.9375	10	0.51188	T	0.08	.	3.2889	0.06942	0.5663:0.2115:0.2222:0.0	.	26	Q49AA0	ZN642_HUMAN	M	26	ENSP00000361791:V26M;ENSP00000361790:V26M	ENSP00000361790:V26M	V	+	1	0	ZNF642	40717696	0.135000	0.22499	0.800000	0.32199	0.030000	0.12068	0.096000	0.15147	0.261000	0.21753	-0.238000	0.12139	GTG		0.562	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		9	259	0	0	0	1	0	9	259				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	C	rs192934815		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:102304884G>C	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>C														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	97	0	0	0	1	0	7	97				
TENM1	10178	broad.mit.edu	37	X	123695525	123695525	+	Silent	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123695525A>G	ENST00000371130.3	-	14	2493	c.2430T>C	c.(2428-2430)gaT>gaC	p.D810D	TENM1_ENST00000422452.2_Silent_p.D810D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	810					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)										ACTCACCTCCATCATTGTCCA	0.448																																						ENST00000422452.2																			0											c.(2428-2430)gaT>gaC		teneurin transmembrane protein 1							177.0	149.0	159.0					X																	123695525		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123695525A>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.2430T>C	X.37:g.123695525A>G						TENM1_ENST00000371130.3_Silent_p.D810D	p.D810D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					14	2493	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.2430T>C	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		11	847	0	0	0	1	0	11	847				
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	Missense_Mutation	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:79616605C>G	ENST00000296739.4	+	1	816	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(571-573)Cag>Gag		spermatogenic leucine zipper 1							80.0	73.0	75.0					5																	79616605		1823	4086	5909	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616605C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>G	5.37:g.79616605C>G	ENSP00000369611:p.Gln191Glu						p.Q191E	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	816	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	191					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.571C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896756	0.02472	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.37235	1.21;1.75	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	T	0.09862	0.0242	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35276	-0.9795	10	0.02654	T	1	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	191	Q9BXG8	SPZ1_HUMAN	E	191	ENSP00000426530:Q191E;ENSP00000369611:Q191E	ENSP00000369611:Q191E	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		6	441	0	0	0	1	0	6	441				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	105	0	0	0	1	0	6	105				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	87	0	0	0	1	0	8	87				
HRASLS5	117245	broad.mit.edu	37	11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000301790.4	-	2	392	c.233C>T	c.(232-234)cCg>cTg	p.P78L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L|HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(202-204)cCg>cTg		HRAS-like suppressor family, member 5							185.0	208.0	200.0					11																	63257751		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257751G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.233C>T	11.37:g.63257751G>A	ENSP00000301790:p.Pro78Leu					HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L	p.P68L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	335	-			78					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.203C>T	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114974	0.20795	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.26373	1.74;2.24;1.75	3.67	-1.79	0.07932	.	2.087150	0.02276	N	0.068944	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B;P;B	0.41673	0.041;0.759;0.056	B;B;B	0.28305	0.016;0.088;0.019	T	0.38067	-0.9678	10	0.51188	T	0.08	-2.3493	10.9222	0.47171	0.0:0.0:0.5125:0.4875	.	78;68;78	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	68;78;78	ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L	ENSP00000301790:P78L	P	-	2	0	HRASLS5	63014327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.331000	0.08501	-1.142000	0.01873	CCG		0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		427	1031	0	0	0	1	0	427	1031				
GABRR3	200959	broad.mit.edu	37	3	97744480	97744480	+	RNA	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:97744480G>A	ENST00000472788.1	-	0	170					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTCTGAGGCCGCGCTTTGGTA	0.383																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							165.0	156.0	159.0					3																	97744480		1839	4090	5929			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744480G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744480G>A								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	170	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.383	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			41	118	0	0	0	1	0	41	118				
BMS1P20	96610	broad.mit.edu	37	22	22664239	22664239	+	RNA	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:22664239C>T	ENST00000426066.1	+	0	762					NR_027293.1				BMS1 pseudogene 20																		GGATAAGCTGCTGATGAGCGG	0.532																																						ENST00000426066.1																			0																																																			0							g.chr22:22664239C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664239C>T								NR_027293.1						0	762	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	289	0	0	0	1	0	6	289				
CNTN3	5067	broad.mit.edu	37	3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGGCTATTTGCAGAGACTTGA	0.383																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2431-2433)Gca>Aca		contactin 3 (plasmacytoma associated)							98.0	91.0	94.0					3																	74344358		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344358C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2431G>A	3.37:g.74344358C>T	ENSP00000263665:p.Ala811Thr						p.A811T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2458	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	811			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2431G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619386	0.87460	.	.	ENSG00000113805	ENST00000263665	T	0.60299	0.2	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176408	0.50627	D	0.000108	T	0.62196	0.2408	M	0.63843	1.955	0.51233	D	0.999919	B	0.27166	0.17	B	0.37692	0.256	T	0.62863	-0.6764	10	0.59425	D	0.04	.	14.528	0.67902	0.1464:0.8535:0.0:0.0	.	811	Q9P232	CNTN3_HUMAN	T	811	ENSP00000263665:A811T	ENSP00000263665:A811T	A	-	1	0	CNTN3	74427048	1.000000	0.71417	0.435000	0.26784	0.996000	0.88848	5.357000	0.66058	2.649000	0.89929	0.650000	0.86243	GCA		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		89	242	0	0	0	1	0	89	242				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	515	0	0	0	1	0	5	515				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	170	0	0	0	1	0	8	170				
SLC1A4	6509	broad.mit.edu	37	2	65245311	65245311	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:65245311G>A	ENST00000234256.3	+	6	1384	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	381					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAACATGGACGGAGCAGCCAT	0.512																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1141-1143)Gga>Aga		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						133.0	123.0	126.0					2																	65245311		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245311G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1141G>A	2.37:g.65245311G>A	ENSP00000234256:p.Gly381Arg					SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	p.G381R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			6	1384	+			381					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1141G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576656	0.96565	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	D;D	0.84370	-1.84;-1.84	6.17	6.17	0.99709	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96776	0.9572	9	.	.	.	-12.7631	20.8794	0.99867	0.0:0.0:1.0:0.0	.	381;83;381	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	R	83;301;381	ENSP00000431942:G83R;ENSP00000234256:G381R	.	G	+	1	0	SLC1A4	65098815	1.000000	0.71417	0.283000	0.24790	0.980000	0.70556	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA		0.512	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		5	353	0	0	0	1	0	5	353				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		18	143	0	0	0	1	0	18	143				
RPL19	6143	broad.mit.edu	37	17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:37360818C>G	ENST00000225430.4	+	6	570	c.508C>G	c.(508-510)Cgc>Ggc	p.R170G	RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579260.1_Missense_Mutation_p.R168G	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	170					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527																																						ENST00000579260.1																			0				kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(502-504)Cgc>Ggc		ribosomal protein L19							75.0	81.0	79.0					17																	37360818		1925	4125	6050	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37360818C>G		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.508C>G	17.37:g.37360818C>G	ENSP00000225430:p.Arg170Gly					RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000225430.4_Missense_Mutation_p.R170G	p.R168G			P84098	RL19_HUMAN			6	905	+			170					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.502C>G	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165415	0.57476	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.33	4.37	0.52481	.	0.059366	0.64402	D	0.000004	T	0.72415	0.3457	M	0.93197	3.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73132	-0.4079	9	0.72032	D	0.01	.	8.6764	0.34181	0.1508:0.7734:0.0:0.0758	.	170	P84098	RL19_HUMAN	G	170	.	ENSP00000225430:R170G	R	+	1	0	RPL19	34614344	0.998000	0.40836	0.938000	0.37757	0.980000	0.70556	3.717000	0.54911	1.257000	0.44085	0.563000	0.77884	CGC		0.527	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		7	476	0	0	0	1	0	7	476				
RNASE7	84659	broad.mit.edu	37	14	21511178	21511178	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:21511178C>T	ENST00000298690.4	+	2	284	c.27C>T	c.(25-27)tgC>tgT	p.C9C	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	9					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGATTCTGCCCCCTTCTGC	0.572																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(25-27)tgC>tgT		ribonuclease, RNase A family, 7							40.0	39.0	39.0					14																	21511178		2200	4300	6500	SO:0001819	synonymous_variant	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511178C>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.27C>T	14.37:g.21511178C>T						NDRG2_ENST00000403829.3_Intron	p.C9C	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	284	+	all_cancers(95;0.000759)		9					P80927|P83685|Q546N3	Silent	SNP	ENST00000298690.4	37	c.27C>T	CCDS41914.1																																																																																				0.572	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		4	132	0	0	0	1	0	4	132				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	553	0	0	0	1	0	7	553				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3373-3375)Aga>Gga		trichohyalin							93.0	94.0	94.0					1																	152082320		1979	4139	6118	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082320T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3373A>G	1.37:g.152082320T>C	ENSP00000357794:p.Arg1125Gly						p.R1125G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3372	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3373A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	5.521	0.281051	0.10458	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.38	1.02	0.19986	.	.	.	.	.	T	0.04407	0.0121	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.59171	0.853	T	0.40590	-0.9555	9	0.28530	T	0.3	.	5.1512	0.15011	0.0:0.0:0.3026:0.6974	.	1125	Q07283	TRHY_HUMAN	G	1125	ENSP00000357794:R1125G	ENSP00000357794:R1125G	R	-	1	2	TCHH	150348944	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	1.171000	0.31896	0.940000	0.37473	0.379000	0.24179	AGA		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	475	0	0	0	1	0	8	475				
PPP1R3C	5507	broad.mit.edu	37	10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C	rs373998228		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(745-747)aAt>aGt		protein phosphatase 1, regulatory subunit 3C							105.0	94.0	98.0					10																	93389892		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93389892T>C	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.746A>G	10.37:g.93389892T>C	ENSP00000238994:p.Asn249Ser						p.N249S	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	830	-		Colorectal(252;0.235)	249			CBM21.|Interaction with EPM2A.			Missense_Mutation	SNP	ENST00000238994.5	37	c.746A>G	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270056	0.59540	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.76316	-1.01	5.73	3.31	0.37934	Putative phosphatase regulatory subunit (2);	0.049016	0.85682	D	0.000000	D	0.90689	0.7079	H	0.97491	4.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90361	0.4373	10	0.87932	D	0	-21.2088	8.006	0.30325	0.121:0.0672:0.0:0.8117	.	249	Q9UQK1	PPR3C_HUMAN	S	249;229;131	ENSP00000238994:N249S	ENSP00000238994:N249S	N	-	2	0	PPP1R3C	93379872	1.000000	0.71417	0.882000	0.34594	0.884000	0.51177	6.240000	0.72363	0.954000	0.37851	0.533000	0.62120	AAT		0.453	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		119	322	0	0	0	1	0	119	322				
ALG1L	200810	broad.mit.edu	37	3	125647441	125647441	+	IGR	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:125647441C>T	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CACTGTAGGACTCACACACGA	0.463																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647441C>T	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647441C>T								NR_024251.1						0	586	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.463	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		7	479	0	0	0	1	0	7	479				
CHD3	1107	broad.mit.edu	37	17	7796819	7796819	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7796819T>C	ENST00000330494.7	+	5	875	c.725T>C	c.(724-726)cTt>cCt	p.L242P	CHD3_ENST00000358181.4_Missense_Mutation_p.L242P|CHD3_ENST00000380358.4_Missense_Mutation_p.L301P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	242					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCCCCGCCCTTCCACCACCC	0.632																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(901-903)cTt>cCt		chromodomain helicase DNA binding protein 3							30.0	29.0	29.0					17																	7796819		2194	4276	6470	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796819T>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.725T>C	17.37:g.7796819T>C	ENSP00000332628:p.Leu242Pro					CHD3_ENST00000330494.7_Missense_Mutation_p.L242P|CHD3_ENST00000358181.4_Missense_Mutation_p.L242P	p.L301P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	903	+		Prostate(122;0.202)	242					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.902T>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245426	0.39697	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.62;-2.62	3.97	3.97	0.46021	.	0.000000	0.33057	N	0.005327	D	0.89410	0.6707	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.78314	0.991;0.979;0.979	D	0.87932	0.2711	10	0.30078	T	0.28	-12.7931	12.7918	0.57539	0.0:0.0:0.0:1.0	.	242;242;301	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	P	301;242;242	ENSP00000369716:L301P;ENSP00000350907:L242P;ENSP00000332628:L242P	ENSP00000332628:L242P	L	+	2	0	CHD3	7737544	0.827000	0.29292	1.000000	0.80357	0.984000	0.73092	2.257000	0.43240	2.031000	0.59945	0.454000	0.30748	CTT		0.632	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		9	134	0	0	0	1	0	9	134				
