#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
DKK2	27123	broad.mit.edu	37	4	107956655	107956655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:107956655G>A	ENST00000285311.3	-	1	799	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	32					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGTTTGGCCCGCGAACTGCCG	0.637																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(94-96)Cgg>Tgg		dickkopf WNT signaling pathway inhibitor 2							80.0	81.0	81.0					4																	107956655		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956655G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.94C>T	4.37:g.107956655G>A	ENSP00000285311:p.Arg32Trp					DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	p.R32W	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	799	-		Hepatocellular(203;0.217)	32					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.94C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972807	0.53614	.	.	ENSG00000155011	ENST00000285311	T	0.47528	0.84	4.95	4.03	0.46877	.	0.298320	0.35436	N	0.003206	T	0.45115	0.1326	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.984	P;B	0.56648	0.803;0.19	T	0.31752	-0.9932	10	0.37606	T	0.19	-15.4897	12.802	0.57591	0.0:0.0:0.7429:0.2571	.	32;32	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	W	32	ENSP00000285311:R32W	ENSP00000285311:R32W	R	-	1	2	DKK2	108176104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.809000	0.38922	2.570000	0.86706	0.544000	0.68410	CGG		0.637	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			4	169	0	0	0	1	0	4	169				
CTNNBIP1	56998	broad.mit.edu	37	1	9931303	9931303	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:9931303G>A	ENST00000377263.1	-	5	440	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	43					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647																																						ENST00000377263.1																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(127-129)acC>acT		catenin, beta interacting protein 1							70.0	53.0	59.0					1																	9931303		2200	4295	6495	SO:0001819	synonymous_variant	56998				anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding	g.chr1:9931303G>A	AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.129C>T	1.37:g.9931303G>A						CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	440	-		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	43					Q5T4V2	Silent	SNP	ENST00000377263.1	37	c.129C>T	CCDS106.1																																																																																				0.647	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005012.1	NM_020248		2	8	0	0	0	1	0	2	8				
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22.0	27.0	25.0					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		5	94	0	0	0	1	0	5	94				
NUTM1	256646	broad.mit.edu	37	15	34648411	34648411	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:34648411C>A	ENST00000333756.4	+	7	2273	c.2118C>A	c.(2116-2118)tcC>tcA	p.S706S	NUTM1_ENST00000438749.3_Silent_p.S724S|NUTM1_ENST00000537011.1_Silent_p.S734S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	706						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAATCCTTCCCCTAGAGCAG	0.557																																						ENST00000537011.1																			0											c.(2200-2202)tcC>tcA		NUT midline carcinoma, family member 1							44.0	45.0	44.0					15																	34648411		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34648411C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2118C>A	15.37:g.34648411C>A						NUTM1_ENST00000333756.4_Silent_p.S706S|NUTM1_ENST00000438749.3_Silent_p.S724S	p.S734S							8	2584	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2202C>A	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		12	40	1	0	2.80697e-09	1	3.17771e-09	12	40				
PAMR1	25891	broad.mit.edu	37	11	35515710	35515710	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:35515710C>T	ENST00000378880.2	-	2	629	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	62	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V62M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTATAACCCACGACTTCCCTC	0.522																																						ENST00000378880.2																			1	Substitution - Missense(1)	p.V62M(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(184-186)Gtg>Atg		peptidase domain containing associated with muscle regeneration 1							250.0	182.0	205.0					11																	35515710		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515710C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.184G>A	11.37:g.35515710C>T	ENSP00000368158:p.Val62Met					PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M	p.V62M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			2	629	-			62			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.184G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291209	0.59976	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.92911	-2.5;-2.53;-2.91;-2.44;-2.46;-3.13	4.72	4.72	0.59763	.	0.145674	0.44688	D	0.000421	D	0.93200	0.7834	L	0.27053	0.805	0.26082	N	0.98108	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.972;0.994;0.987	D	0.88520	0.3095	10	0.87932	D	0	.	17.6665	0.88203	0.0:1.0:0.0:0.0	.	62;62;62	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	M	62;62;62;22;22;62	ENSP00000278360:V62M;ENSP00000368158:V62M;ENSP00000368156:V62M;ENSP00000433868:V22M;ENSP00000432591:V22M;ENSP00000433024:V62M	ENSP00000278360:V62M	V	-	1	0	PAMR1	35472286	1.000000	0.71417	0.955000	0.39395	0.370000	0.29829	4.852000	0.62904	2.174000	0.68829	0.462000	0.41574	GTG		0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		3	125	0	0	0	1	0	3	125				
EPB41L3	23136	broad.mit.edu	37	18	5395133	5395133	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5395133C>T	ENST00000341928.2	-	21	3426	c.3086G>A	c.(3085-3087)gGc>gAc	p.G1029D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1029	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTGAAATGCCCCCTTTCAC	0.478																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3085-3087)gGc>gAc		erythrocyte membrane protein band 4.1-like 3							125.0	105.0	112.0					18																	5395133		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395133C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3086G>A	18.37:g.5395133C>T	ENSP00000343158:p.Gly1029Asp					EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D	p.G1029D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3426	-			1029			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3086G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106629	0.94292	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;0.996;1.0;1.0	D	0.95869	0.8889	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	860;326;334;421;698;807;1029;264	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	D	1029;698;860;698;326;334;1029;807	ENSP00000343158:G1029D;ENSP00000441174:G860D;ENSP00000392195:G326D;ENSP00000442233:G334D;ENSP00000341138:G1029D;ENSP00000382981:G807D	ENSP00000343158:G1029D	G	-	2	0	EPB41L3	5385133	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.764000	0.85297	2.826000	0.97356	0.655000	0.94253	GGC		0.478	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		3	91	0	0	0	1	0	3	91				
FAT3	120114	broad.mit.edu	37	11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000525166.1_Missense_Mutation_p.D895N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3133-3135)Gac>Aac		FAT atypical cadherin 3							100.0	98.0	99.0					11																	92088411		1979	4155	6134	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088411G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3133G>A	11.37:g.92088411G>A	ENSP00000298047:p.Asp1045Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000525166.1_Missense_Mutation_p.D895N	p.D1045N			Q8TDW7	FAT3_HUMAN			1	3150	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1045			Cadherin 10.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3133G>A		.	.	.	.	.	.	.	.	.	.	G	16.21	3.060184	0.55432	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60171	4.67;4.67;0.21;4.67	5.86	5.86	0.93980	.	.	.	.	.	T	0.50497	0.1619	N	0.14661	0.345	0.37352	D	0.91085	D	0.53745	0.962	P	0.50082	0.63	T	0.48692	-0.9013	9	0.16420	T	0.52	.	19.1684	0.93567	0.0:0.0:1.0:0.0	.	1045	Q8TDW7-3	.	N	1045;1045;1045;895	ENSP00000298047:D1045N;ENSP00000387040:D1045N;ENSP00000443786:D1045N;ENSP00000432586:D895N	ENSP00000298047:D1045N	D	+	1	0	FAT3	91728059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.777000	0.95525	0.655000	0.94253	GAC		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	53	0	0	0	1	0	4	53				
