#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1432-1434)Tat>Cat		polo-like kinase 3							67.0	75.0	73.0					1																	45270100		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270100T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1432T>C	1.37:g.45270100T>C	ENSP00000361275:p.Tyr478His		Somatic				PLK3_ENST00000465443.1_3'UTR	p.Y478H	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	Q9H4B4	PLK3_HUMAN			12	1671	+	Acute lymphoblastic leukemia(166;0.155)		478			POLO box 1.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1432T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167710	0.78339	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.27256	1.68	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.61515	0.2353	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	9	0.87932	D	0	-9.447	14.6063	0.68481	0.0:0.0:0.0:1.0	.	478	Q9H4B4	PLK3_HUMAN	H	478;453	ENSP00000361275:Y478H	ENSP00000361275:Y478H	Y	+	1	0	PLK3	45042687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.031000	0.88826	2.105000	0.64084	0.529000	0.55759	TAT		0.572	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		27	97	27	97	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G|HECTD3_ENST00000486132.1_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1708-1710)gTa>gGa		HECT domain containing E3 ubiquitin protein ligase 3							66.0	70.0	69.0					1																	45472380		1969	4133	6102	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472380A>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1709T>G	1.37:g.45472380A>C	ENSP00000361245:p.Val570Gly		Somatic				HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	p.V570G	NM_024602.5	NP_078878.3	WXS	Illumina GAIIx	Phase_I	Q5T447	HECD3_HUMAN			13	1780	-	Acute lymphoblastic leukemia(166;0.155)		570			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1709T>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.734106	0.48939	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61510	0.1;0.39	5.3	5.3	0.74995	HECT (3);	0.420057	0.26975	N	0.021556	T	0.58991	0.2161	M	0.71581	2.175	0.58432	D	0.999995	B;P	0.38078	0.44;0.617	B;B	0.36504	0.196;0.226	T	0.66228	-0.5976	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	570;180	Q5T447;Q5T447-2	HECD3_HUMAN;.	G	570;180	ENSP00000361245:V570G;ENSP00000361241:V180G	ENSP00000361241:V180G	V	-	2	0	HECTD3	45244967	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.811000	0.47986	2.220000	0.72140	0.533000	0.62120	GTA		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		12	84	12	84	---	---	---	---
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000528266.1	-	11	1696	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	CCDC17_ENST00000421127.2_Missense_Mutation_p.L508F|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577																																						ENST00000421127.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(1522-1524)Ctt>Ttt		coiled-coil domain containing 17							41.0	39.0	40.0					1																	46086625		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46086625G>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1549C>T	1.37:g.46086625G>A	ENSP00000432172:p.Leu517Phe		Somatic				CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	p.L508F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	WXS	Illumina GAIIx	Phase_I	Q96LX7	CCD17_HUMAN			11	1665	-	Acute lymphoblastic leukemia(166;0.155)		517					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.1522C>T	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152538	0.38021	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.56275	0.47;0.47;0.47	5.81	3.85	0.44370	.	0.623048	0.15559	N	0.256047	T	0.46698	0.1406	L	0.56769	1.78	0.26366	N	0.976977	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.36768	-0.9734	10	0.28530	T	0.3	-1.5311	8.1926	0.31376	0.268:0.0:0.732:0.0	.	517;508;485	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	F	508;485;517	ENSP00000389415:L508F;ENSP00000341451:L485F;ENSP00000432172:L517F	ENSP00000341451:L485F	L	-	1	0	CCDC17	45859212	0.987000	0.35691	0.920000	0.36463	0.547000	0.35210	2.542000	0.45744	0.696000	0.31696	0.655000	0.94253	CTT		0.577	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		5	22	5	22	---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(841-843)cTc>cCc									134.0	130.0	132.0					1																	99767329		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99767329T>C																												ENST00000370185.3:c.842T>C	1.37:g.99767329T>C	ENSP00000359204:p.Leu281Pro		Somatic				LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	p.L281P	NM_014839.4	NP_055654.2	WXS	Illumina GAIIx	Phase_I	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1339	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	281					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.842T>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287470	0.80803	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.77489	-1.1;-1.1	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.286229	0.34802	N	0.003668	T	0.81442	0.4823	L	0.55017	1.72	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.84299	0.0504	10	0.72032	D	0.01	-22.0505	14.5573	0.68109	0.0:0.0:0.0:1.0	.	