PTPRF	5792	broad.mit.edu	37	1	44064491	44064491	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCATGGCCAGATCCGCGGCT	0.647																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2218-2220)caG>caA		protein tyrosine phosphatase, receptor type, F							62.0	55.0	58.0					1																	44064491		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44064491G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2220G>A	1.37:g.44064491G>A						PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.Q97Q	p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			13	2560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	740			Fibronectin type-III 5.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2220G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.913|8.913	0.959151|0.959151	0.18507|0.18507	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.58308|0.58308	0.2113|0.2113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56062|0.56062	-0.8041|-0.8041	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|.	.|.	.|.	N|K	306;163|397	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43837078|43837078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.815000|1.815000	0.38981|0.38981	2.143000|2.143000	0.66587|0.66587	0.449000|0.449000	0.29647|0.29647	GAT|AGA		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			38	230	0	0	0	1	0	38	230				
KRTAP10-3	386682	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	rs587619630	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0.0		0.0	False		,,,				2504	0.0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164.0	164.0	164.0					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.I123V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			9	876	0	0	0	1	0	9	876				
AMER2	219287	broad.mit.edu	37	13	25744404	25744404	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:25744404C>T	ENST00000515384.1	-	1	2021	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	AMER2_ENST00000357816.2_Missense_Mutation_p.E333K|AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	452					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TCCTGGGGCTCGGGTCCCTGC	0.657																																						ENST00000357816.2																			0											c.(997-999)Gag>Aag		APC membrane recruitment protein 2							24.0	22.0	22.0					13																	25744404		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744404C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1354G>A	13.37:g.25744404C>T	ENSP00000426528:p.Glu452Lys					AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2_ENST00000515384.1_Missense_Mutation_p.E452K	p.E333K							3	1472	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.997G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	6.954	0.545819	0.13312	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.16897	2.31;2.31;2.31	4.6	4.6	0.57074	.	0.331247	0.28572	N	0.014875	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.005	B;B	0.14578	0.011;0.003	T	0.33954	-0.9848	10	0.09590	T	0.72	-5.5157	9.997	0.41905	0.0:0.8971:0.0:0.1029	.	452;333	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	333;333;452	ENSP00000350469:E333K;ENSP00000371277:E333K;ENSP00000426528:E452K	ENSP00000350469:E333K	E	-	1	0	FAM123A	24642404	0.000000	0.05858	0.023000	0.16930	0.064000	0.16182	0.150000	0.16263	2.383000	0.81215	0.561000	0.74099	GAG		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		26	91	0	0	0	1	0	26	91				
ZNF687	57592	broad.mit.edu	37	1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					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)			GGTGGTGAGCGTACAGTTGGG	0.597																																						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.(1162-1164)Gta>Ata		zinc finger protein 687							72.0	64.0	67.0					1																	151259929		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259929G>A		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	ENST00000368879.2:c.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile						p.V388I	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1260	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		388					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA		0.597	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		5	277	0	0	0	1	0	5	277				
ATRX	546	broad.mit.edu	37	X	76918967	76918967	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:76918967G>A	ENST00000373344.5	-	12	4238	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1342W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTTGTGCCGCAAAAGCCTA	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.R1342W(2)|p.?(1)	kidney(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4024-4026)Cgg>Tgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						113.0	93.0	100.0					X																	76918967		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918967G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4024C>T	X.37:g.76918967G>A	ENSP00000362441:p.Arg1342Trp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	p.R1342W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4238	-			1342					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4024C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880033	0.72294	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.19;-3.18	4.16	2.88	0.33553	.	0.000000	0.64402	U	0.000002	D	0.95421	0.8513	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	D	0.94455	0.7671	10	0.87932	D	0	-7.7306	10.9129	0.47118	0.0:0.0:0.4405:0.5595	.	1274;1304;1342	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	W	1342;1304;1269	ENSP00000362441:R1342W;ENSP00000378967:R1304W	ENSP00000362441:R1342W	R	-	1	2	ATRX	76805623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.736000	0.47385	0.424000	0.26061	-0.314000	0.08810	CGG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	535	0	0	0	1	0	5	535				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		10	426	0	0	0	1	0	10	426				
CCNYL2	414194	broad.mit.edu	37	10	42928768	42928768	+	RNA	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:42928768G>A	ENST00000483242.3	-	0	732					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGTCGAACATGAACTGTATTG	0.368																																						ENST00000483242.3																			0				breast(2)|endometrium(1)|lung(3)|ovary(1)	7								cyclin Y-like 2																																						414194							g.chr10:42928768G>A	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42928768G>A								NR_103829.1						0	732	-									RNA	SNP	ENST00000483242.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.44|11.44	1.640864|1.640864	0.29157|0.29157	.|.	.|.	ENSG00000182632|ENSG00000182632	ENST00000431603|ENST00000426433	.|.	.|.	.|.	2.03|2.03	2.03|2.03	0.26663|0.26663	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.62792|0.62792	0.2457|0.2457	.|.	.|.	.|.	0.49389|0.49389	D|D	0.99978|0.99978	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.65672|0.65672	-0.6111|-0.6111	4|6	.|0.87932	.|D	.|0	.|.	7.6421|7.6421	0.28300|0.28300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	Y|L	48|122	.|.	.|ENSP00000395902:S122L	H|S	-|-	1|2	0|0	CCNYL2|CCNYL2	42248774|42248774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.047000|0.047000	0.14425|0.14425	6.761000|6.761000	0.74945|0.74945	1.467000|1.467000	0.48044|0.48044	0.298000|0.298000	0.19748|0.19748	CAT|TCA		0.368	CCNYL2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047670.5	XM_936368		7	265	0	0	0	1	0	7	265				
GBP1	2633	broad.mit.edu	37	1	89528769	89528769	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:89528769C>T	ENST00000370473.4	-	2	368	c.149G>A	c.(148-150)gGc>gAc	p.G50D		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	50	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTAGGATTTGCCTGTGCGGTA	0.517																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(148-150)gGc>gAc		guanylate binding protein 1, interferon-inducible							145.0	130.0	135.0					1																	89528769		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89528769C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.149G>A	1.37:g.89528769C>T	ENSP00000359504:p.Gly50Asp						p.G50D	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	368	-		Lung NSC(277;0.123)	50					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.149G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057674	0.55325	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	D	0.97994	-4.65	4.76	4.76	0.60689	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.99415	4.555	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.87932	D	0	.	15.2561	0.73585	0.0:1.0:0.0:0.0	.	50	P32455	GBP1_HUMAN	D	50;13	ENSP00000359504:G50D	ENSP00000359504:G50D	G	-	2	0	GBP1	89301357	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.298000	0.59067	2.186000	0.69663	0.313000	0.20887	GGC		0.517	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		5	502	0	0	0	1	0	5	502				
COX10-AS1	100874058	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:13927900T>C	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		GAGCCTTTTCTGACGATGCCG	0.572																																						ENST00000602743.1																			0																																																			0							g.chr17:13927900T>C			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927900T>C														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.572	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			4	203	0	0	0	1	0	4	203				
PRPF38A	84950	broad.mit.edu	37	1	52870463	52870463	+	Silent	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	ORC1_ENST00000371566.1_5'Flank|ORC1_ENST00000371568.3_5'Flank|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCATCCATGGCACCAACCCTC	0.463											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257181.9																			0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(40-42)ggC>ggG		pre-mRNA processing factor 38A							107.0	97.0	100.0					1																	52870463		2203	4300	6503	SO:0001819	synonymous_variant	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52870463C>G	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.42C>G	1.37:g.52870463C>G			OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	PRPF38A_ENST00000474048.1_3'UTR	p.G14G	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN			1	228	+			14					Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	c.42C>G	CCDS567.1																																																																																				0.463	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		46	332	0	0	0	1	0	46	332				
ZNFX1	57169	broad.mit.edu	37	20	47871123	47871123	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGATGTGCGGTACTGGCGTT	0.512																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2866-2868)taC>taT		zinc finger, NFX1-type containing 1							190.0	162.0	172.0					20																	47871123		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47871123G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2868C>T	20.37:g.47871123G>A						ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	3114	-			956					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2868C>T	CCDS13417.1																																																																																				0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	644	0	0	0	1	0	5	644				
OSMR	9180	broad.mit.edu	37	5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCCTTTGGAATGTGCCACACA	0.473																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(319-321)Tgt>Cgt		oncostatin M receptor							113.0	109.0	110.0					5																	38881767		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881767T>C	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.319T>C	5.37:g.38881767T>C	ENSP00000274276:p.Cys107Arg					OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			4	721	+	all_lung(31;0.000365)		107					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.319T>C	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215522	0.58452	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	.	0.098018	0.85682	D	0.000000	T	0.77948	0.4207	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80571	-0.1323	10	0.87932	D	0	.	12.5437	0.56186	0.0:0.0:0.0:1.0	.	107;107	Q99650;Q99650-2	OSMR_HUMAN;.	R	107	ENSP00000422023:C107R;ENSP00000274276:C107R	ENSP00000274276:C107R	C	+	1	0	OSMR	38917524	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	4.331000	0.59273	2.216000	0.71823	0.533000	0.62120	TGT		0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		105	330	0	0	0	1	0	105	330				
MAB21L1	4081	broad.mit.edu	37	13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGATTTTGCGCGCCGAGAG	0.587																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(376-378)cGc>cAc		mab-21-like 1 (C. elegans)							44.0	45.0	45.0					13																	36049899		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049899C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.377G>A	13.37:g.36049899C>T	ENSP00000369251:p.Arg126His					NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	p.R126H	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	933	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	126					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.377G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533938	0.85812	.	.	ENSG00000180660	ENST00000379919	T	0.08634	3.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06679	-1.0813	10	0.46703	T	0.11	-0.3257	19.7375	0.96212	0.0:1.0:0.0:0.0	.	126	Q13394	MB211_HUMAN	H	126	ENSP00000369251:R126H	ENSP00000369251:R126H	R	-	2	0	MAB21L1	34947899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC		0.587	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		4	167	0	0	0	1	0	4	167				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		11	273	0	0	0	1	0	11	273				
SORCS1	114815	broad.mit.edu	37	10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(496-498)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							84.0	73.0	76.0					10																	108923788		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923788G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.497C>T	10.37:g.108923788G>A	ENSP00000263054:p.Ala166Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	504	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	166					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.497C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794235	0.31777	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	.	0.189340	0.36482	N	0.002569	T	0.31765	0.0807	N	0.11756	0.17	0.37005	D	0.895445	D;D;P;D;P	0.59767	0.977;0.986;0.954;0.977;0.954	B;P;P;P;P	0.51170	0.341;0.661;0.455;0.46;0.455	T	0.18555	-1.0333	9	.	.	.	-10.9687	17.3761	0.87392	0.0:0.0:1.0:0.0	.	166;166;166;166;166	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	166	ENSP00000263054:A166V;ENSP00000345964:A166V	.	A	-	2	0	SORCS1	108913778	1.000000	0.71417	0.984000	0.44739	0.457000	0.32468	4.741000	0.62095	2.666000	0.90696	0.655000	0.94253	GCG		0.607	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	248	0	0	0	1	0	4	248				
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:17085189A>G	ENST00000455405.2	-	0	87							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.S428P(1)	kidney(1)																																																0							g.chr1:17085189A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085189A>G														0	87	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.85	1.762304	0.31228	.	.	ENSG00000186715	ENST00000389184	.	.	.	.	.	.	.	.	.	.	.	T	0.41373	0.1156	.	.	.	.	.	.	.	.	.	.	.	.	T	0.49133	-0.8971	2	0.35671	T	0.21	.	.	.	.	.	.	.	.	P	428	.	ENSP00000445850:S428P	S	-	1	0	MST1P9	16957776	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-1.003000	0.03682	0.000000	0.14550	0.000000	0.15137	TCA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	138	0	0	0	1	0	5	138				