POM121	9883	broad.mit.edu	37	7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	ENST00000434423.2	+	6	1364	c.1364T>G	c.(1363-1365)aTa>aGa	p.I455R	POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000395270.1_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	455	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCAAAGAAAATAAGGTACTTG	0.537																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(568-570)aTa>aGa		POM121 transmembrane nucleoporin							102.0	112.0	109.0					7																	72409217		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72409217T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1364T>G	7.37:g.72409217T>G	ENSP00000405562:p.Ile455Arg					POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	p.I190R	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			9	1610	+		Lung NSC(55;0.163)	455			Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.569T>G		.	.	.	.	.	.	.	.	.	.	T	9.317	1.057087	0.19907	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	3.74	-0.211	0.13172	.	1.021390	0.07865	N	0.966918	T	0.06917	0.0176	N	0.20685	0.6	0.33184	D	0.549967	B;B	0.10296	0.003;0.0	B;B	0.11329	0.003;0.006	T	0.28586	-1.0039	10	0.59425	D	0.04	.	4.2811	0.10833	0.0:0.5229:0.2243:0.2528	.	190;455	A8MXF9;Q96HA1	.;P121A_HUMAN	R	190;190;190;190;455	ENSP00000393020:I190R;ENSP00000257622:I190R;ENSP00000378687:I190R;ENSP00000351124:I190R;ENSP00000405562:I455R	ENSP00000257622:I190R	I	+	2	0	POM121	72047153	0.002000	0.14202	0.498000	0.27564	0.689000	0.40095	0.232000	0.17891	0.097000	0.17492	0.333000	0.21579	ATA		0.537	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			14	111	0	0	0	1	0	14	111				
NUDT16L1	84309	broad.mit.edu	37	16	4744195	4744195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:4744195G>T	ENST00000304301.6	+	2	403	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	NUDT16L1_ENST00000405142.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	124	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GCAGCTGCACGCCGTGGAGAT	0.761																																						ENST00000405142.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(370-372)Gcc>Tcc		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1																																				SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4744195G>T	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.370G>T	16.37:g.4744195G>T	ENSP00000306670:p.Ala124Ser					NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S	p.A124S			Q9BRJ7	SDOS_HUMAN			2	379	+			124			Interaction with PXN (By similarity).		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.370G>T	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224796	0.58668	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	T	0.41758	0.99	3.91	2.95	0.34219	NUDIX hydrolase domain-like (1);	0.280844	0.33650	N	0.004692	T	0.38825	0.1055	L	0.43152	1.355	0.34427	D	0.698087	P;B	0.45531	0.86;0.129	P;B	0.48770	0.589;0.045	T	0.50127	-0.8864	10	0.44086	T	0.13	.	6.1644	0.20382	0.319:0.0:0.681:0.0	.	124;124	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	S	124	ENSP00000306670:A124S	ENSP00000306670:A124S	A	+	1	0	NUDT16L1	4684196	1.000000	0.71417	0.970000	0.41538	0.977000	0.68977	3.903000	0.56318	0.758000	0.33059	-0.142000	0.14014	GCC		0.761	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		4	3	1	0	0.00909568	1	0.00940932	4	3				
DCAF4L2	138009	broad.mit.edu	37	8	88885088	88885088	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:88885088C>T	ENST00000319675.3	-	1	1208	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	371								p.R371H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCCCGAGGCGAGAAGAGAA	0.592																																						ENST00000319675.3																			1	Substitution - Missense(1)	p.R371H(1)	endometrium(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1111-1113)cGc>cAc		DDB1 and CUL4 associated factor 4-like 2							61.0	68.0	65.0					8																	88885088		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885088C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1112G>A	8.37:g.88885088C>T	ENSP00000316496:p.Arg371His						p.R371H	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1208	-			371						Missense_Mutation	SNP	ENST00000319675.3	37	c.1112G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604790	0.46423	.	.	ENSG00000176566	ENST00000319675	T	0.20881	2.04	1.37	-2.07	0.07276	.	0.476082	0.23175	N	0.051097	T	0.11836	0.0288	L	0.31294	0.92	0.29837	N	0.829553	B	0.18461	0.028	B	0.17979	0.02	T	0.07404	-1.0774	10	0.49607	T	0.09	.	5.7954	0.18383	0.0:0.3033:0.0:0.6967	.	371	Q8NA75	DC4L2_HUMAN	H	371	ENSP00000316496:R371H	ENSP00000316496:R371H	R	-	2	0	DCAF4L2	88954204	0.989000	0.36119	0.066000	0.19879	0.207000	0.24258	1.137000	0.31479	-0.640000	0.05495	-0.373000	0.07131	CGC		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		17	39	0	0	0	1	0	17	39				
TRERF1	55809	broad.mit.edu	37	6	42231118	42231118	+	Silent	SNP	G	G	A	rs574595307	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:42231118G>A	ENST00000372922.4	-	8	2386	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	TRERF1_ENST00000541110.1_Silent_p.A608A|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	608	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGGGGGCGGCAACGGTGC	0.637													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14915	0.0		0.0	False		,,,				2504	0.001					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1822-1824)gcC>gcT		transcriptional regulating factor 1							63.0	67.0	66.0					6																	42231118		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231118G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1824C>T	6.37:g.42231118G>A						TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Silent_p.A608A|TRERF1_ENST00000354325.2_Intron	p.A608A			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2392	-	Colorectal(47;0.196)		608			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1824C>T	CCDS4867.1																																																																																				0.637	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	140	0	0	0	1	0	3	140				
COL6A6	131873	broad.mit.edu	37	3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:130285695G>A	ENST00000358511.6	+	4	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	478	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1432-1434)Gtt>Att		collagen, type VI, alpha 6							132.0	133.0	133.0					3																	130285695		1926	4114	6040	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285695G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1432G>A	3.37:g.130285695G>A	ENSP00000351310:p.Val478Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1463	+			478			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1432G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731475	0.89390	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84800	-1.9;-1.9	5.18	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000052	D	0.90518	0.7029	L	0.49455	1.56	0.50467	D	0.999873	D	0.89917	1.0	D	0.87578	0.998	D	0.91033	0.4865	10	0.59425	D	0.04	.	18.2817	0.90101	0.0:0.0:1.0:0.0	.	478	A6NMZ7	CO6A6_HUMAN	I	478	ENSP00000351310:V478I;ENSP00000399236:V478I	ENSP00000351310:V478I	V	+	1	0	COL6A6	131768385	1.000000	0.71417	0.316000	0.25252	0.982000	0.71751	9.529000	0.98049	2.412000	0.81896	0.561000	0.74099	GTT		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		3	158	0	0	0	1	0	3	158				
COL9A1	1297	broad.mit.edu	37	6	70990553	70990553	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:70990553G>T	ENST00000357250.6	-	10	1095	c.937C>A	c.(937-939)Cca>Aca	p.P313T	COL9A1_ENST00000370499.4_Missense_Mutation_p.P70T|COL9A1_ENST00000320755.7_Missense_Mutation_p.P70T|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Missense_Mutation_p.P313T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	313	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.P313T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGAGCTCCTGGCTTTCCCGGT	0.627																																						ENST00000357250.6																			1	Substitution - Missense(1)	p.P313T(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(937-939)Cca>Aca		collagen, type IX, alpha 1																																				SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70990553G>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.937C>A	6.37:g.70990553G>T	ENSP00000349790:p.Pro313Thr					COL9A1_ENST00000370499.4_Missense_Mutation_p.P70T|COL9A1_ENST00000370496.3_Missense_Mutation_p.P313T|COL9A1_ENST00000320755.7_Missense_Mutation_p.P70T	p.P313T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			10	1095	-			313			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.937C>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761439	0.15914	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.73	5.73	3.95	0.45737	.	0.239072	0.50627	D	0.000120	D	0.84392	0.5462	L	0.45051	1.395	0.40273	D	0.978311	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.003	T	0.77542	-0.2549	10	0.22109	T	0.4	.	3.7236	0.08466	0.143:0.1328:0.5866:0.1376	.	313;70	P20849;P20849-2	CO9A1_HUMAN;.	T	313;70;70;313	ENSP00000349790:P313T;ENSP00000315252:P70T;ENSP00000359530:P70T;ENSP00000359527:P313T	ENSP00000315252:P70T	P	-	1	0	COL9A1	71047274	1.000000	0.71417	0.876000	0.34364	0.000000	0.00434	2.069000	0.41481	0.779000	0.33543	-0.897000	0.02905	CCA		0.627	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	8	1	0	0.150653	1	0.153207	4	8				