281	Q7Z2D5	LPPR4_HUMAN	P	281;281;123	ENSP00000359204:L281P;ENSP00000359203:L123P	ENSP00000263178:L281P	L	+	2	0	RP4-788L13.1	99539917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.836000	0.53414	0.402000	0.26972	CTC		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	72	7	72	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000369354.3	-	13	1825	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000529945.1_Silent_p.L709L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2125-2127)Ctg>Ttg		phosphodiesterase 4D interacting protein							234.0	258.0	250.0					1																	144916719		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916719G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1636C>T	1.37:g.144916719G>A			Somatic				PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313431.9_Silent_p.L709L	p.L709L			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2564	-			546					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.2125C>T	CCDS30824.1																																																																																				0.423	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	350	5	350	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAATCTGTTTCTTGATCACA	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8656-8658)gAa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	103.0	110.0					2																	170053462		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170053462T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8657A>T	2.37:g.170053462T>A	ENSP00000263816:p.Glu2886Val		Somatic					p.E2886V	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	8942	-			2886			LDL-receptor class A 20.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8657A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374385	0.42105	.	.	ENSG00000081479	ENST00000263816	D	0.95853	-3.83	6.17	2.43	0.29744	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.325278	0.37219	N	0.002186	D	0.91616	0.7351	L	0.42632	1.34	0.29282	N	0.869933	P	0.45044	0.849	B	0.43990	0.438	D	0.87262	0.2280	10	0.72032	D	0.01	.	3.9578	0.09398	0.0:0.2831:0.4017:0.3152	.	2886	P98164	LRP2_HUMAN	V	2886	ENSP00000263816:E2886V	ENSP00000263816:E2886V	E	-	2	0	LRP2	169761708	0.004000	0.15560	0.011000	0.14972	0.004000	0.04260	0.352000	0.20113	0.526000	0.28541	0.533000	0.62120	GAA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	81	8	81	---	---	---	---
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408																																						ENST00000494481.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(211-213)aGg>aAg		chromosome 3 open reading frame 14							122.0	119.0	120.0					3																	62317034		2203	4300	6503	SO:0001583	missense	57415							g.chr3:62317034G>A	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.212G>A	3.37:g.62317034G>A	ENSP00000418086:p.Arg71Lys		Somatic				C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA	p.R71K			WXS	Illumina GAIIx	Phase_I	Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	5	526	+			71					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.212G>A	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068225	0.36470	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	0.705	0.18127	.	0.320076	0.30969	N	0.008513	T	0.25269	0.0614	N	0.21142	0.635	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18335	-1.0340	9	0.23891	T	0.37	-14.8523	10.5518	0.45092	0.3728:0.0:0.6272:0.0	.	71	Q9HBI5	CC014_HUMAN	K	71	.	ENSP00000232519:R71K	R	+	2	0	C3orf14	62292074	0.028000	0.19301	0.356000	0.25785	0.885000	0.51271	0.448000	0.21726	0.176000	0.19873	0.644000	0.83932	AGG		0.408	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		19	87	19	87	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000514591.1	+	8	1555	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000512091.2_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363																																						ENST00000512091.2																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1225-1227)aTt>aAt		latrophilin 3							128.0	120.0	122.0					4																	62679557		1936	4143	6079	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679557T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1226T>A	4.37:g.62679557T>A	ENSP00000422533:p.Ile409Asn		Somatic				LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N	p.I409N			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			8	1973	+								E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1226T>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877518	0.33162	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.45;-0.45;-0.48;-0.48;-0.45;-0.45;-0.48;-0.48;-0.47;-0.44;-0.44;-0.43;-0.46;-0.46;-0.43	3.67	3.67	0.42095	.	0.534833	0.19481	N	0.113211	T	0.50531	0.1621	N	0.19112	0.55	0.31286	N	0.690009	B;B	0.34147	0.438;0.171	B;B	0.29862	0.108;0.048	T	0.55995	-0.8052	10	0.33141	T	0.24	.	