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	rs200244502		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GGAGATGTCCGTAAGGTTTGG	0.393																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(298-300)cGt>cAt		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117.0	110.0	112.0		299	1.4	0.0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His					RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	p.R100H	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			3	938	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		5	380	0	0	0	1	0	5	380				
ZFAND2A	90637	broad.mit.edu	37	7	1195155	1195155	+	Silent	SNP	T	T	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000316495.3	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000401903.1_Silent_p.P72P	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(214-216)ccA>ccT		zinc finger, AN1-type domain 2A							181.0	169.0	173.0					7																	1195155		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195155T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.216A>T	7.37:g.1195155T>A						ZFAND2A_ENST00000316495.3_Silent_p.P72P	p.P72P			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	475	-		Ovarian(82;0.11)	72					A4D220	Silent	SNP	ENST00000316495.3	37	c.216A>T	CCDS5323.1																																																																																				0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		138	491	0	0	0	1	0	138	491				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	338	0	0	0	1	0	7	338				
SLC14A2	8170	broad.mit.edu	37	18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1654-1656)Agg>Ggg		solute carrier family 14 (urea transporter), member 2							91.0	84.0	87.0					18																	43246996		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43246996A>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1654A>G	18.37:g.43246996A>G	ENSP00000255226:p.Arg552Gly					SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			13	2470	+			552					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1654A>G	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495556	0.12762	.	.	ENSG00000132874	ENST00000255226	T	0.36699	1.24	4.37	4.37	0.52481	.	0.340286	0.24960	N	0.034236	T	0.31544	0.0800	L	0.50333	1.59	0.32344	N	0.559296	B	0.12630	0.006	B	0.20955	0.032	T	0.34950	-0.9808	10	0.38643	T	0.18	-7.2644	9.2009	0.37258	0.8181:0.1819:0.0:0.0	.	552	Q15849	UT2_HUMAN	G	552	ENSP00000255226:R552G	ENSP00000255226:R552G	R	+	1	2	SLC14A2	41500994	0.038000	0.19896	0.307000	0.25127	0.095000	0.18619	0.812000	0.27211	1.827000	0.53221	0.533000	0.62120	AGG		0.478	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			4	132	0	0	0	1	0	4	132				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	193	0	0	0	1	0	7	193				
KRIT1	889	broad.mit.edu	37	7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																						ENST00000394507.1																			1	Substitution - Nonsense(1)	p.R140*(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(418-420)Cga>Tga		KRIT1, ankyrin repeat containing							99.0	104.0	102.0					7																	91865794		2203	4299	6502	SO:0001587	stop_gained	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91865794G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*					KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*	p.R140*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1201	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		140					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	c.418C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			100	224	0	0	0	1	0	100	224				
KPTN	11133	broad.mit.edu	37	19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACTCACGGGCAATAGAGTC	0.617											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(391-393)gCc>gTc		kaptin (actin binding protein)							117.0	130.0	126.0					19																	47986554		2086	4201	6287	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986554G>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.392C>T	19.37:g.47986554G>A	ENSP00000337850:p.Ala131Val		OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	p.A131V	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	3	499	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	131					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.392C>T	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458714	0.96240	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84270	0.0488	9	0.72032	D	0.01	-25.3185	16.3782	0.83418	0.0:0.0:1.0:0.0	.	131	Q9Y664	KPTN_HUMAN	V	131	.	ENSP00000337850:A131V	A	-	2	0	KPTN	52678366	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.893000	0.92498	2.214000	0.71695	0.491000	0.48974	GCC		0.617	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			5	483	0	0	0	1	0	5	483				
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				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)			TCTTCAGACCGCATTGCTCGG	0.502																																						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.(757-759)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							180.0	154.0	163.0					5																	153760011		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760011G>A	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.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His					GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA	p.R253H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	253			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.758G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	537	0	0	0	1	0	5	537				
UROC1	131669	broad.mit.edu	37	3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACATAGGAAGGGTAGCGGAAC	0.627																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1291-1293)Cct>Act		urocanate hydratase 1							114.0	75.0	88.0					3																	126218205		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218205G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1291C>A	3.37:g.126218205G>T	ENSP00000290868:p.Pro431Thr					UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	p.P431T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	13	1344	-			431					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1291C>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583912	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.64438	-0.1;-0.1	4.89	4.89	0.63831	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90105	0.4187	10	0.72032	D	0.01	0.5184	15.5628	0.76262	0.0:0.0:1.0:0.0	.	491;431	E9PE13;Q96N76	.;HUTU_HUMAN	T	431;491	ENSP00000290868:P431T;ENSP00000373073:P491T	ENSP00000290868:P431T	P	-	1	0	UROC1	127700895	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.216000	0.95154	2.262000	0.75019	0.585000	0.79938	CCT		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		27	105	1	0	3.73148e-12	1	3.96915e-12	27	105				
ITFG2	55846	broad.mit.edu	37	12	2929350	2929350	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:2929350G>A	ENST00000228799.2	+	5	644	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	169					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACATCTGACAGGGCAGCTGGT	0.597																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(505-507)Ggg>Agg		integrin alpha FG-GAP repeat containing 2							99.0	72.0	81.0					12																	2929350		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2929350G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.505G>A	12.37:g.2929350G>A	ENSP00000228799:p.Gly169Arg					ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	p.G169R	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	644	+			169					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.505G>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914335	0.92178	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.73152	-0.72;1.97	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87007	0.2120	10	0.72032	D	0.01	-0.3388	16.5494	0.84464	0.0:0.0:1.0:0.0	.	169	Q969R8	ITFG2_HUMAN	R	169;57	ENSP00000228799:G169R;ENSP00000437870:G57R	ENSP00000228799:G169R	G	+	1	0	ITFG2	2799611	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.238000	0.95380	2.384000	0.81235	0.561000	0.74099	GGG		0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		5	110	0	0	0	1	0	5	110				
SLC39A5	283375	broad.mit.edu	37	12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155.0	155.0	155.0					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1265	0	0	0	1	0	7	1265				
FAM13C	220965	broad.mit.edu	37	10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000373868.2	-	8	893	c.806C>T	c.(805-807)cCg>cTg	p.P269L	FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAACTCCGCGGCCTGCAGTG	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17659	0.0		0.0	False		,,,				2504	0.0					ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(556-558)cCg>cTg		family with sequence similarity 13, member C		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	41.0	39.0	40.0		806,557,557,806	6.0	1.0	10	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign,benign,benign	269/488,186/503,186/502,269/586	61028449	7,12999	2203	4300	6503	SO:0001583	missense	220965							g.chr10:61028449G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.806C>T	10.37:g.61028449G>A	ENSP00000362975:p.Pro269Leu					FAM13C_ENST00000373868.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L	p.P186L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			9	1022	-			269					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.557C>T	CCDS7255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.53	2.563159	0.45694	0.001589	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96	6.04	6.04	0.98038	.	0.142017	0.49916	N	0.000133	T	0.77618	0.4157	L	0.39147	1.195	0.80722	D	1	P;B;B;D;B	0.67145	0.487;0.018;0.296;0.996;0.347	B;B;B;P;B	0.53861	0.13;0.018;0.087;0.736;0.083	T	0.72347	-0.4321	10	0.27082	T	0.32	-3.6719	20.5891	0.99427	0.0:0.0:1.0:0.0	.	269;186;269;269;269	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	186;269;290;290;269;186;269;269;47	ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L	ENSP00000277705:P290L	P	-	2	0	FAM13C	60698455	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.913000	0.56394	2.876000	0.98609	0.650000	0.86243	CCG		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			50	181	0	0	0	1	0	50	181				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		8	168	0	0	0	1	0	8	168				
BMP3	651	broad.mit.edu	37	4	81967241	81967241	+	Silent	SNP	G	G	A	rs370315521		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTAACATTACGTCCAAGGGAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20604	0.0		0.001	False		,,,				2504	0.0					ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(664-666)acG>acA		bone morphogenetic protein 3		G		0,4406		0,0,2203	117.0	125.0	122.0		666	-2.1	0.2	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP3	NM_001201.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		222/473	81967241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967241G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.666G>A	4.37:g.81967241G>A							p.T222T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	986	+			222		T -> M (in dbSNP:rs34505126).			Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.666G>A	CCDS3588.1																																																																																				0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			13	622	0	0	0	1	0	13	622				
C15orf59	388135	broad.mit.edu	37	15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(832-834)aCg>aTg		chromosome 15 open reading frame 59							101.0	108.0	106.0					15																	74032307		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032307G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.833C>T	15.37:g.74032307G>A	ENSP00000457205:p.Thr278Met					C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR	p.T278M			Q2T9L4	CO059_HUMAN			3	2037	-			278						Missense_Mutation	SNP	ENST00000569673.1	37	c.833C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338827	0.81911	.	.	ENSG00000205363	ENST00000379822	T	0.68903	-0.36	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	278	Q2T9L4	CO059_HUMAN	M	278	ENSP00000369150:T278M	ENSP00000369150:T278M	T	-	2	0	C15orf59	71819360	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.060000	0.93907	2.354000	0.79902	0.561000	0.74099	ACG		0.592	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		7	875	0	0	0	1	0	7	875				
TTI1	9675	broad.mit.edu	37	20	36640671	36640671	+	Silent	SNP	C	C	T	rs544143684		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:36640671C>T	ENST00000373448.2	-	3	1786	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	TTI1_ENST00000373447.3_Silent_p.V516V|TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	516					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.V516V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCGGTAAACCACAGATTGAT	0.423																																						ENST00000373448.2																			1	Substitution - coding silent(1)	p.V516V(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1546-1548)gtG>gtA		TELO2 interacting protein 1							52.0	55.0	54.0					20																	36640671		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640671C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1548G>A	20.37:g.36640671C>T						TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.V516V	p.V516V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1786	-			516					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1548G>A	CCDS13300.1																																																																																				0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		66	200	0	0	0	1	0	66	200				
FOXP2	93986	broad.mit.edu	37	7	114294032	114294032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:114294032C>T	ENST00000393494.2	+	10	1513	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393500.3_Nonsense_Mutation_p.R337*|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*			O15409	FOXP2_HUMAN	forkhead box P2	412					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTTGCACATGCGACCCTCAGA	0.398																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1009-1011)Cga>Tga		forkhead box P2							186.0	172.0	176.0					7																	114294032		2203	4300	6503	SO:0001587	stop_gained	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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.chr7:114294032C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1234C>T	7.37:g.114294032C>T	ENSP00000377132:p.Arg412*					FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*	p.R337*			O15409	FOXP2_HUMAN			16	1829	+			412					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.1009C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346324	0.95807	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	337;412;437;429;412;389;320;412;436;320	.	ENSP00000265436:R412X	R	+	1	2	FOXP2	114081268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.793000	0.55484	2.937000	0.99478	0.650000	0.86243	CGA		0.398	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	932	0	0	0	1	0	6	932				
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A993A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTGGAAATGCGCCACTGTGA	0.502																																						ENST00000344836.4																			1	Substitution - coding silent(1)	p.A993A(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2977-2979)gcG>gcA		ubiquitin specific peptidase 7 (herpes virus-associated)							266.0	247.0	254.0					16																	8988948		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988948C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2979G>A	16.37:g.8988948C>T						USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	p.A993A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3177	-			993					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2979G>A	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			7	1247	0	0	0	1	0	7	1247				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	507	0	0	0	1	0	5	507				