GGT1	2678	broad.mit.edu	37	22	24982300	24982300	+	Intron	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:24982300C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.V168L	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGTGTTGCACGTCCTGTGTC	0.617																																						ENST00000318753.8																			0											c.(502-504)Gtg>Ttg		family with sequence similarity 211, member B							156.0	170.0	166.0					22																	24982300		2188	4280	6468	SO:0001627	intron_variant	388886							g.chr22:24982300C>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2524C>A	22.37:g.24982300C>A						GGT1_ENST00000248923.4_Intron	p.V168L	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	525	-			168					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.502G>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	0.312	-0.967338	0.02232	.	.	ENSG00000178026	ENST00000318753	T	0.28666	1.6	3.48	-0.0272	0.13927	.	0.081533	0.48767	U	0.000171	T	0.14442	0.0349	L	0.31065	0.9	0.28598	N	0.909312	B	0.12013	0.005	B	0.11329	0.006	T	0.35847	-0.9772	10	0.02654	T	1	-5.3301	6.07	0.19883	0.0:0.6593:0.155:0.1857	.	168	Q2VPJ9	LRC6X_HUMAN	L	168	ENSP00000320520:V168L	ENSP00000320520:V168L	V	-	1	0	C22orf36	23312300	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.126000	0.10563	-0.036000	0.13669	-0.254000	0.11334	GTG		0.617	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		7	355	1	0	0.000274275	1	0.000293866	7	355				
DPP6	1804	broad.mit.edu	37	7	154677383	154677383	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:154677383A>G	ENST00000377770.3	+	22	2315	c.2174A>G	c.(2173-2175)aAg>aGg	p.K725R	DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000404039.1_Missense_Mutation_p.K661R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	725					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCCAGCAAAGGGAGAAAAT	0.517																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1981-1983)aAg>aGg		dipeptidyl-peptidase 6							61.0	66.0	64.0					7																	154677383		2005	4181	6186	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154677383A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2174A>G	7.37:g.154677383A>G	ENSP00000367001:p.Lys725Arg					DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R|DPP6_ENST00000377770.3_Missense_Mutation_p.K725R	p.K661R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		22	2569	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	725						Missense_Mutation	SNP	ENST00000377770.3	37	c.1982A>G		.	.	.	.	.	.	.	.	.	.	A	5.889	0.348222	0.11126	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.43	5.43	0.79202	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.355607	0.31747	N	0.007125	T	0.29588	0.0738	N	0.17631	0.505	0.32388	N	0.55367	B;B;B;B	0.30179	0.271;0.102;0.124;0.124	B;B;B;B	0.38156	0.266;0.053;0.127;0.088	T	0.40021	-0.9585	10	0.33940	T	0.23	-20.797	5.8294	0.18572	0.7926:0.0:0.2074:0.0	.	618;663;725;661	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	661;725;663;618	ENSP00000385578:K661R;ENSP00000367001:K725R;ENSP00000328226:K663R;ENSP00000397303:K618R	ENSP00000328226:K663R	K	+	2	0	DPP6	154308316	1.000000	0.71417	0.323000	0.25347	0.005000	0.04900	5.802000	0.69122	2.061000	0.61500	0.482000	0.46254	AAG		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		2	8	0	0	0	1	0	2	8				
WNT6	7475	broad.mit.edu	37	2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	ENST00000233948.3	+	2	365	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	50					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(148-150)Cgg>Tgg		wingless-type MMTV integration site family, member 6							49.0	59.0	56.0					2																	219735816		2201	4297	6498	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735816C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.148C>T	2.37:g.219735816C>T	ENSP00000233948:p.Arg50Trp					WNT6_ENST00000486233.1_Intron	p.R50W	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	365	+		Renal(207;0.0474)	50					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.148C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.186601	0.57909	.	.	ENSG00000115596	ENST00000233948	T	0.77229	-1.08	5.17	-0.358	0.12575	.	0.113008	0.56097	D	0.000022	T	0.75496	0.3857	M	0.84082	2.675	0.29915	N	0.823267	B	0.06786	0.001	B	0.01281	0.0	T	0.69304	-0.5180	10	0.59425	D	0.04	.	10.3123	0.43716	0.5834:0.3449:0.0:0.0717	.	50	Q9Y6F9	WNT6_HUMAN	W	50	ENSP00000233948:R50W	ENSP00000233948:R50W	R	+	1	2	WNT6	219444060	0.284000	0.24287	0.540000	0.28089	0.764000	0.43329	0.942000	0.29017	-0.323000	0.08602	-2.694000	0.00139	CGG		0.667	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		6	123	0	0	0	1	0	6	123				
ZBTB6	10773	broad.mit.edu	37	9	125673324	125673324	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:125673324C>T	ENST00000373659.3	-	2	1116	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCGGATGTGTCGGTTGAGATT	0.413																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(1027-1029)cGa>cAa		zinc finger and BTB domain containing 6							86.0	87.0	87.0					9																	125673324		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673324C>T	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1028G>A	9.37:g.125673324C>T	ENSP00000362763:p.Arg343Gln						p.R343Q	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	1116	-			343					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.1028G>A	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929165	0.92389	.	.	ENSG00000186130	ENST00000373659	T	0.26223	1.75	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.41356	1.27	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.02632	-1.1131	10	0.11794	T	0.64	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	343	Q15916	ZBTB6_HUMAN	Q	343	ENSP00000362763:R343Q	ENSP00000362763:R343Q	R	-	2	0	ZBTB6	124713145	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	5.919000	0.70005	2.941000	0.99782	0.655000	0.94253	CGA		0.413	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		12	67	0	0	0	1	0	12	67				
DPP7	29952	broad.mit.edu	37	9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	ENST00000371579.2	-	5	533	c.529C>T	c.(529-531)Cac>Tac	p.H177Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	177						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(529-531)Cac>Tac		dipeptidyl-peptidase 7							28.0	32.0	31.0					9																	140007905		2197	4283	6480	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140007905G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.529C>T	9.37:g.140007905G>A	ENSP00000360635:p.His177Tyr						p.H177Y	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	5	533	-	all_cancers(76;0.0926)		177					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.529C>T	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.533502|4.533502	0.85812|0.85812	.|.	.|.	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	D|.	0.92446|.	-3.04|.	5.11|5.11	2.0|2.0	0.26442|0.26442	.|.	0.116150|.	0.56097|.	D|.	0.000032|.	T|T	0.52948|0.52948	0.1766|0.1766	M|M	0.86573|0.86573	2.825|2.825	0.32296|0.32296	N|N	0.565591|0.565591	D|B	0.76494|0.18461	0.999|0.028	D|B	0.75020|0.23574	0.985|0.047	T|T	0.62599|0.62599	-0.6820|-0.6820	10|8	0.66056|0.87932	D|D	0.02|0	-33.5159|-33.5159	2.5342|2.5342	0.04711|0.04711	0.103:0.1494:0.4957:0.2519|0.103:0.1494:0.4957:0.2519	.|.	177|200	Q9UHL4|E7EQS4	DPP2_HUMAN|.	Y|L	177|200	ENSP00000360635:H177Y|.	ENSP00000360635:H177Y|ENSP00000413492:P200L	H|P	-|-	1|2	0|0	DPP7|DPP7	139127726|139127726	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	1.840000|1.840000	0.39230|0.39230	1.165000|1.165000	0.42670|0.42670	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.642	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		3	37	0	0	0	1	0	3	37				
NPHP4	261734	broad.mit.edu	37	1	5934619	5934619	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:5934619G>A	ENST00000378156.4	-	22	3408	c.3143C>T	c.(3142-3144)gCc>gTc	p.A1048V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1048					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGGGGGCCAGGCTGCC	0.652																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3142-3144)gCc>gTc		nephronophthisis 4							19.0	22.0	21.0					1																	5934619		2144	4222	6366	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5934619G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3143C>T	1.37:g.5934619G>A	ENSP00000367398:p.Ala1048Val					NPHP4_ENST00000478423.2_5'UTR	p.A1048V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	22	3408	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1048					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.3143C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	7.839	0.721475	0.15372	.	.	ENSG00000131697	ENST00000378156	T	0.71579	-0.58	5.38	3.46	0.39613	.	0.390921	0.24727	N	0.036100	T	0.57961	0.2089	L	0.51422	1.61	0.09310	N	1	P	0.34615	0.459	B	0.29353	0.101	T	0.53830	-0.8383	10	0.54805	T	0.06	.	5.5265	0.16960	0.0749:0.4001:0.3875:0.1375	.	1048	O75161	NPHP4_HUMAN	V	1048	ENSP00000367398:A1048V	ENSP00000367398:A1048V	A	-	2	0	NPHP4	5857206	0.001000	0.12720	0.989000	0.46669	0.023000	0.10783	0.302000	0.19192	0.610000	0.30035	-0.181000	0.13052	GCC		0.652	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	19	0	0	0	1	0	4	19				