9.0114	0.36144	0.0:0.0:0.0:1.0	.	409;409	E9PE04;Q9HAR2-2	.;.	N	409;409;477;477;409;409;409;409;409;477;477;477;409;409;409;477;477;409	ENSP00000423388:I409N;ENSP00000422533:I409N;ENSP00000423787:I477N;ENSP00000425033:I477N;ENSP00000424120:I409N;ENSP00000439831:I409N;ENSP00000421476:I477N;ENSP00000424030:I477N;ENSP00000421372:I477N;ENSP00000425201:I409N;ENSP00000423434:I409N;ENSP00000421627:I409N;ENSP00000420931:I477N;ENSP00000425884:I477N;ENSP00000424258:I409N	ENSP00000280009:I409N	I	+	2	0	LPHN3	62362152	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.916000	0.48813	1.900000	0.55004	0.460000	0.39030	ATT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	39	10	39	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9793-9795)cgC>cgT		FAT atypical cadherin 2							36.0	31.0	33.0					5																	150911164		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911164G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9795C>T	5.37:g.150911164G>A			Somatic					p.R3265R	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9807	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3265			Cadherin 29.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9795C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890559	0.17613	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.21	-0.635	0.11512	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	.	3.9819	0.09498	0.0763:0.3131:0.3485:0.2621	.	.	.	.	S	124	.	.	P	-	1	0	FAT2	150891357	0.472000	0.25870	0.999000	0.59377	0.764000	0.43329	-0.063000	0.11655	0.199000	0.20427	0.555000	0.69702	CCT		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	40	5	40	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGCAGACTTTTTGAAGGGTC	0.453																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2611-2613)aaA>aaC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						135.0	116.0	123.0					9																	6540103		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540103T>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2613A>C	9.37:g.6540103T>G	ENSP00000370737:p.Lys871Asn		Somatic					p.K871N	NM_000170.2	NP_000161.2	WXS	Illumina GAIIx	Phase_I	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2763	-		Acute lymphoblastic leukemia(23;0.161)	871					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2613A>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532829	0.64972	.	.	ENSG00000178445	ENST00000321612	D	0.86366	-2.11	5.16	1.47	0.22746	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92733	0.6201	10	0.66056	D	0.02	-20.0689	8.5626	0.33520	0.0:0.3814:0.0:0.6186	.	871	P23378	GCSP_HUMAN	N	871	ENSP00000370737:K871N	ENSP00000370737:K871N	K	-	3	2	GLDC	6530103	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.504000	0.22626	0.348000	0.23949	0.482000	0.46254	AAA		0.453	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		26	93	26	93	---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	rs372395438	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													A|||	2	0.000399361	0.0015	0.0	5008	,	,		21066	0.0		0.0	False		,,,				2504	0.0					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(529-531)cAt>cGt		zinc finger protein 485		A	ARG/HIS	0,4406		0,0,2203	106.0	103.0	104.0		530	-1.5	0.1	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	177/442	44112021	1,13005	2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112021A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.530A>G	10.37:g.44112021A>G	ENSP00000354694:p.His177Arg		Somatic				ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	p.H177R	NM_145312.3	NP_660355.2	WXS	Illumina GAIIx	Phase_I	Q8NCK3	ZN485_HUMAN			5	724	+			177					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.530A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303305	0.05495	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07114	3.22;3.22;3.22	2.52	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02142	-0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.15052	0.012	T	0.41556	-0.9502	9	0.46703	T	0.11	.	3.0456	0.06152	0.5725:0.0:0.2434:0.1841	.	177	Q8NCK3	ZN485_HUMAN	R	177;86;177	ENSP00000354694:H177R;ENSP00000363560:H86R;ENSP00000363558:H177R	ENSP00000354694:H177R	H	+	2	0	ZNF485	43432027	0.000000	0.05858	0.134000	0.22075	0.075000	0.17131	-0.565000	0.05929	-0.363000	0.08101	-0.609000	0.04063	CAT		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		18	84	18	84	---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1486-1488)gAg>gGg		hexokinase domain containing 1							43.0	43.0	43.0					10																	71008401		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008401A>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1487A>G	10.37:g.71008401A>G	ENSP00000346643:p.Glu496Gly		Somatic				HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	p.E496G	NM_025130.3	NP_079406	WXS	Illumina GAIIx	Phase_I	Q2TB90	HKDC1_HUMAN			10	1620	+			496					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1487A>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108720	0.56291	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.85	4.85	0.62838	Hexokinase, N-terminal (1);	0.050425	0.85682	D	0.000000	D	0.97561	0.9201	M	0.84219	2.685	0.58432	D	0.999991	B	0.09022	0.002	B	0.20184	0.028	D	0.96788	0.9580	10	0.56958	D	0.05	-23.7884	14.2445	0.65978	1.0:0.0:0.0:0.0	.	