CSMD1	64478	broad.mit.edu	37	8	2820823	2820823	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000520002.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GCTGGTAACCGTCCATGCAGC	0.562																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(9376-9378)gaC>gaT		CUB and Sushi multiple domains 1							107.0	116.0	113.0					8																	2820823		1971	4163	6134	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820823G>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.9378C>T	8.37:g.2820823G>A						CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000602557.1_Silent_p.D3126D	p.D3126D			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)	61	9933	-		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)	3126			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9378C>T		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004364	0.02112	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-2.77	0.05877	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	0.4751	0.00538	0.3679:0.2388:0.1773:0.216	.	.	.	.	W	2543	.	.	R	-	1	2	CSMD1	2808230	0.000000	0.05858	0.047000	0.18901	0.110000	0.19582	-1.200000	0.03029	-0.162000	0.10964	-0.136000	0.14681	CGG		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	585	0	0	0	1	0	5	585				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			10	214	0	0	0	1	0	10	214				
PCDHGA10	56106	broad.mit.edu	37	5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	638	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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.701																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1912-1914)gAc>gGc									49.0	59.0	56.0					5																	140794655		2203	4295	6498	SO:0001583	missense	0							g.chr5:140794655A>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1913A>G	5.37:g.140794655A>G	ENSP00000381611:p.Asp638Gly					PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.D638G	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1913	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1913A>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	a	17.83	3.486542	0.63962	.	.	ENSG00000253846	ENST00000398610	T	0.65178	-0.14	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75882	0.3910	M	0.64404	1.975	0.31302	N	0.688228	D;D	0.59767	0.973;0.986	P;D	0.65573	0.786;0.936	T	0.78705	-0.2100	9	0.72032	D	0.01	.	15.1502	0.72692	1.0:0.0:0.0:0.0	.	638;638	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	G	638	ENSP00000381611:D638G	ENSP00000381611:D638G	D	+	2	0	PCDHGA10	140774839	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.721000	0.61951	2.061000	0.61500	0.454000	0.30748	GAC		0.701	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		55	410	0	0	0	1	0	55	410				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		15	2441	0	0	0	1	0	15	2441				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	416	0	0	0	1	0	6	416				
CCDC87	55231	broad.mit.edu	37	11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	rs201943750		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2128-2130)Cgc>Tgc		coiled-coil domain containing 87		G	CYS/ARG	0,4400		0,0,2200	57.0	62.0	60.0		2128	4.1	0.3	11		60	4,8584		0,4,4290	yes	missense	CCDC87	NM_018219.2	180	0,4,6490	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	710/850	66358359	4,12984	2200	4294	6494	SO:0001583	missense	55231							g.chr11:66358359G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2128C>T	11.37:g.66358359G>A	ENSP00000328487:p.Arg710Cys						p.R710C	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2195	-			710					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2128C>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929265	0.34096	0.0	4.66E-4	ENSG00000182791	ENST00000333861	T	0.34072	1.38	5.07	4.14	0.48551	.	0.000000	0.43919	D	0.000515	T	0.55673	0.1935	M	0.70595	2.14	0.38943	D	0.958188	D	0.89917	1.0	D	0.70935	0.971	T	0.61113	-0.7128	10	0.56958	D	0.05	-9.6332	11.2898	0.49244	0.0:0.1836:0.8164:0.0	.	710	Q9NVE4	CCD87_HUMAN	C	710	ENSP00000328487:R710C	ENSP00000328487:R710C	R	-	1	0	CCDC87	66114935	0.866000	0.29940	0.252000	0.24328	0.123000	0.20343	1.200000	0.32247	1.327000	0.45338	0.561000	0.74099	CGC		0.557	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		6	552	0	0	0	1	0	6	552				
CTC1	80169	broad.mit.edu	37	17	8138120	8138120	+	Missense_Mutation	SNP	G	G	A	rs199698527		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:8138120G>A	ENST00000315684.8	-	9	1571	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	522					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGTGCATTCCGAACAGGGCTG	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19263	0.0		0.0	False		,,,				2504	0.0					ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1564-1566)Cgg>Tgg		CTS telomere maintenance complex component 1			TRP/ARG	9,3983		0,9,1987	98.0	100.0	99.0		1564	5.2	0.1	17		99	0,8312		0,0,4156	yes	missense	CTC1	NM_025099.5	101	0,9,6143	AA,AG,GG		0.0,0.2255,0.0731	probably-damaging	522/1218	8138120	9,12295	1996	4156	6152	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138120G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1564C>T	17.37:g.8138120G>A	ENSP00000313759:p.Arg522Trp						p.R522W	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			9	1571	-			522					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1564C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753873	0.31046	0.002255	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.91792	-2.91;-2.91	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.71581	2.175	0.43494	D	0.995737	D	0.89917	1.0	D	0.91635	0.999	D	0.95629	0.8688	10	0.87932	D	0	-22.3791	14.2593	0.66073	0.0:0.0:1.0:0.0	.	522	Q2NKJ3	CTC1_HUMAN	W	522;487	ENSP00000313759:R522W;ENSP00000396018:R487W	ENSP00000313759:R522W	R	-	1	2	CTC1	8078845	0.730000	0.28100	0.130000	0.21974	0.123000	0.20343	1.428000	0.34892	2.459000	0.83118	0.598000	0.82781	CGG		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		6	441	0	0	0	1	0	6	441				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	112	0	0	0	1	0	4	112				
DNAH2	146754	broad.mit.edu	37	17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTCTTCGAGGCAACGAGCC	0.502																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9403-9405)Ggc>Cgc		dynein, axonemal, heavy chain 2							97.0	93.0	94.0					17																	7708672		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708672G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9403G>C	17.37:g.7708672G>C	ENSP00000458355:p.Gly3135Arg					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R	p.G3135R			Q9P225	DYH2_HUMAN			61	10863	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3135			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9403G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014629	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.83163	-1.69	5.62	5.62	0.85841	Dynein heavy chain, coiled coil stalk (1);	0.056220	0.64402	D	0.000001	D	0.86104	0.5853	M	0.83774	2.66	0.80722	D	1	B;B	0.32324	0.314;0.364	B;B	0.35240	0.198;0.188	D	0.85682	0.1301	10	0.51188	T	0.08	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	3096;3135	Q9P225-2;Q9P225	.;DYH2_HUMAN	R	3096;3135	ENSP00000373825:G3135R	ENSP00000353818:G3096R	G	+	1	0	DNAH2	7649397	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.688000	0.74557	2.652000	0.90054	0.655000	0.94253	GGC		0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		62	230	0	0	0	1	0	62	230				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	372	0	0	0	1	0	5	372				
C9orf24	84688	broad.mit.edu	37	9	34381380	34381380	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	153					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGGCATTGAGCCGCTCCGGCC	0.612																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(457-459)cgG>cgA		chromosome 9 open reading frame 24							148.0	131.0	137.0					9																	34381380		2203	4300	6503	SO:0001819	synonymous_variant	84688							g.chr9:34381380C>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.459G>A	9.37:g.34381380C>T						C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	p.R153R	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	657	-			153					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.459G>A	CCDS6554.1																																																																																				0.612	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		5	554	0	0	0	1	0	5	554				
MELK	9833	broad.mit.edu	37	9	36589550	36589550	+	Silent	SNP	C	C	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:36589550C>A	ENST00000298048.2	+	4	346	c.162C>A	c.(160-162)atC>atA	p.I54I	MELK_ENST00000538311.1_5'UTR|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000541717.1_Silent_p.I54I|MELK_ENST00000536329.1_Intron|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000543751.1_Silent_p.I22I|MELK_ENST00000536860.1_Silent_p.I54I|MELK_ENST00000545008.1_Silent_p.I54I	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCCCCGGATCAAAACGGAGA	0.403																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(64-66)atC>atA		maternal embryonic leucine zipper kinase							172.0	156.0	161.0					9																	36589550		2203	4300	6503	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36589550C>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.162C>A	9.37:g.36589550C>A						MELK_ENST00000298048.2_Silent_p.I54I|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Silent_p.I54I|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000545008.1_Silent_p.I54I|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000541717.1_Silent_p.I54I	p.I22I	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	211	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	54			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.66C>A	CCDS6606.1																																																																																				0.403	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		6	493	1	0	4.096e-09	1	4.32932e-09	6	493				
UBC	7316	broad.mit.edu	37	12	125397946	125397946	+	Silent	SNP	C	C	T	rs577374084	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:125397946C>T	ENST00000538617.1	-	3	688	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000536769.1_Silent_p.K124K|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.K124K			P0CG48	UBC_HUMAN	ubiquitin C	504	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.K124K(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTCCAGCTGCTTTCCGGCAA	0.542													-|||	3	0.000599042	0.0	0.0	5008	,	,		28580	0.0		0.0	False		,,,				2504	0.0031					ENST00000536769.1																			1	Substitution - coding silent(1)	p.K124K(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(370-372)aaG>aaA		ubiquitin C							145.0	138.0	140.0					12																	125397946		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397946C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.372G>A	12.37:g.125397946C>T						UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K	p.K124K			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1948	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.372G>A																																																																																					0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		7	912	0	0	0	1	0	7	912				
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	259	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(775-777)agA>agG		suprabasin							56.0	57.0	57.0					19																	36018407		692	1591	2283	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018407T>C	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.777A>G	19.37:g.36018407T>C						SBSN_ENST00000518157.1_Intron	p.R259R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	805	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		132					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.777A>G	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		6	23	0	0	0	1	0	6	23				
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000354599.6_Silent_p.K448K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168.0	171.0	170.0					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000528796.1_Intron	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	725	0	0	0	1	0	6	725				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		10	233	0	0	0	1	0	10	233				
HMGB3	3149	broad.mit.edu	37	X	150156378	150156378	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49.0	48.0	49.0					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp					HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	593	1	0	5.9392e-07	1	6.16054e-07	5	593				
MOSPD3	64598	broad.mit.edu	37	7	100211247	100211247	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCTTGAGCTTCAGGGAC	0.637																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(427-429)gaG>gaA		motile sperm domain containing 3							57.0	54.0	55.0					7																	100211247		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100211247G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.429G>A	7.37:g.100211247G>A						MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000223054.4_Silent_p.E143E	p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			3	711	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		143			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.429G>A	CCDS5701.1																																																																																				0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		20	291	0	0	0	1	0	20	291				
C4orf50	389197	broad.mit.edu	37	4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000324058.5	-	5	532	c.443C>T	c.(442-444)aCg>aTg	p.T148M	C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1864-1866)aCg>aTg		chromosome 4 open reading frame 50							147.0	128.0	135.0					4																	5969155		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5969155G>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.443C>T	4.37:g.5969155G>A	ENSP00000317287:p.Thr148Met					C4orf50_ENST00000324058.5_Missense_Mutation_p.T148M	p.T622M			Q6ZRC1	CD050_HUMAN			5	1911	-			148						Missense_Mutation	SNP	ENST00000324058.5	37	c.1865C>T		.	.	.	.	.	.	.	.	.	.	G	13.64	2.296676	0.40594	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27720	1.65;1.65	2.99	2.99	0.34606	.	0.665167	0.13125	N	0.411927	T	0.47340	0.1440	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.17289	-1.0374	10	0.72032	D	0.01	-2.3166	9.7214	0.40306	0.0:0.0:1.0:0.0	.	148	Q6ZRC1	CD050_HUMAN	M	622;148	ENSP00000437121:T622M;ENSP00000317287:T148M	ENSP00000317287:T148M	T	-	2	0	C4orf50	6020056	0.002000	0.14202	0.003000	0.11579	0.140000	0.21249	1.108000	0.31123	1.992000	0.58205	0.655000	0.94253	ACG		0.532	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		12	458	0	0	0	1	0	12	458				
KIRREL	55243	broad.mit.edu	37	1	158063228	158063228	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:158063228G>A	ENST00000359209.6	+	12	1638	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R338H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	524					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)					TACCGGCGCCGCAAAGGCAGT	0.607																																						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.(1012-1014)cGc>cAc		kin of IRRE like (Drosophila)							113.0	111.0	112.0					1																	158063228		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063228G>A	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.1571G>A	1.37:g.158063228G>A	ENSP00000352138:p.Arg524His					KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000359209.6_Missense_Mutation_p.R524H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H	p.R338H			Q96J84	KIRR1_HUMAN			8	1025	+	all_hematologic(112;0.0378)		524			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1013G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549450	0.86127	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71698	0.36;-0.59;0.02;-0.23;-0.12;0.22	5.61	4.67	0.58626	.	0.000000	0.43260	D	0.000589	T	0.71333	0.3327	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.964;0.998;0.996;0.996	T	0.74999	-0.3472	10	0.52906	T	0.07	-22.3545	14.06	0.64793	0.0:0.1523:0.8477:0.0	.	424;360;338;524	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	360;540;421;524;424;338	ENSP00000353202:R360H;ENSP00000357155:R540H;ENSP00000376098:R421H;ENSP00000352138:R524H;ENSP00000389674:R424H;ENSP00000357154:R338H	ENSP00000352138:R524H	R	+	2	0	KIRREL	156329852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.163000	0.94750	1.303000	0.44873	0.491000	0.48974	CGC		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		5	348	0	0	0	1	0	5	348				