SERBP1	26135	broad.mit.edu	37	1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	ENST00000370995.2	-	1	306	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000370994.4_Missense_Mutation_p.S74F			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	74					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(220-222)tCc>tTc		SERPINE1 mRNA binding protein 1							42.0	52.0	48.0					1																	67895763		2196	4285	6481	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895763G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.221C>T	1.37:g.67895763G>A	ENSP00000360034:p.Ser74Phe					SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F	p.S74F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			1	335	-			74					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.221C>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306183	0.95629	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	4.99	4.99	0.66335	.	0.056851	0.64402	D	0.000001	T	0.80854	0.4703	M	0.83603	2.65	0.80722	D	1	P;D;D;D	0.89917	0.917;0.999;1.0;1.0	B;D;D;D	0.87578	0.445;0.996;0.998;0.998	D	0.83680	0.0171	9	0.72032	D	0.01	0.9581	17.4097	0.87482	0.0:0.0:1.0:0.0	.	137;137;74;74	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	F	74	.	ENSP00000354591:S74F	S	-	2	0	SERBP1	67668351	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.969000	0.93411	2.471000	0.83476	0.462000	0.41574	TCC		0.667	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		14	86	0	0	0	1	0	14	86				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	3	0	0	0	1	0	3	3				
SPATA31D1	389763	broad.mit.edu	37	9	84607230	84607230	+	Silent	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:84607230T>C	ENST00000344803.2	+	4	1892	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGCACGGTCTCTTTTGCCAT	0.478																																						ENST00000344803.2																			0											c.(1843-1845)tcT>tcC		SPATA31 subfamily D, member 1							116.0	106.0	109.0					9																	84607230		1889	4119	6008	SO:0001819	synonymous_variant	389763							g.chr9:84607230T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1845T>C	9.37:g.84607230T>C							p.S615S	NM_001001670.2	NP_001001670.1					4	1892	+									Silent	SNP	ENST00000344803.2	37	c.1845T>C	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	81	0	0	0	1	0	4	81				
DHX57	90957	broad.mit.edu	37	2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	ENST00000295373.6	-	15	2830	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	902	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2704-2706)Cct>Gct		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							101.0	93.0	96.0					2																	39053767		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053767G>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2704C>G	2.37:g.39053767G>C	ENSP00000295373:p.Pro902Ala						p.P902A	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			15	2830	-		all_hematologic(82;0.248)	902			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2704C>G	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.98|11.98	1.800392|1.800392	0.31869|0.31869	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.74632|.	-0.86|.	5.38|5.38	3.51|3.51	0.40186|0.40186	Helicase, C-terminal (3);|.	0.000000|.	0.50627|.	D|.	0.000103|.	T|T	0.54111|0.54111	0.1838|0.1838	L|L	0.38649|0.38649	1.16|1.16	0.52099|0.52099	D|D	0.999942|0.999942	D;D;P|.	0.89917|.	0.994;1.0;0.84|.	D;D;P|.	0.78314|.	0.98;0.991;0.557|.	T|T	0.44742|0.44742	-0.9308|-0.9308	10|5	0.20519|.	T|.	0.43|.	.|.	12.1624|12.1624	0.54110|0.54110	0.0:0.1304:0.7339:0.1357|0.0:0.1304:0.7339:0.1357	.|.	902;902;294|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	A|S	902|225	ENSP00000295373:P902A|.	ENSP00000295373:P902A|.	P|T	-|-	1|2	0|0	DHX57|DHX57	38907271|38907271	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.735000|0.735000	0.41995|0.41995	7.744000|7.744000	0.85034|0.85034	0.586000|0.586000	0.29626|0.29626	0.563000|0.563000	0.77884|0.77884	CCT|ACC		0.383	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		3	55	0	0	0	1	0	3	55				
EPB41L3	23136	broad.mit.edu	37	18	5419867	5419867	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5419867G>A	ENST00000341928.2	-	12	1689	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I	EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I|EPB41L3_ENST00000427684.2_5'Flank|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000542146.1_5'Flank|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	450	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTACTGGCCAGTACCAACCTC	0.438																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1348-1350)aCt>aTt		erythrocyte membrane protein band 4.1-like 3							119.0	97.0	105.0					18																	5419867		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419867G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1349C>T	18.37:g.5419867G>A	ENSP00000343158:p.Thr450Ile					EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I	p.T450I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			12	1689	-			450			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1349C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383867	0.25031	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82803	-1.54;-1.62;-1.54;-1.65	5.61	4.74	0.60224	.	0.289856	0.37530	N	0.002049	D	0.89371	0.6696	M	0.63428	1.95	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;0.986;0.992;0.894	D;D;P;P;P	0.85130	0.997;0.953;0.593;0.77;0.578	D	0.89767	0.3951	10	0.52906	T	0.07	.	15.0081	0.71527	0.0688:0.0:0.9312:0.0	.	468;29;359;468;450	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	I	450;359;468;359;450;468	ENSP00000343158:T450I;ENSP00000441174:T468I;ENSP00000341138:T450I;ENSP00000382981:T468I	ENSP00000343158:T450I	T	-	2	0	EPB41L3	5409867	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.824000	0.86668	1.514000	0.48869	-0.150000	0.13652	ACT		0.438	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		3	117	0	0	0	1	0	3	117				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	90	0	0	0	1	0	3	90				
HPN	3249	broad.mit.edu	37	19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.V231I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	389	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1165-1167)Gtc>Atc		hepsin	Coagulation factor VIIa(DB00036)						117.0	125.0	123.0					19																	35556886		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556886G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1165G>A	19.37:g.35556886G>A	ENSP00000262626:p.Val389Ile					HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA	p.V389I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	1990	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		389			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1165G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245481	0.95272	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.90732	-2.72;-2.72	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.063724	0.64402	D	0.000008	D	0.93331	0.7874	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	D	0.93911	0.7197	10	0.87932	D	0	.	15.5171	0.75833	0.0:0.0:1.0:0.0	.	361;389;389	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	I	389;389;361	ENSP00000262626:V389I;ENSP00000376060:V389I	ENSP00000262626:V389I	V	+	1	0	HPN	40248726	1.000000	0.71417	0.956000	0.39512	0.975000	0.68041	7.516000	0.81772	2.533000	0.85409	0.455000	0.32223	GTC		0.587	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	169	0	0	0	1	0	4	169				
ATP8B2	57198	broad.mit.edu	37	1	154309883	154309883	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:154309883G>A	ENST00000368489.3	+	12	996	c.996G>A	c.(994-996)gaG>gaA	p.E332E	RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Silent_p.E299E|ATP8B2_ENST00000341822.2_Silent_p.E318E|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	318					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCTGGGAGCACGAGGTGG	0.557																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(994-996)gaG>gaA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							293.0	245.0	261.0					1																	154309883		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309883G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.996G>A	1.37:g.154309883G>A						ATP8B2_ENST00000368487.3_Silent_p.E299E|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.E318E	p.E332E	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	996	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		318					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.996G>A	CCDS1066.1																																																																																				0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		4	195	0	0	0	1	0	4	195				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	14	0	0	0	1	0	3	14				
FAT4	79633	broad.mit.edu	37	4	126242060	126242060	+	Silent	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	ENST00000394329.3	+	1	4507	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1498	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAAAGCCAATGATCAAG	0.383																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4492-4494)gcC>gcG		FAT atypical cadherin 4							117.0	108.0	111.0					4																	126242060		1902	4126	6028	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242060C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4494C>G	4.37:g.126242060C>G							p.A1498A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4507	+			1498			Cadherin 14.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4494C>G	CCDS3732.3																																																																																				0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		22	99	0	0	0	1	0	22	99				