496	Q2TB90	HKDC1_HUMAN	G	496	ENSP00000346643:E496G;ENSP00000378521:E496G	ENSP00000346643:E496G	E	+	2	0	HKDC1	70678407	1.000000	0.71417	0.530000	0.27963	0.765000	0.43378	7.237000	0.78164	2.031000	0.59945	0.379000	0.24179	GAG		0.657	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	37	4	37	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87407079	87407079	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2071-2073)ttC>ttT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						275.0	257.0	263.0					10																	87407079		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407079G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2073C>T	10.37:g.87407079G>A		Multiple Myeloma(13;0.14)	Somatic				GRID1_ENST00000536331.1_Silent_p.F262F|RP11-93H12.4_ENST00000474115.2_RNA	p.F691F	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			13	2158	-			691					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2073C>T	CCDS31236.1																																																																																				0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		8	331	8	331	---	---	---	---
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(988-990)gcC>gcT		interferon-induced protein with tetratricopeptide repeats 5							151.0	142.0	145.0					10																	91177946		2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177946C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.990C>T	10.37:g.91177946C>T			Somatic				IFIT5_ENST00000416601.1_Silent_p.A282A	p.A330A	NM_012420.2	NP_036552.1	WXS	Illumina GAIIx	Phase_I	Q13325	IFIT5_HUMAN			2	1203	+			330					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.990C>T	CCDS7403.1																																																																																				0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		31	159	31	159	---	---	---	---
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(904-906)gtA>gtG		paired-like homeodomain 3							18.0	20.0	19.0					10																	103990274		2196	4298	6494	SO:0001819	synonymous_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990274T>C		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.906A>G	10.37:g.103990274T>C			Somatic				PITX3_ENST00000539804.1_Silent_p.V302V	p.V302V	NM_005029.3	NP_005020.1	WXS	Illumina GAIIx	Phase_I	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	1059	-		Colorectal(252;0.00957)	302					Q5VZL2	Silent	SNP	ENST00000370002.3	37	c.906A>G	CCDS7532.1																																																																																				0.667	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	21	3	21	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	rs376554144		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532																																						ENST00000300747.5																			1	Substitution - Missense(1)	p.R83H(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(247-249)cGt>cAt		tripartite motif containing 68		C	HIS/ARG	0,4402		0,0,2201	165.0	147.0	153.0		248	2.8	0.4	11		153	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRIM68	NM_018073.5	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	83/486	4626487	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626487C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.248G>A	11.37:g.4626487C>T	ENSP00000300747:p.Arg83His		Somatic					p.R83H	NM_018073.6	NP_060543.5	WXS	Illumina GAIIx	Phase_I	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	537	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	83					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.248G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005997	0.35415	0.0	1.16E-4	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84730	-1.89;-1.89	4.7	2.82	0.32997	Zinc finger, RING/FYVE/PHD-type (1);	0.600314	0.15089	N	0.281169	D	0.85504	0.5712	M	0.86740	2.835	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.15870	0.006;0.014	T	0.78595	-0.2143	10	0.72032	D	0.01	.	9.4959	0.38989	0.0:0.8185:0.0:0.1815	.	83;83	E9PR29;Q6AZZ1	.;TRI68_HUMAN	H	83	ENSP00000300747:R83H;ENSP00000436112:R83H	ENSP00000300747:R83H	R	-	2	0	TRIM68	4583063	0.000000	0.05858	0.356000	0.25785	0.948000	0.59901	0.605000	0.24179	0.663000	0.31027	0.549000	0.68633	CGT		0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	151	31	151	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T	rs182825786		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000585732.1_Silent_p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(418-420)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 4							103.0	120.0	114.0					12																	2022195		2133	4246	6379	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022195C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.420G>A	12.37:g.2022195C>T			Somatic				CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	p.A140A	NM_172364.4	NP_758952.4	WXS	Illumina GAIIx	Phase_I	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	782	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	140					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.420G>A	CCDS44785.1																																																																																				0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	30	8	30	---	---	---	---