CELF5	60680	broad.mit.edu	37	19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542																																						ENST00000292672.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(1237-1239)gAc>gGc		CUGBP, Elav-like family member 5							99.0	87.0	91.0					19																	3290280		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3290280A>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1238A>G	19.37:g.3290280A>G	ENSP00000292672:p.Asp413Gly					CELF5_ENST00000541430.2_Silent_p.R374R	p.D413G	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN			11	1275	+			413			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.1238A>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355769	0.82243	.	.	ENSG00000161082	ENST00000292672	T	0.17370	2.28	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52419	-0.8578	10	0.87932	D	0	-20.3383	12.6476	0.56744	1.0:0.0:0.0:0.0	.	413	Q8N6W0	CELF5_HUMAN	G	413	ENSP00000292672:D413G	ENSP00000292672:D413G	D	+	2	0	CELF5	3241280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	1.731000	0.51592	0.443000	0.29094	GAC		0.542	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		4	297	0	0	0	1	0	4	297				
MTUS2	23281	broad.mit.edu	37	13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAAAGTGGCCGCTCAGAAGC	0.502																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1507-1509)Cgc>Tgc		microtubule associated tumor suppressor candidate 2							79.0	84.0	83.0					13																	29600312		1973	4142	6115	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600312C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1507C>T	13.37:g.29600312C>T	ENSP00000392057:p.Arg503Cys						p.R503C	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1565	+			493					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1507C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130528	0.37630	.	.	ENSG00000132938	ENST00000431530	T	0.12039	2.72	5.92	-8.99	0.00751	.	1.333950	0.04700	N	0.415575	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	9	.	.	.	.	5.915	0.19050	0.1411:0.5246:0.2381:0.0962	.	493	Q5JR59	MTUS2_HUMAN	C	503	ENSP00000392057:R503C	.	R	+	1	0	MTUS2	28498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.104000	0.10923	-0.703000	0.05049	-1.283000	0.01379	CGC		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		40	154	0	0	0	1	0	40	154				
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:155887399T>G	ENST00000368321.3	-	11	1354	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q444P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.						RNA binding (GO:0003723)	p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562																																						ENST00000368320.3																			1	Substitution - Missense(1)	p.Q444P(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1330-1332)cAg>cCg		KIAA0907							10.0	13.0	12.0					1																	155887399		2180	4260	6440	SO:0001583	missense	22889							g.chr1:155887399T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1331A>C	1.37:g.155887399T>G	ENSP00000357304:p.Gln444Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P	p.Q444P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1356	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		444			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1331A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164445	0.38217	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.27402	1.67;1.67	5.49	4.36	0.52297	.	0.380168	0.30464	N	0.009568	T	0.18215	0.0437	N	0.19112	0.55	0.44789	D	0.997794	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.05209	-1.0899	10	0.06494	T	0.89	-0.2991	11.4897	0.50373	0.0:0.0:0.1502:0.8498	.	444;444	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	444	ENSP00000357304:Q444P;ENSP00000357303:Q444P	ENSP00000357303:Q444P	Q	-	2	0	KIAA0907	154154023	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.594000	0.24014	0.999000	0.39023	0.533000	0.62120	CAG		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		11	91	0	0	0	1	0	11	91				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		109	240	1	0	3.99156e-37	1	4.44393e-37	109	240				
AKR7L	246181	broad.mit.edu	37	1	19596091	19596091	+	RNA	SNP	T	T	A	rs146198474	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:19596091T>A	ENST00000429712.1	-	0	709				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						CAGAGGGTTGTAGGCATAGAA	0.607													.|||	21	0.00419329	0.0129	0.0043	5008	,	,		17220	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88.0	88.0	88.0					1																	19596091		692	1591	2283			246181							g.chr1:19596091T>A			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.19596091T>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37			9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	T	14.53	2.562614	0.45694	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.88	-0.262	0.12958	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	.	.	.	0.80722	D	1	P	0.35807	0.522	B	0.40982	0.345	T	0.10847	-1.0612	8	0.41790	T	0.15	.	6.0511	0.19787	0.2071:0.0:0.1242:0.6688	.	197	Q8NHP1	ARK74_HUMAN	F	197;162	.	ENSP00000373538:Y162F	Y	-	2	0	AKR7L	19468678	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	0.522000	0.22909	-0.159000	0.11021	0.254000	0.18369	TAC		0.607	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	192	0	0	0	1	0	4	192				
HCRTR2	3062	broad.mit.edu	37	6	55039393	55039393	+	Missense_Mutation	SNP	G	G	A	rs201743993		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:55039393G>A	ENST00000370862.3	+	1	344	c.8G>A	c.(7-9)gGc>gAc	p.G3D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	3					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGATGTCCGGCACCAAATTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15589	0.0		0.0	False		,,,				2504	0.0					ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(7-9)gGc>gAc		hypocretin (orexin) receptor 2							85.0	81.0	83.0					6																	55039393		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039393G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.8G>A	6.37:g.55039393G>A	ENSP00000359899:p.Gly3Asp						p.G3D	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	344	+	Lung NSC(77;0.107)|Renal(3;0.122)		3					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.8G>A	CCDS4956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.10	3.026954	0.54683	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	4.99	4.99	0.66335	.	0.057491	0.64402	D	0.000002	T	0.35740	0.0942	L	0.47716	1.5	0.42876	D	0.994151	P	0.41313	0.745	B	0.31290	0.127	T	0.51076	-0.8751	10	0.72032	D	0.01	.	14.9164	0.70801	0.0:0.1435:0.8565:0.0	.	3	O43614	OX2R_HUMAN	D	3	ENSP00000359899:G3D	ENSP00000359899:G3D	G	+	2	0	HCRTR2	55147352	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.046000	0.49846	2.599000	0.87857	0.563000	0.77884	GGC		0.577	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			5	416	0	0	0	1	0	5	416				
FMNL3	91010	broad.mit.edu	37	12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:50047068G>A	ENST00000293590.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000335154.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W			Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1264-1266)Cgg>Tgg		formin-like 3							180.0	183.0	182.0					12																	50047068		1987	4166	6153	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50047068G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1264C>T	12.37:g.50047068G>A	ENSP00000293590:p.Arg422Trp					FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R422W	p.R422W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			13	1497	-			422			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1264C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267087	0.80469	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.58	3.58	0.41010	.	0.113971	0.56097	D	0.000029	T	0.49081	0.1536	M	0.63843	1.955	0.46437	D	0.999047	D;D	0.89917	0.987;1.0	P;D	0.70016	0.534;0.967	T	0.52208	-0.8606	10	0.87932	D	0	.	11.3304	0.49473	0.0:0.1371:0.7209:0.142	.	371;422	Q8IVF7-2;Q8IVF7-3	.;.	W	422;422;371;422	ENSP00000335655:R422W;ENSP00000447479:R422W;ENSP00000344311:R371W;ENSP00000293590:R422W	ENSP00000293590:R422W	R	-	1	2	FMNL3	48333335	0.345000	0.24835	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.455000	0.47813	0.655000	0.94253	CGG		0.542	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		6	865	0	0	0	1	0	6	865				
ELOVL4	6785	broad.mit.edu	37	6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATCTGAAAAGGTTCTCGGTC	0.393																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(214-216)cCt>cAt		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						89.0	77.0	81.0					6																	80635984		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80635984G>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.215C>A	6.37:g.80635984G>T	ENSP00000358831:p.Pro72His						p.P72H	NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	2	515	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	72					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.215C>A	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983967	0.93044	.	.	ENSG00000118402	ENST00000369816	T	0.26810	1.71	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	-9.8818	19.1531	0.93496	0.0:0.0:1.0:0.0	.	72	Q9GZR5	ELOV4_HUMAN	H	72	ENSP00000358831:P72H	ENSP00000358831:P72H	P	-	2	0	ELOVL4	80692703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	CCT		0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			77	267	1	0	1.39159e-27	1	1.53904e-27	77	267				
TFDP1	7027	broad.mit.edu	37	13	114265370	114265370	+	Silent	SNP	C	C	T	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(70-72)ccC>ccT		transcription factor Dp-1		C		1,4405	2.1+/-5.4	0,1,2202	155.0	145.0	148.0		72	1.7	1.0	13	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		24/411	114265370	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114265370C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.72C>T	13.37:g.114265370C>T		TSP Lung(29;0.18)				TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000538138.1_5'UTR	p.P24P	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		3	284	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	24					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.72C>T	CCDS9538.1																																																																																				0.443	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		110	357	0	0	0	1	0	110	357				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			22	181	0	0	0	1	0	22	181				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	252	0	0	0	1	0	5	252				
HERC6	55008	broad.mit.edu	37	4	89334269	89334269	+	Missense_Mutation	SNP	C	C	A	rs528652638		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:89334269C>A	ENST00000264346.7	+	12	1468	c.1409C>A	c.(1408-1410)cCa>cAa	p.P470Q	HERC6_ENST00000380265.5_Missense_Mutation_p.P470Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	470					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAGCTCTTCCATGCCATTCT	0.448																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1408-1410)cCa>cAa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							248.0	241.0	243.0					4																	89334269		1958	4178	6136	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334269C>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1409C>A	4.37:g.89334269C>A	ENSP00000264346:p.Pro470Gln					HERC6_ENST00000264346.7_Missense_Mutation_p.P470Q	p.P470Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1592	+		Hepatocellular(203;0.114)	470					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1409C>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271412	0.80469	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.16	4.76	2.94	0.34122	.	0.433846	0.21414	N	0.074931	T	0.49047	0.1534	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65987	0.94;0.873	T	0.45804	-0.9236	10	0.19147	T	0.46	.	6.9105	0.24333	0.1722:0.7356:0.0:0.0922	.	470;470	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	470	ENSP00000369617:P470Q;ENSP00000264346:P470Q	ENSP00000264346:P470Q	P	+	2	0	HERC6	89553292	0.942000	0.31987	0.621000	0.29145	0.856000	0.48823	2.288000	0.43514	1.214000	0.43395	0.585000	0.79938	CCA		0.448	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			7	1040	1	0	0.248553	1	0.248553	7	1040				
DNAH2	146754	broad.mit.edu	37	17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGTGGAGATAGTGATGC	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9370-9372)gaG>gaC		dynein, axonemal, heavy chain 2							110.0	106.0	107.0					17																	7708641		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708641G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9372G>C	17.37:g.7708641G>C	ENSP00000458355:p.Glu3124Asp					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D	p.E3124D			Q9P225	DYH2_HUMAN			61	10832	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3124			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9372G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918069	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.62	2.09	0.27110	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.43757	1.38	0.80722	D	1	P;P	0.40660	0.48;0.726	B;P	0.51297	0.413;0.665	T	0.42155	-0.9468	10	0.25751	T	0.34	.	10.78	0.46371	0.2594:0.0:0.7406:0.0	.	3085;3124	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3085;3124	ENSP00000373825:E3124D	ENSP00000353818:E3085D	E	+	3	2	DNAH2	7649366	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.613000	0.36900	0.724000	0.32296	0.655000	0.94253	GAG		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		81	251	0	0	0	1	0	81	251				
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A	rs370636108		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(700-702)cGc>cAc		olfactory receptor, family 2, subfamily G, member 6		G	HIS/ARG	0,4406		0,0,2203	101.0	104.0	103.0		701	2.9	0.0	1		103	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	234/317	248685648	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685648G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.701G>A	1.37:g.248685648G>A	ENSP00000341291:p.Arg234His						p.R234H	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	733	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	234					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.701G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.596315	0.28445	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00333	8.07	3.83	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	U	0.000372	T	0.00875	0.0029	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.19128	-1.0315	10	0.87932	D	0	.	10.4637	0.44594	0.1003:0.0:0.8997:0.0	.	234	Q5TZ20	OR2G6_HUMAN	H	234	ENSP00000341291:R234H	ENSP00000341291:R234H	R	+	2	0	OR2G6	246752271	0.012000	0.17670	0.001000	0.08648	0.108000	0.19459	1.615000	0.36922	0.810000	0.34279	0.400000	0.26472	CGC		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5	543	0	0	0	1	0	5	543				