TMX2	51075	broad.mit.edu	37	11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G	rs372453729		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	ENST00000278422.4	+	5	538	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	C11orf31_ENST00000388857.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.I138V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	176	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(526-528)Atc>Gtc		thioredoxin-related transmembrane protein 2		A	VAL/ILE,VAL/ILE	0,4402		0,0,2201	175.0	160.0	165.0		412,526	5.9	1.0	11		165	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	TMX2	NM_001144012.2,NM_015959.3	29,29	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	138/259,176/297	57506220	1,12993	2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506220A>G	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.526A>G	11.37:g.57506220A>G	ENSP00000278422:p.Ile176Val					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.I138V	p.I176V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	538	+			176			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.526A>G	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	A	7.805	0.714519	0.15306	0.0	1.16E-4	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.21191	2.02;2.02	5.95	5.95	0.96441	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.131333	0.50627	U	0.000102	T	0.12987	0.0315	N	0.16166	0.38	0.48696	D	0.999695	B;B	0.06786	0.0;0.001	B;B	0.13407	0.003;0.009	T	0.10590	-1.0623	10	0.07990	T	0.79	-9.9816	16.0852	0.81042	1.0:0.0:0.0:0.0	.	138;176	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	V	138;176	ENSP00000367562:I138V;ENSP00000278422:I176V	ENSP00000278422:I176V	I	+	1	0	TMX2	57262796	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.782000	0.55401	2.279000	0.76181	0.533000	0.62120	ATC		0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		32	155	0	0	0	1	0	32	155				
PLCL1	5334	broad.mit.edu	37	2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T	rs201009322		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:198950517C>T	ENST00000428675.1	+	2	2674	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	759	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2275-2277)gCg>gTg		phospholipase C-like 1	Quinacrine(DB01103)	C	VAL/ALA	0,4406		0,0,2203	79.0	76.0	77.0		2276	5.4	1.0	2		77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PLCL1	NM_006226.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	759/1096	198950517	2,13004	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950517C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2276C>T	2.37:g.198950517C>T	ENSP00000402861:p.Ala759Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	p.A759V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2674	+			759			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2276C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889785	0.72524	0.0	2.33E-4	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.67698	-0.28;-0.28	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.188096	0.37809	N	0.001936	T	0.70237	0.3201	L	0.43152	1.355	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.52189	0.642;0.692	T	0.67245	-0.5719	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	759;685	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	759;661	ENSP00000402861:A759V;ENSP00000414138:A661V	.	A	+	2	0	PLCL1	198658762	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	GCG		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		10	52	0	0	0	1	0	10	52				
PPM1K	152926	broad.mit.edu	37	4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	ENST00000608933.1	-	7	1393	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	PPM1K_ENST00000295908.7_Missense_Mutation_p.T290I|PPM1K_ENST00000508256.1_Missense_Mutation_p.T116I	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	335	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(1003-1005)aCt>aTt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							88.0	82.0	84.0					4																	89183862		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89183862G>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.1004C>T	4.37:g.89183862G>A	ENSP00000477341:p.Thr335Ile						p.T335I	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	7	1393	-		Hepatocellular(203;0.114)	335			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.1004C>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287434	0.40494	.	.	ENSG00000163644	ENST00000295908	T	0.19669	2.13	4.09	3.24	0.37175	Protein phosphatase 2C-like (5);	0.115300	0.64402	D	0.000013	T	0.39682	0.1087	L	0.52011	1.625	0.80722	D	1	P	0.44478	0.836	D	0.67548	0.952	T	0.29610	-1.0006	10	0.87932	D	0	-6.7388	13.6472	0.62288	0.0:0.1574:0.8426:0.0	.	335	Q8N3J5	PPM1K_HUMAN	I	335	ENSP00000295908:T335I	ENSP00000295908:T335I	T	-	2	0	PPM1K	89402886	0.993000	0.37304	0.013000	0.15412	0.030000	0.12068	5.219000	0.65262	1.277000	0.44412	0.650000	0.86243	ACT		0.423	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		10	39	0	0	0	1	0	10	39				
FOXP1	27086	broad.mit.edu	37	3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	ENST00000318789.4	-	10	1156	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(631-633)Cag>Tag		forkhead box P1							169.0	173.0	171.0					3																	71096126		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096126G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.631C>T	3.37:g.71096126G>A	ENSP00000318902:p.Gln211*					FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*	p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1156	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	211	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.631C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	37	6.248715	0.97412	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	.	.	.	6.03	6.03	0.97812	.	0.103808	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	211;111;211;211;107;213;211;211;135;211;111;111	.	ENSP00000318902:Q211X	Q	-	1	0	FOXP1	71178816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.878000	0.92393	2.854000	0.98071	0.655000	0.94253	CAG		0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		24	262	0	0	0	1	0	24	262				
ZNF610	162963	broad.mit.edu	37	19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	ENST00000403906.3	+	6	814	c.358C>A	c.(358-360)Cct>Act	p.P120T	ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T|ZNF610_ENST00000601151.1_Missense_Mutation_p.P77T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	120					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(229-231)Cct>Act		zinc finger protein 610							126.0	138.0	134.0					19																	52868989		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52868989C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.358C>A	19.37:g.52868989C>A	ENSP00000383922:p.Pro120Thr					ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T	p.P77T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	681	+			120			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.229C>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832985	0.32421	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.04970	3.52;3.52	1.11	-5.75E-4	0.14038	.	.	.	.	.	T	0.05181	0.0138	M	0.64997	1.995	0.09310	N	1	P;P	0.39809	0.689;0.563	B;B	0.25987	0.065;0.03	T	0.37244	-0.9714	9	0.27082	T	0.32	.	5.3653	0.16111	0.0:0.7788:0.0:0.2212	.	77;120	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	T	120;77;120	ENSP00000383922:P120T;ENSP00000327597:P120T	ENSP00000324441:P77T	P	+	1	0	ZNF610	57560801	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	-1.021000	0.03615	0.038000	0.15604	0.313000	0.20887	CCT		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		5	148	1	0	3.59834e-05	1	3.92546e-05	5	148				
PRKD3	23683	broad.mit.edu	37	2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Gcc>Tcc		protein kinase D3							105.0	100.0	102.0					2																	37516516		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37516516C>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.700G>T	2.37:g.37516516C>A	ENSP00000368356:p.Ala234Ser					PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S	p.A234S			O94806	KPCD3_HUMAN			5	1462	-		all_hematologic(82;0.21)	234					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.700G>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	0.721	-0.783505	0.02907	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.84730	-0.06;-0.06;-1.89	5.45	1.38	0.22167	.	0.814846	0.11169	N	0.592238	T	0.52980	0.1768	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.51004	-0.8760	10	0.02654	T	1	-0.4622	4.472	0.11717	0.1138:0.2295:0.502:0.1547	.	234;234	O94806-2;O94806	.;KPCD3_HUMAN	S	234;234;130	ENSP00000368356:A234S;ENSP00000234179:A234S;ENSP00000401839:A130S	ENSP00000234179:A234S	A	-	1	0	PRKD3	37370020	0.000000	0.05858	0.137000	0.22149	0.951000	0.60555	-0.770000	0.04705	-0.078000	0.12730	0.655000	0.94253	GCC		0.418	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		3	68	1	0	1	1	1	3	68				
ABCA4	24	broad.mit.edu	37	1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	ENST00000370225.3	-	14	2238	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	718					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2152-2154)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 4							111.0	104.0	106.0					1																	94526101		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526101A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2152T>C	1.37:g.94526101A>G	ENSP00000359245:p.Phe718Leu					ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2238	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	718					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2152T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492008	0.44352	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;T	0.84589	-1.87;-0.64	5.9	4.78	0.61160	.	0.230008	0.45606	D	0.000348	T	0.43478	0.1249	N	0.01242	-0.935	0.42139	D	0.991502	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.53229	-0.8468	10	0.48119	T	0.1	.	3.6172	0.08082	0.628:0.2169:0.155:0.0	.	718;718	F5H6E5;P78363	.;ABCA4_HUMAN	L	718	ENSP00000359245:F718L;ENSP00000437682:F718L	ENSP00000359245:F718L	F	-	1	0	ABCA4	94298689	0.996000	0.38824	0.921000	0.36526	0.950000	0.60333	2.864000	0.48404	2.266000	0.75297	0.528000	0.53228	TTC		0.468	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	54	0	0	0	1	0	9	54				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	3	1	0	0.004672	1	0.00491789	3	3				
FOXP1	27086	broad.mit.edu	37	3	71096127	71096127	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	ENST00000318789.4	-	10	1155	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000468577.1_Silent_p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(628-630)ggG>ggT		forkhead box P1							168.0	172.0	171.0					3																	71096127		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096127C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.630G>T	3.37:g.71096127C>A						FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000468577.1_Silent_p.G210G	p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1155	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	210	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.630G>T	CCDS2914.1																																																																																				0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		25	258	1	0	2.48779e-11	1	2.92682e-11	25	258				
ATOH1	474	broad.mit.edu	37	4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	ENST00000306011.3	+	1	896	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(859-861)gTg>gAg		atonal homolog 1 (Drosophila)							48.0	51.0	50.0					4																	94750937		2202	4298	6500	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750937T>A	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.860T>A	4.37:g.94750937T>A	ENSP00000302216:p.Val287Glu						p.V287E	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	896	+		Hepatocellular(203;0.114)	287					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.860T>A	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158064	0.38119	.	.	ENSG00000172238	ENST00000306011	D	0.97831	-4.56	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000007	D	0.93406	0.7897	L	0.27053	0.805	0.30508	N	0.769724	B	0.10296	0.003	B	0.09377	0.004	D	0.89420	0.3709	10	0.42905	T	0.14	-11.0778	7.3159	0.26501	0.2509:0.0:0.0:0.7491	.	287	Q92858	ATOH1_HUMAN	E	287	ENSP00000302216:V287E	ENSP00000302216:V287E	V	+	2	0	ATOH1	94969960	0.996000	0.38824	0.994000	0.49952	0.989000	0.77384	0.567000	0.23608	1.851000	0.53745	0.523000	0.50628	GTG		0.647	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		7	89	0	0	0	1	0	7	89				
ZNF205	7755	broad.mit.edu	37	16	3168943	3168943	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:3168943G>A	ENST00000382192.3	+	6	727	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ZNF205_ENST00000219091.4_Silent_p.A174A|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCCTCAAGCGCACGGCAAGG	0.652																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(520-522)gcG>gcA		zinc finger protein 205							61.0	72.0	68.0					16																	3168943		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3168943G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.522G>A	16.37:g.3168943G>A						RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A174A|RP11-473M20.14_ENST00000576490.1_RNA	p.A174A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			6	727	+			174			KRAB.		A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.522G>A	CCDS10494.2																																																																																				0.652	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		3	144	0	0	0	1	0	3	144				
EVC	2121	broad.mit.edu	37	4	5735120	5735120	+	Silent	SNP	C	C	T	rs200294295		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	ENST00000264956.6	+	5	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_ENST00000382674.2_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	220					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(658-660)gaC>gaT		Ellis van Creveld syndrome							330.0	311.0	318.0					4																	5735120		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5735120C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.660C>T	4.37:g.5735120C>T						EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D	p.D220D			P57679	EVC_HUMAN			5	844	+		Myeloproliferative disorder(84;0.117)	220						Silent	SNP	ENST00000264956.6	37	c.660C>T	CCDS3383.1																																																																																				0.468	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			63	281	0	0	0	1	0	63	281				
OR10J1	26476	broad.mit.edu	37	1	159410278	159410278	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:159410278C>T	ENST00000423932.3	+	1	767	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGTTGAGGGCCGGAAGAAGGC	0.478																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(730-732)Cgg>Tgg		olfactory receptor, family 10, subfamily J, member 1							190.0	177.0	181.0					1																	159410278		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410278C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.730C>T	1.37:g.159410278C>T	ENSP00000399078:p.Arg244Trp					RP11-550P17.5_ENST00000431862.1_RNA	p.R244W	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	767	+	all_hematologic(112;0.0429)		244					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.730C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982462	0.18889	.	.	ENSG00000196184	ENST00000423932	T	0.00335	8.06	3.73	-2.72	0.05968	GPCR, rhodopsin-like superfamily (1);	0.202066	0.24202	N	0.040602	T	0.00109	0.0003	M	0.78223	2.4	0.19945	N	0.999941	B	0.26258	0.145	B	0.26693	0.072	T	0.40608	-0.9554	10	0.66056	D	0.02	.	8.291	0.31958	0.6964:0.2136:0.0:0.09	.	244	P30954	O10J1_HUMAN	W	244	ENSP00000399078:R244W	ENSP00000399078:R244W	R	+	1	2	OR10J1	157676902	0.000000	0.05858	0.043000	0.18650	0.721000	0.41392	-2.320000	0.01119	-0.724000	0.04908	-0.284000	0.09977	CGG		0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		7	57	0	0	0	1	0	7	57				
TTN	7273	broad.mit.edu	37	2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	ENST00000591111.1	-	66	19176	c.18952T>G	c.(18952-18954)Tca>Gca	p.S6318A	TTN_ENST00000589042.1_Missense_Mutation_p.S6635A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A			Q8WZ42	TITIN_HUMAN	titin	13094	Ig-like 44.				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)			GCATCCACTGAGTAGAGATTT	0.403																																						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.(19903-19905)Tca>Gca		titin							194.0	198.0	197.0					2																	179592402		1989	4182	6171	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592402A>C	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.18952T>G	2.37:g.179592402A>C	ENSP00000465570:p.Ser6318Ala					TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.S6635A	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)		68	20127	-			6318			Ig-like 48.		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.19903T>G		.	.	.	.	.	.	.	.	.	.	A	9.914	1.210312	0.22289	.	.	ENSG00000155657	ENST00000342992	T	0.44083	0.93	5.99	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30324	0.0761	N	0.21583	0.68	0.80722	D	1	B	0.15473	0.013	B	0.16722	0.016	T	0.07751	-1.0756	9	0.87932	D	0	.	10.4442	0.44483	0.7397:0.0:0.0:0.2603	.	6318	Q8WZ42	TITIN_HUMAN	A	5391	ENSP00000343764:S5391A	ENSP00000343764:S5391A	S	-	1	0	TTN	179300647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	1.048000	0.40298	0.533000	0.62120	TCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	220	0	0	0	1	0	13	220				