SMARCAD1	56916	broad.mit.edu	37	4	95198287	95198287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:95198287C>T	ENST00000354268.4	+	16	2132	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	687					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGTGAAATACGAAGAATGTT	0.378																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2059-2061)Cga>Tga		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							171.0	166.0	168.0					4																	95198287		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198287C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2059C>T	4.37:g.95198287C>T	ENSP00000346217:p.Arg687*					SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*	p.R687*			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2132	+			687					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2059C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495917	0.97612	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.52	4.6	0.57074	.	0.000000	0.38381	N	0.001702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.8402	15.1831	0.72975	0.2325:0.7675:0.0:0.0	.	.	.	.	X	687;687;687;257	.	ENSP00000346217:R687X	R	+	1	2	SMARCAD1	95417310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.153000	0.42282	2.604000	0.88044	0.555000	0.69702	CGA		0.378	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		5	735	0	0	0	1	0	5	735				
CLTCL1	8218	broad.mit.edu	37	22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAGATTTTAGCCAGTGCATT	0.547			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2638-2640)gCt>gAt		clathrin, heavy chain-like 1							32.0	32.0	32.0					22																	19209057		2080	4247	6327	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209057G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2639C>A	22.37:g.19209057G>T	ENSP00000445677:p.Ala880Asp					CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D	p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			17	2711	-	Colorectal(54;0.0993)		880			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2639C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083901	0.55861	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23552	1.9;1.9;1.9	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.072624	0.53938	D	0.000042	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-3.9812	15.456	0.75314	0.0:0.0:1.0:0.0	.	880;880	P53675-2;P53675	.;CLH2_HUMAN	D	880	ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D	ENSP00000445677:A880D	A	-	2	0	CLTCL1	17589057	1.000000	0.71417	0.968000	0.41197	0.008000	0.06430	8.761000	0.91691	1.880000	0.54463	0.462000	0.41574	GCT		0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		14	60	1	0	1.49906e-05	1	1.53585e-05	14	60				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	156	0	0	0	1	0	5	156				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		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)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	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.chr11:115080343G>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.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	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)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		8	298	1	0	1.76689e-08	1	1.85579e-08	8	298				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			20	192	0	0	0	1	0	20	192				
MUC17	140453	broad.mit.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275.0	283.0	280.0					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	771	0	0	0	1	0	8	771				
EVPL	2125	broad.mit.edu	37	17	74017594	74017594	+	Silent	SNP	A	A	G	rs193119748	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:74017594A>G	ENST00000301607.3	-	9	1219	c.966T>C	c.(964-966)tgT>tgC	p.C322C	EVPL_ENST00000586740.1_Silent_p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	322	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGCAGATACACAGGTTCA	0.721																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(964-966)tgT>tgC		envoplakin							29.0	26.0	27.0					17																	74017594		2202	4299	6501	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017594A>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.966T>C	17.37:g.74017594A>G						EVPL_ENST00000586740.1_Silent_p.C322C	p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			9	1219	-			322			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.966T>C	CCDS11737.1																																																																																				0.721	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	63	0	0	0	1	0	4	63				
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000260126.4	-	2	1516	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A270A(1)		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)			TGAGAATCTGCGCGCAAATGA	0.502																																						ENST00000260126.3																			1	Substitution - coding silent(1)	p.A270A(1)	lung(1)	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.(808-810)gcG>gcA		solute carrier organic anion transporter family, member 5A1							104.0	105.0	105.0					8																	70744099		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744099C>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.810G>A	8.37:g.70744099C>T						SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A	p.A270A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1516	-	Breast(64;0.0654)		270					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.810G>A	CCDS6205.1																																																																																				0.502	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		7	396	0	0	0	1	0	7	396				
TSKS	60385	broad.mit.edu	37	19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1582-1584)Cgg>Tgg		testis-specific serine kinase substrate							73.0	76.0	75.0					19																	50243356		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243356G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1582C>T	19.37:g.50243356G>A	ENSP00000246801:p.Arg528Trp					TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	p.R528W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	528					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1582C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454044	0.63290	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.49432	0.78;0.78	4.81	3.72	0.42706	.	0.287773	0.24566	N	0.037427	T	0.50309	0.1608	N	0.24115	0.695	0.32826	D	0.50336	D	0.89917	1.0	D	0.72338	0.977	T	0.59663	-0.7412	10	0.87932	D	0	-27.3869	9.3425	0.38089	0.0:0.0:0.7707:0.2293	.	528	Q9UJT2	TSKS_HUMAN	W	528;328	ENSP00000246801:R528W;ENSP00000351691:R328W	ENSP00000246801:R528W	R	-	1	2	TSKS	54935168	0.523000	0.26274	0.989000	0.46669	0.875000	0.50365	2.024000	0.41049	2.490000	0.84030	0.609000	0.83330	CGG		0.627	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		5	393	0	0	0	1	0	5	393				
BTBD11	121551	broad.mit.edu	37	12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAAATGGAATGGGAAAA	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1438-1440)Gaa>Aaa		BTB (POZ) domain containing 11							68.0	60.0	63.0					12																	107937864		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937864G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1438G>A	12.37:g.107937864G>A	ENSP00000280758:p.Glu480Lys					BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1966	+			480					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1438G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356457	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.74150	-0.3758	10	0.72032	D	0.01	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	480;480;480	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	480;480;480;111;114	ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K	ENSP00000280758:E480K	E	+	1	0	BTBD11	106461994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		40	194	0	0	0	1	0	40	194				
ITGB1BP1	9270	broad.mit.edu	37	2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000360635.3	-	7	1345	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	150	PID.			A -> V (in Ref. 4; AAH12264). {ECO:0000305}.	activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483																																						ENST00000360635.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(448-450)gCg>gTg		integrin beta 1 binding protein 1		G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	164.0	138.0	147.0		449,	5.6	1.0	2	dbSNP_123	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	ITGB1BP1	NM_004763.3,NM_022334.3	64,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,	150/201,	9547660	3,13003	2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9547660G>A	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.449C>T	2.37:g.9547660G>A	ENSP00000353850:p.Ala150Val					ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V	p.A150V			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	7	1345	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		150	A -> V (in Ref. 4; AAH12264).		PID.		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.449C>T	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278080	0.95459	4.54E-4	1.16E-4	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913	.	.	.	5.61	5.61	0.85477	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.944	P;P;P	0.55011	0.766;0.688;0.507	T	0.57159	-0.7859	9	0.36615	T	0.2	-23.8728	20.0086	0.97443	0.0:0.0:1.0:0.0	rs17850889	106;150;150	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	V	150	.	ENSP00000347504:A150V	A	-	2	0	ITGB1BP1	9465111	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.824000	0.75288	2.808000	0.96608	0.655000	0.94253	GCG		0.483	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		86	200	0	0	0	1	0	86	200				
BCL9	607	broad.mit.edu	37	1	147084715	147084715	+	Silent	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(85-87)cgT>cgC		B-cell CLL/lymphoma 9							87.0	90.0	89.0					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084715T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C						BCL9_ENST00000473292.1_3'UTR	p.R29R	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	827	+	all_hematologic(923;0.115)		29					Q5T489	Silent	SNP	ENST00000234739.3	37	c.87T>C	CCDS30833.1																																																																																				0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		5	346	0	0	0	1	0	5	346				
TENM1	10178	broad.mit.edu	37	X	123514928	123514928	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123514928C>T	ENST00000371130.3	-	31	7699	c.7636G>A	c.(7636-7638)Gat>Aat	p.D2546N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D2553N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2546					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)										CGCCTGCTATCTTCATTGGCT	0.433																																						ENST00000422452.2																			0											c.(7657-7659)Gat>Aat		teneurin transmembrane protein 1							75.0	71.0	73.0					X																	123514928		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514928C>T	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.7636G>A	X.37:g.123514928C>T	ENSP00000360171:p.Asp2546Asn					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D2546N	p.D2553N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7720	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7657G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266557	0.80358	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.93438	0.6791	10	0.56958	D	0.05	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2552;2553;2546	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2546;2553	ENSP00000360171:D2546N;ENSP00000403954:D2553N	ENSP00000360171:D2546N	D	-	1	0	ODZ1	123342609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.460000	0.83146	0.600000	0.82982	GAT		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		13	559	0	0	0	1	0	13	559				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		13	318	0	0	0	1	0	13	318				
DNAH2	146754	broad.mit.edu	37	17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAGATCTAGAAGAGGCACT	0.582																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9265-9267)Gaa>Caa		dynein, axonemal, heavy chain 2							67.0	73.0	71.0					17																	7708357		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708357G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9265G>C	17.37:g.7708357G>C	ENSP00000458355:p.Glu3089Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q	p.E3089Q			Q9P225	DYH2_HUMAN			60	10725	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3089			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9265G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782129	0.70222	.	.	ENSG00000183914	ENST00000389173	T	0.74209	-0.82	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.057608	0.64402	D	0.000002	T	0.71117	0.3302	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.39152	0.292	T	0.66221	-0.5978	10	0.24483	T	0.36	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3089	Q9P225	DYH2_HUMAN	Q	3089	ENSP00000373825:E3089Q	ENSP00000373825:E3089Q	E	+	1	0	DNAH2	7649082	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.930000	0.75858	2.541000	0.85698	0.591000	0.81541	GAA		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		94	288	0	0	0	1	0	94	288				
LOC643733	643733	broad.mit.edu	37	11	104774153	104774153	+	RNA	SNP	C	C	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:104774153C>A	ENST00000532510.1	-	0	3383																											TCATACACCACCAACAACTCT	0.403																																						ENST00000532510.1																			0																																																			0							g.chr11:104774153C>A																													11.37:g.104774153C>A														0	3383	-									RNA	SNP	ENST00000532510.1	37																																																																																						0.403	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			22	99	1	0	1.96895e-08	1	2.05509e-08	22	99				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	169	0	0	0	1	0	10	169				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	216	0	0	0	1	0	7	216				
TTN	7273	broad.mit.edu	37	2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000591111.1	-	294	90760	c.90536G>A	c.(90535-90537)gGc>gAc	p.G30179D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95458-95460)gGc>gAc		titin							195.0	186.0	189.0					2																	179410378		1960	4155	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410378C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90536G>A	2.37:g.179410378C>T	ENSP00000465570:p.Gly30179Asp					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30179D|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000586707.1_RNA	p.G31820D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		344	95683	-			30179			Fibronectin type-III 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95459G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.615238	0.66672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64034	0.2562	N	0.25957	0.775	0.53005	D	0.999965	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.58620	0.842;0.842;0.842;0.842	T	0.66787	-0.5835	9	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	22755;22880;22947;30179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	29252;22755;22947;22880;22752	ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D	ENSP00000340554:G22947D	G	-	2	0	TTN	179118624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.089000	0.71384	2.756000	0.94617	0.563000	0.77884	GGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	832	0	0	0	1	0	7	832				
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	370						7	370	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		13	440						13	440	---	---	---	---