FOLR4	390243	broad.mit.edu	37	11	94040719	94040719	+	Missense_Mutation	SNP	G	G	A	rs201445396		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:94040719G>A	ENST00000440961.2	+	4	637	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	205					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACAGTGGGCGGTGTCTCCAG	0.602																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(592-594)cGg>cAg		folate receptor 4, delta (putative)		G	GLN/ARG	1,4053		0,1,2026	125.0	132.0	130.0		614	-0.8	0.0	11		130	0,8350		0,0,4175	yes	missense	FOLR4	NM_001199206.1	43	0,1,6201	AA,AG,GG		0.0,0.0247,0.0081	benign	205/251	94040719	1,12403	2027	4175	6202	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040719G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.593G>A	11.37:g.94040719G>A	ENSP00000416935:p.Arg198Gln						p.R198Q	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			4	637	+			205						Missense_Mutation	SNP	ENST00000440961.2	37	c.593G>A		.	.	.	.	.	.	.	.	.	.	G	15.03	2.713095	0.48517	2.47E-4	0.0	ENSG00000183560	ENST00000440961	T	0.76968	-1.06	4.33	-0.778	0.10977	.	0.121271	0.56097	N	0.000030	T	0.67325	0.2881	L	0.52823	1.66	0.24072	N	0.995975	P	0.46952	0.887	B	0.40982	0.345	T	0.61287	-0.7093	10	0.36615	T	0.2	-15.3271	8.6191	0.33851	0.4558:0.0:0.5442:0.0	.	198	A6ND01-2	.	Q	198	ENSP00000416935:R198Q	ENSP00000416935:R198Q	R	+	2	0	FOLR4	93680367	0.001000	0.12720	0.002000	0.10522	0.947000	0.59692	0.433000	0.21477	-0.015000	0.14150	-0.327000	0.08410	CGG		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		4	150	0	0	0	1	0	4	150				
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GAAGTGTAACGTCAAGGCCAA	0.592																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1762-1764)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 5							39.0	39.0	39.0					12																	5155075		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155075G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1762G>A	12.37:g.5155075G>A	ENSP00000252321:p.Val588Ile						p.V588I	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1991	+			588					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1762G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		3	27	0	0	0	1	0	3	27				
MAPKBP1	23005	broad.mit.edu	37	15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:42105829C>A	ENST00000456763.2	+	10	1044	c.848C>A	c.(847-849)gCc>gAc	p.A283D	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A277D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(829-831)gCc>gAc		mitogen-activated protein kinase binding protein 1							151.0	133.0	139.0					15																	42105829		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42105829C>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.848C>A	15.37:g.42105829C>A	ENSP00000393099:p.Ala283Asp					MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D	p.A277D	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	9	1116	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	283					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.830C>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.883775	0.91814	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.55052	0.78;0.54;4.98;4.98	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.81802	2.56	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.979;0.954	D;D;D;P	0.91635	0.999;0.951;0.965;0.848	T	0.78140	-0.2320	10	0.72032	D	0.01	-12.4713	19.3199	0.94234	0.0:1.0:0.0:0.0	.	165;277;283;277	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	D	277;165;283;277	ENSP00000397570:A277D;ENSP00000260357:A165D;ENSP00000393099:A283D;ENSP00000426154:A277D	ENSP00000260357:A165D	A	+	2	0	MAPKBP1	39893121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.655000	0.90218	0.651000	0.88453	GCC		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		7	110	1	0	1.6384e-10	1	1.89046e-10	7	110				
LAMA3	3909	broad.mit.edu	37	18	21492720	21492720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:21492720C>T	ENST00000313654.9	+	56	7445	c.7204C>T	c.(7204-7206)Cga>Tga	p.R2402*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2402	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGTCGAAGTCCGACTGCCAAA	0.443																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	GRCh37	CM080430	LAMA3	M		c.(7204-7206)Cga>Tga		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						111.0	109.0	110.0					18																	21492720		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492720C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7204C>T	18.37:g.21492720C>T	ENSP00000324532:p.Arg2402*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*	p.R2402*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			56	7445	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2402			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.7204C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	49	15.781247	0.99845	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7174	0.96129	0.0:1.0:0.0:0.0	.	.	.	.	X	2402;2346;793	.	ENSP00000269217:R793X	R	+	1	2	LAMA3	19746718	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.862000	0.75484	2.653000	0.90120	0.655000	0.94253	CGA		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	86	0	0	0	1	0	8	86				
TNXB	7148	broad.mit.edu	37	6	32010244	32010244	+	Silent	SNP	C	C	G	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	ENST00000375244.3	-	40	12399	c.12198G>C	c.(12196-12198)ggG>ggC	p.G4066G	TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G			P22105	TENX_HUMAN	tenascin XB	4111	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(12196-12198)ggG>ggC		tenascin XB							48.0	46.0	47.0					6																	32010244		1511	2709	4220	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32010244C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12198G>C	6.37:g.32010244C>G						TNXB_ENST00000451343.1_Silent_p.G495G|TNXB_ENST00000375247.2_Silent_p.G4064G	p.G4066G			P22105	TENX_HUMAN			40	12399	-			4111			Fibrinogen C-terminal.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.12198G>C																																																																																					0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	71	0	0	0	1	0	5	71				
ELOVL3	83401	broad.mit.edu	37	10	103986390	103986390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr10:103986390T>C	ENST00000370005.3	+	1	306	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	29					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|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)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATGAGGCCCTTTTTCGAGGA	0.532																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(85-87)Ttt>Ctt		ELOVL fatty acid elongase 3							96.0	81.0	86.0					10																	103986390		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103986390T>C	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.85T>C	10.37:g.103986390T>C	ENSP00000359022:p.Phe29Leu						p.F29L	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	1	306	+		Colorectal(252;0.207)	29					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.85T>C	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320295	0.60634	.	.	ENSG00000119915	ENST00000370005	T	0.20332	2.08	4.62	0.185	0.15096	.	0.296351	0.24674	N	0.036528	T	0.11367	0.0277	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22695	-1.0209	10	0.15952	T	0.53	-3.7028	1.5214	0.02516	0.1643:0.107:0.1697:0.559	.	29	Q9HB03	ELOV3_HUMAN	L	29	ENSP00000359022:F29L	ENSP00000359022:F29L	F	+	1	0	ELOVL3	103976380	0.000000	0.05858	0.316000	0.25252	0.814000	0.46013	-0.012000	0.12699	0.195000	0.20347	0.459000	0.35465	TTT		0.532	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		3	69	0	0	0	1	0	3	69				
CNOT10	25904	broad.mit.edu	37	3	32800949	32800949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.e14-1		CCR4-NOT transcription complex, subunit 10							411.0	411.0	411.0					3																	32800949		2203	4300	6503	SO:0001630	splice_region_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32800949G>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1596-1G>C	3.37:g.32800949G>C						CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site		NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			14	1911	+								B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Splice_Site	SNP	ENST00000328834.5	37		CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477058	0.84640	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT10	32775953	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.543000	0.98089	2.746000	0.94184	0.591000	0.81541	.		0.428	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	Intron	18	491	0	0	0	1	0	18	491				
THNSL2	55258	broad.mit.edu	37	2	88484958	88484958	+	Missense_Mutation	SNP	G	G	A	rs144146961	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:88484958G>A	ENST00000324166.5	+	7	2880	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	397					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCGGTGGCCGTGAACTACCA	0.587													G|||	15	0.00299521	0.0	0.0	5008	,	,		15039	0.0149		0.0	False		,,,				2504	0.0					ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1189-1191)Gtg>Atg		threonine synthase-like 2 (S. cerevisiae)		G	MET/VAL	0,4406		0,0,2203	28.0	32.0	31.0		1189	5.8	1.0	2	dbSNP_134	31	2,8598	2.2+/-6.3	0,2,4298	yes	missense	THNSL2	NM_018271.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	397/485	88484958	2,13004	2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484958G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1189G>A	2.37:g.88484958G>A	ENSP00000327323:p.Val397Met					THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron	p.V397M	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			7	2880	+			397					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1189G>A	CCDS2002.2	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	29.8	5.036978	0.93630	0.0	2.33E-4	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.97114	-4.25;-4.25	5.8	5.8	0.92144	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.194962	0.42548	D	0.000698	D	0.97739	0.9258	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96246	0.9179	10	0.72032	D	0.01	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	397	Q86YJ6	THNS2_HUMAN	M	397	ENSP00000351402:V397M;ENSP00000327323:V397M	ENSP00000327323:V397M	V	+	1	0	THNSL2	88266073	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	6.508000	0.73721	2.741000	0.93983	0.650000	0.86243	GTG		0.587	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		3	19	0	0	0	1	0	3	19				
BBS1	582	broad.mit.edu	37	11	66291013	66291013	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:66291013G>A	ENST00000318312.7	+	10	968	c.917G>A	c.(916-918)aGc>aAc	p.S306N	BBS1_ENST00000455748.2_Missense_Mutation_p.S209N|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.S343N|ZDHHC24_ENST00000526986.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	306					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTGGTGGGCAGCACCCAAGAC	0.597									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1027-1029)aGc>aAc									67.0	64.0	65.0					11																	66291013		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66291013G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.917G>A	11.37:g.66291013G>A	ENSP00000317469:p.Ser306Asn					BBS1_ENST00000318312.7_Missense_Mutation_p.S306N|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S209N	p.S343N							10	1106	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1028G>A	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377842	0.61735	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.60548	0.18;0.18;0.18	5.32	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.52517	0.1739	L	0.46157	1.445	0.80722	D	1	P;P;P;P	0.51351	0.944;0.589;0.589;0.589	B;B;B;B	0.44163	0.443;0.211;0.117;0.164	T	0.55425	-0.8143	9	0.54805	T	0.06	.	11.6576	0.51328	0.0:0.1991:0.8009:0.0	.	209;194;306;343	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	N	343;306;209	ENSP00000398526:S343N;ENSP00000317469:S306N;ENSP00000405764:S209N	ENSP00000317469:S306N	S	+	2	0	BBS1;CTD-3074O7.11	66047589	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.632000	0.61311	1.216000	0.43427	0.655000	0.94253	AGC		0.597	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			3	82	0	0	0	1	0	3	82				
SLC12A4	6560	broad.mit.edu	37	16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	ENST00000316341.3	-	6	778	c.638C>G	c.(637-639)gCa>gGa	p.A213G	SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000422611.2_Missense_Mutation_p.A215G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	213					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(643-645)gCa>gGa		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						140.0	114.0	123.0					16																	67988583		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67988583G>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.638C>G	16.37:g.67988583G>C	ENSP00000318557:p.Ala213Gly					SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G	p.A215G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	5	683	-		Ovarian(137;0.192)	213					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.644C>G	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963158	0.18583	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.39	5.39	0.77823	Amino acid permease domain (1);	0.162071	0.53938	D	0.000049	D	0.93455	0.7912	N	0.02775	-0.495	0.49915	D	0.999834	B;B;B;B;B;B;B	0.14438	0.01;0.005;0.001;0.001;0.002;0.002;0.003	B;B;B;B;B;B;B	0.23150	0.044;0.026;0.003;0.009;0.012;0.012;0.008	D	0.90917	0.4780	10	0.09338	T	0.73	.	14.0894	0.64980	0.0:0.2687:0.7313:0.0	.	215;213;182;165;207;213;213	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	G	215;182;207;213;213	ENSP00000395983:A215G;ENSP00000438334:A182G;ENSP00000445962:A207G;ENSP00000343374:A213G;ENSP00000318557:A213G	ENSP00000318557:A213G	A	-	2	0	SLC12A4	66546084	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.957000	0.49137	2.676000	0.91093	0.655000	0.94253	GCA		0.562	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	86	0	0	0	1	0	5	86				
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-	rs548021046	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		2	4						2	4	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			0							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		3	5						3	5	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	ENST00000331782.3	-	13	2081	c.1678delT	c.(1678-1680)tgcfs	p.C560fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1678-1680)gcfs		jagged 2							105.0	108.0	107.0					14																	105615582		2203	4300	6503	SO:0001589	frameshift_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615582delA	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1678delT	14.37:g.105615582delA	ENSP00000328169:p.Cys560fs					JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	p.C560fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	13	2081	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	560			EGF-like 9.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Frame_Shift_Del	DEL	ENST00000331782.3	37	c.1678delT	CCDS9998.1																																																																																				0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			62	334						62	334	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33261113	33261114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:33261113_33261114insG	ENST00000559047.1	-	5	2787_2788	c.2788_2789insC	c.(2788-2790)cttfs	p.L930fs	FMN1_ENST00000334528.9_Frame_Shift_Ins_p.L707fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.L832fs			Q68DA7	FMN1_HUMAN	formin 1	930	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGAGTTAGGAAgtgggggtggg	0.663																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2119-2121)tccfs		formin 1																																				SO:0001589	frameshift_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261113_33261114insG	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2789dupC	15.37:g.33261114_33261114dupG	ENSP00000454047:p.Leu930fs					FMN1_ENST00000559047.1_Frame_Shift_Ins_p.S930fs|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.S832fs	p.S707fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2118_2119	-		all_lung(180;1.14e-07)	930			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	37	c.2119_2120insC																																																																																					0.663	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		3	6						3	6	---	---	---	---
LRRC59	55379	broad.mit.edu	37	17	48460506	48460508	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr17:48460506_48460508delAGC	ENST00000225972.7	-	7	1000_1002	c.765_767delGCT	c.(763-768)ctgcta>cta	p.255_256LL>L	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	255	Poly-Leu.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CACACCAAATagcagcagcagca	0.606																																						ENST00000225972.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(763-768)cta>ct		leucine rich repeat containing 59																																				SO:0001651	inframe_deletion	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48460506_48460508delAGC	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.765_767delGCT	17.37:g.48460515_48460517delAGC	ENSP00000225972:p.Leu256del						p.LL255del	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		7	1000_1002	-	Breast(11;5.62e-19)		255			Poly-Leu.		B2RE83|D3DTX8|Q9P189	In_Frame_Del	DEL	ENST00000225972.7	37	c.765_767delGCT	CCDS11566.1																																																																																				0.606	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		2	4						2	4	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr21:46911183delC	ENST00000359759.4	+	21	3378	c.3357delC	c.(3355-3357)ggcfs	p.G1119fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3355-3357)ggfs		collagen, type XVIII, alpha 1							19.0	26.0	24.0					21																	46911183		1917	4091	6008	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911183delC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3357delC	21.37:g.46911183delC	ENSP00000352798:p.Gly1119fs					COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs	p.G1119fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3378	+			1119			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3357delC																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			8	89						8	89	---	---	---	---