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:100378028delA	ENST00000294724.4	+	29	4382	c.3904delA	c.(3904-3906)aaafs	p.K1303fs	AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1303					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTATCCAAAAAAAATAT	0.323																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3904-3906)aafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							88.0	93.0	91.0					1																	100378028		2203	4300	6503	SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100378028delA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3904delA	1.37:g.100378028delA	ENSP00000294724:p.Lys1303fs					AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs	p.K1303fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	29	4382	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1303					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Del	DEL	ENST00000294724.4	37	c.3904delA	CCDS759.1																																																																																				0.323	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	397						7	397	---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116206586	116206586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:116206586delT	ENST00000355485.2	+	4	780	c.509delT	c.(508-510)cttfs	p.L170fs	VANGL1_ENST00000310260.3_Frame_Shift_Del_p.L170fs|VANGL1_ENST00000369509.1_Frame_Shift_Del_p.L170fs|VANGL1_ENST00000369510.4_Frame_Shift_Del_p.L168fs	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	170					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.F171fs*93(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCTGGGCACTTTTTTTCCGC	0.493																																						ENST00000355485.2																			1	Deletion - Frameshift(1)	p.F171fs*93(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(508-510)ctfs		VANGL planar cell polarity protein 1							149.0	155.0	153.0					1																	116206586		2203	4300	6503	SO:0001589	frameshift_variant	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206586delT	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.509delT	1.37:g.116206586delT	ENSP00000347672:p.Leu170fs					VANGL1_ENST00000369509.1_Frame_Shift_Del_p.L170fs|VANGL1_ENST00000369510.3_Frame_Shift_Del_p.L168fs|VANGL1_ENST00000310260.3_Frame_Shift_Del_p.L170fs	p.L170fs	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	780	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	170					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Frame_Shift_Del	DEL	ENST00000355485.2	37	c.509delT	CCDS883.1																																																																																				0.493	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			7	777						7	777	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						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)		CACCTACAGGTTTTTTTGCCT	0.254																																						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.(280-282)aafs		sperm associated antigen 17							71.0	73.0	72.0					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		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.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	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)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	808						12	808	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			9	152						9	152	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			11	69						11	69	---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154523416	154523416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:154523416delT	ENST00000292211.4	-	12	1314	c.1235delA	c.(1234-1236)aacfs	p.N412fs	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCACCGTTTTTTTCGTG	0.522																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)acfs		ubiquitin-conjugating enzyme E2Q family member 1							214.0	203.0	207.0					1																	154523416		2203	4300	6503	SO:0001589	frameshift_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523416delT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1235delA	1.37:g.154523416delT	ENSP00000292211:p.Asn412fs						p.N412fs	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Frame_Shift_Del	DEL	ENST00000292211.4	37	c.1235delA	CCDS1069.1																																																																																				0.522	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		8	1169						8	1169	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:154842331_154842333delTGC	ENST00000271915.4	-	1	423_425	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgttgctgctgctgct	0.67																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(106-111)caa>ca		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842331_154842333delTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108_110delGCA	1.37:g.154842340_154842342delTGC	ENSP00000271915:p.Gln41del						p.QQ40del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	423_425	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		40			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.108_110delGCA	CCDS30880.1																																																																																				0.670	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	65						7	65	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	8	338						8	338	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		9	480						9	480	---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482718	54482719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:54482718_54482719insC	ENST00000317802.7	-	1	690_691	c.570_571insG	c.(568-573)gggcccfs	p.P191fs	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	191					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCGGGCCCGGGCCCAGGCCCTG	0.614																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(568-573)ggccggfs		TSPY-like 6																																				SO:0001589	frameshift_variant	388951				nucleosome assembly	nucleus		g.chr2:54482718_54482719insC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.571dupG	2.37:g.54482721_54482721dupC	ENSP00000417919:p.Pro191fs					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	p.R191fs	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	690_691	-			191					Q6NUJ3	Frame_Shift_Ins	INS	ENST00000317802.7	37	c.570_571insG	CCDS42682.1																																																																																				0.614	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		9	249						9	249	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	1116						7	1116	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2098-2100)aaafs		GRIP and coiled-coil domain containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs						p.K700fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2812_2813	+			700					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		18	1165						18	1165	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A	rs375647001	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	8	637						8	637	---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(877-879)acfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							63.0	64.0	64.0					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160604680delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs					MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	p.T293fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1001	+			293			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.879delT	CCDS2210.1																																																																																				0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		8	482						8	482	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		8	708						8	708	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		11	402						11	402	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		8	528						8	528	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103.0	111.0	109.0					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		7	835						7	835	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38162039	38162040	+	IGR	DEL	GA	GA	-	rs140494598		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:38162039_38162040delGA	ENST00000333167.8	-	0	1785				DLEC1_ENST00000308059.6_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|ACAA1_ENST00000480865.1_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGTGCGAGTGGAGAGAGAGAGA	0.579																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4804-4806)gfs		deleted in lung and esophageal cancer 1																																				SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38162039_38162040delGA	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38162049_38162050delGA						DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs	p.G1602fs			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	34	4826_4827	+			1602					G5E935|Q96CA6	Frame_Shift_Del	DEL	ENST00000333167.8	37	c.4805_4806delGA	CCDS2673.1																																																																																				0.579	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		7	279						7	279	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		11	253						11	253	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs571164794	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcacafs	p.T355fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	355					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)			CCCGCCTGCTCACACGTGCCCA	0.653														3	0.000599042	0.0015	0.0	5008	,	,		19095	0.0		0.001	False		,,,				2504	0.0					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.(1060-1065)ctcafs		cysteine-rich PAK1 inhibitor				8,4244		0,8,2118						-1.1	0.0			160	7,8229		0,7,4111	no	frameshift	CRIPAK	NM_175918.3		0,15,6229	A1A1,A1R,RR		0.085,0.1881,0.1201				15,12473				SO:0001589	frameshift_variant	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.chr4:1389361_1389362delCA	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.1062_1063delCA	4.37:g.1389363_1389364delCA	ENSP00000323978:p.Thr355fs						p.LT354fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4022_4023	+			354					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1062_1063delCA	CCDS3349.1																																																																																				0.653	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	1798						7	1798	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		13	421						13	421	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:146823381_146823383delGTG	ENST00000508784.1	-	2	1255_1257	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_In_Frame_Del_p.P343del			Q17R98	ZN827_HUMAN	zinc finger protein 827	343	Pro-rich.				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(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1027-1032)caa>c		zinc finger protein 827																																				SO:0001651	inframe_deletion	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823381_146823383delGTG	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1028_1030delCAC	4.37:g.146823390_146823392delGTG	ENSP00000421863:p.Pro343del					ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del|ZNF827_ENST00000513320.1_Intron	p.PQ343del			Q17R98	ZN827_HUMAN			2	1255_1257	-	all_hematologic(180;0.151)		343			Pro-rich.		B7ZL52|Q7Z4S7|Q8N279	In_Frame_Del	DEL	ENST00000508784.1	37	c.1028_1030delCAC																																																																																					0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		7	232						7	232	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		9	1463						9	1463	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180374632	180374633	+	Intron	DEL	GA	GA	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000511704.1_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		9	1720						9	1720	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		9	238						9	238	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		11	34						11	34	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	7	980						7	980	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	269						7	269	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs377514954|rs73692143	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										ATTTGTCAAGgtgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284886_38284887delGT	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284896_38284897delGT														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		8	284						8	284	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs149178316|rs563966650|rs147429736	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										gtgtgtgtgtctgagtgtgtctgt	0.392														166	0.033147	0.0083	0.0231	5008	,	,		17035	0.0784		0.0358	False		,,,				2504	0.0245					ENST00000436911.2																			0																																																			0							g.chr7:38284914_38284917delCTGA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284914_38284917delCTGA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.392	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		8	165						8	165	---	---	---	---
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84.0	94.0	90.0					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		7	883						7	883	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		17	68						17	68	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		7	95						7	95	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			10	248						10	248	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		9	251						9	251	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		8	242						8	242	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		15	427						15	427	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(121-129)del		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			7	217						7	217	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T	rs370698632		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.510	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		7	791						7	791	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-	rs372118289		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.640	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		11	248						11	248	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			1	Deletion - Frameshift(1)	p.V41fs*2(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(118-123)aatcctfs	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)			,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				SO:0001589	frameshift_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644546_21644547insT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs					RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs	p.NP40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	588_589	-			40					A8K6G2	Frame_Shift_Ins	INS	ENST00000444129.2	37	c.120_121insA	CCDS31756.1																																																																																				0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		13	598						13	598	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	687						10	687	---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49580272	49580274	+	Intron	DEL	GGA	GGA	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:49580272_49580274delGGA	ENST00000295766.5	-	3	706				TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000546918.1_In_Frame_Del_p.S116del|TUBA1A_ENST00000550767.1_Intron	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	ggagcaggggggaggaggaggag	0.621																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000546918.1																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(346-348)del		tubulin, alpha 1a																																				SO:0001627	intron_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580272_49580274delGGA	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.227-31TCC>-	12.37:g.49580281_49580283delGGA						TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000295766.5_Intron	p.S116del			Q71U36	TBA1A_HUMAN			2	432_434	-			0					A8K0B8|G3V1U9|P04687|P05209	In_Frame_Del	DEL	ENST00000295766.5	37	c.346_348delTCC	CCDS58227.1																																																																																				0.621	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		8	375						8	375	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)cttfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(85-87)ctfs		olfactory receptor, family 6, subfamily C, member 74							183.0	177.0	179.0					12																	55641157		2203	4300	6503	SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641157delT		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86delT	12.37:g.55641157delT	ENSP00000342836:p.Leu29fs						p.L29fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	176	+			29						Frame_Shift_Del	DEL	ENST00000343870.4	37	c.86delT	CCDS31816.1																																																																																				0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			7	737						7	737	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64491019	64491019	+	Splice_Site	DEL	A	A	-	rs79989081		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:64491019delA	ENST00000355086.3	+	15	2202		c.e15-1		SRGAP1_ENST00000543397.1_Splice_Site|SRGAP1_ENST00000357825.3_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1						axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.?(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTTTTTTTTTAGGTGAAAATC	0.348																																						ENST00000355086.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.e15-1		SLIT-ROBO Rho GTPase activating protein 1							43.0	45.0	44.0					12																	64491019		2203	4300	6503	SO:0001630	splice_region_variant	57522				axon guidance	cytosol		g.chr12:64491019delA	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1679-1A>-	12.37:g.64491019delA						SRGAP1_ENST00000357825.3_Splice_Site|SRGAP1_ENST00000543397.1_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA		NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2202	+								Q9H8A3|Q9P2P2	Splice_Site	DEL	ENST00000355086.3	37		CCDS8967.1																																																																																				0.348	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		Intron	11	390						11	390	---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11	GRCh37	CD035010	SYCP3	D		c.(643-645)ttfs		synaptonemal complex protein 3			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122901delT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs					SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			8	774	-			215			Gln-rich.			Frame_Shift_Del	DEL	ENST00000392927.3	37	c.643delA	CCDS9087.1																																																																																				0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		8	383						8	383	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					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)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						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.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	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.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			12	354						12	354	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000421670.3_De_novo_Start_InFrame|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|SNORA9_ENST00000384170.1_RNA	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			8	230						8	230	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					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)		ACGTCctgcagctgctgctgctg	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1468-1470)del		poly(A) binding protein, cytoplasmic 3																																				SO:0001651	inframe_deletion	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671804_25671806delGCT	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.1468_1470delGCT	13.37:g.25671813_25671815delGCT	ENSP00000281589:p.Ala496del						p.A496del	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1505_1507	+		Lung SC(185;0.0225)|Breast(139;0.0602)	496					Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	37	c.1468_1470delGCT	CCDS9311.1																																																																																				0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	330						9	330	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		7	246						7	246	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T	rs202177940		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086381_20086382insT																													14.37:g.20086382_20086382dupT														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	101						7	101	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64421491	64421491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:64421491delT	ENST00000344113.4	+	8	857	c.645delT	c.(643-645)gctfs	p.A215fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000356081.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000341472.5_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	215	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGGGATGGCTTTTTTGGCCA	0.388																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(643-645)gcfs		spectrin repeat containing, nuclear envelope 2							162.0	141.0	147.0					14																	64421491		1887	4123	6010	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421491delT	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.645delT	14.37:g.64421491delT	ENSP00000341781:p.Ala215fs					SYNE2_ENST00000356081.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000341472.5_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.A215fs	p.A215fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	875	+			215			Actin-binding.|CH 2.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.645delT	CCDS41963.1																																																																																				0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	539						7	539	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-	rs535011015		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2545-2547)ttfs		protein tyrosine phosphatase, non-receptor type 21							181.0	171.0	175.0					14																	88940113		2203	4300	6503	SO:0001589	frameshift_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940113delT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2545delA	14.37:g.88940113delT	ENSP00000452414:p.Ile849fs					PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2829	-			849						Frame_Shift_Del	DEL	ENST00000556564.1	37	c.2545delA	CCDS9884.1																																																																																				0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			13	553						13	553	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102304843	102304845	+	RNA	DEL	TCT	TCT	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:102304843_102304845delTCT	ENST00000561463.1	+	0	12889_12891									DNM1 pseudogene 47																		AAGGAGTTCATCTTCTCGGAGCT	0.586																																						ENST00000561463.1																			0																																																			0							g.chr15:102304843_102304845delTCT	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304846_102304848delTCT														0	12889_12891	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.586	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	115						8	115	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			0							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA														0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	114						8	114	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		10	1188						10	1188	---	---	---	---
AARS	16	broad.mit.edu	37	16	70301695	70301696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:70301695_70301696insT	ENST00000261772.8	-	9	1231_1232	c.1088_1089insA	c.(1087-1089)gagfs	p.E363fs	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCTTCTTCAGCTCAGGAAATGC	0.51											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1087-1089)gctfs		alanyl-tRNA synthetase	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301695_70301696insT	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1089dupA	16.37:g.70301696_70301696dupT	ENSP00000261772:p.Glu363fs		OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.A363fs	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1231_1232	-		Ovarian(137;0.0365)	363						Frame_Shift_Ins	INS	ENST00000261772.8	37	c.1088_1089insA	CCDS32474.1																																																																																				0.510	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		10	378						10	378	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	389						7	389	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	342						8	342	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			9	331						9	331	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					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)	p.I248L(1)|p.I248fs*1(1)		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)	AAATTCTTTTATTTTTTTTTCT	0.243																																						ENST00000392676.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I248L(1)|p.I248fs*1(1)	large_intestine(1)|lung(1)	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.(742-744)aaafs		ATP-binding cassette, sub-family A (ABC1), member 5																																				SO:0001589	frameshift_variant	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.chr17:67302911_67302912insT	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.743dupA	17.37:g.67302920_67302920dupT	ENSP00000376443:p.Ile248fs					ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs	p.K248fs			Q8WWZ7	ABCA5_HUMAN			6	806_807	-	Breast(10;3.72e-11)		248					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	c.742_743insA	CCDS11685.1																																																																																				0.243	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	214						7	214	---	---	---	---
RETN	56729	broad.mit.edu	37	19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	887						7	887	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		8	841						8	841	---	---	---	---
LINC00663	284440	broad.mit.edu	37	19	19879888	19879888	+	lincRNA	DEL	T	T	-	rs200643366|rs552172911	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:19879888delT	ENST00000590274.1	-	0	116																											aaaacattgattttttttttt	0.388																																						ENST00000590274.1																			0																																																			0							g.chr19:19879888delT																													19.37:g.19879888delT														0	116	-									RNA	DEL	ENST00000590274.1	37																																																																																						0.388	CTC-559E9.4-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000460784.1			2	4						2	4	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	82						7	82	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			9	544						9	544	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737670	48737670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:48737670delC	ENST00000359009.4	-	3	378	c.66delG	c.(64-66)gggfs	p.G22fs	CARD8_ENST00000521613.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Del_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Del_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Del_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CTGGGAATGTCCCCCCCAGAT	0.433																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)acfs		caspase recruitment domain family, member 8							155.0	130.0	139.0					19																	48737670		2203	4300	6503	SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737670delC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.66delG	19.37:g.48737670delC	ENSP00000351901:p.Gly22fs					CARD8_ENST00000359009.4_Frame_Shift_Del_p.G22fs|CARD8_ENST00000520153.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Del_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Del_p.D64fs	p.D114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Del	DEL	ENST00000359009.4	37	c.340delG																																																																																					0.433	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		8	438						8	438	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	200						7	200	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:58490593delT	ENST00000357552.3	-	9	751	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	176					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATAGCATTCATTTTTTTTATA	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(526-528)tgfs		synaptonemal complex protein 2							75.0	82.0	80.0					20																	58490593		2200	4289	6489	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58490593delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.526delA	20.37:g.58490593delT	ENSP00000350162:p.Met176fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs	p.M176fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	751	-	all_lung(29;0.00344)		176					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.526delA	CCDS13482.1																																																																																				0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	433						7	433	---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62221555	62221556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:62221555_62221556insG	ENST00000266068.1	-	9	1957_1958	c.1479_1480insC	c.(1477-1482)gcctcgfs	p.S494fs	GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.S494fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.S443fs			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	494					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGCCAGGCGAGGCCTGGGCCA	0.683																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(1477-1482)gccgccfs		glucocorticoid modulatory element binding protein 2																																				SO:0001589	frameshift_variant	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221555_62221556insG	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1480dupC	20.37:g.62221557_62221557dupG	ENSP00000266068:p.Ser494fs					GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.A494fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.A443fs	p.A494fs			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		9	1957_1958	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		494					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Frame_Shift_Ins	INS	ENST00000266068.1	37	c.1479_1480insC	CCDS13528.1																																																																																				0.683	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		7	239						7	239	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360589	70360591	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:70360589_70360591delAGC	ENST00000374080.3	+	42	6181_6183	c.6149_6151delAGC	c.(6148-6153)gagcag>gag	p.Q2076del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCCTACCTGagcagcagcagca	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6157-6162)gag>g		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360589_70360591delAGC	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6149_6151delAGC	X.37:g.70360598_70360600delAGC	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del	p.EQ2053del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6357_6359	+	Renal(35;0.156)		2050			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6158_6160delAGC	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	455						9	455	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046080	73046080	+	lincRNA	DEL	T	T	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGCCTGGCACTTTTTTTTCCC	0.423																																						ENST00000604411.1																			0																				118.0	116.0	117.0					X																	73046080		876	1991	2867			0							g.chrX:73046080delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046080delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34041	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.423	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	874						7	874	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0.0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		15	249						15	249	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		12	274						12	274	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	459						9	459	---	---	---	---