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000313182.2_Silent_p.L450L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	450																	TCAGCAGGTCCAGGAAACCAA	0.527																																						ENST00000395644.4																			0											c.(1348-1350)ctG>ctC		von Willebrand factor A domain containing 9							59.0	52.0	55.0					15																	65871953		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871953C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1350G>C	15.37:g.65871953C>G			Somatic				VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000313182.2_Silent_p.L450L	p.L450L			WXS	Illumina GAIIx	Phase_I					12	1685	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1350G>C																																																																																					0.527	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		5	42	5	42	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9118-9120)acA>acT		mucin 16, cell surface associated							113.0	112.0	113.0					19																	9082695		1999	4182	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082695T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9120A>T	19.37:g.9082695T>A			Somatic					p.T3040T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	9323	-			3041			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9120A>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	72	8	72	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1678-1680)Ggt>Agt		tRNA methyltransferase 1 homolog (S. cerevisiae)							60.0	72.0	68.0					19																	13216326		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216326C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1678G>A	19.37:g.13216326C>T	ENSP00000466967:p.Gly560Ser		Somatic				TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S	p.G560S			WXS	Illumina GAIIx	Phase_I	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	16	2248	-			560					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1678G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126108	0.94429	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.07444	3.19;3.19;3.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46484	-0.9188	10	0.87932	D	0	-19.969	14.7899	0.69833	0.0:1.0:0.0:0.0	.	531;560	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	S	560;560;531	ENSP00000350352:G560S;ENSP00000416149:G560S;ENSP00000221504:G531S	ENSP00000221504:G531S	G	-	1	0	TRMT1	13077326	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.881000	0.75584	2.368000	0.80403	0.561000	0.74099	GGT		0.657	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		21	143	21	143	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	ACPT_ENST00000270594.3_Splice_Site_p.G236E|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(985-987)gGg>gAg		acid phosphatase, testicular							39.0	39.0	39.0					19																	51297838		2203	4300	6503	SO:0001630	splice_region_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51297838G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.986+1G>A	19.37:g.51297838G>A			Somatic				ACPT_ENST00000270594.3_Splice_Site_p.G236E	p.G329E	NM_033068.2	NP_149059.1	WXS	Illumina GAIIx	Phase_I	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	9	986	+		all_neural(266;0.057)	329					C0H3P7|Q9BZG3|Q9BZG4	Splice_Site	SNP	ENST00000270593.1	37	c.986G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371379	0.42003	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.78126	2.21;-1.15	3.9	1.75	0.24633	.	0.000000	0.64402	D	0.000001	T	0.68696	0.3029	L	0.45581	1.43	0.31455	N	0.67027	B	0.18968	0.032	B	0.26202	0.067	T	0.69639	-0.5091	10	0.87932	D	0	-23.9614	7.2699	0.26250	0.2391:0.0:0.7609:0.0	.	329	Q9BZG2	PPAT_HUMAN	E	329;236	ENSP00000270593:G329E;ENSP00000270594:G236E	ENSP00000270593:G329E	G	+	2	0	ACPT	55989650	1.000000	0.71417	0.991000	0.47740	0.137000	0.21094	2.697000	0.47060	0.983000	0.38602	0.561000	0.74099	GGG		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	Missense_Mutation	4	35	4	35	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000316219.5	-	10	1629	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000450632.1_Missense_Mutation_p.G500S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1498-1500)Ggc>Agc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							120.0	112.0	114.0					19																	54756362		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756362C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1522G>A	19.37:g.54756362C>T	ENSP00000320390:p.Gly508Ser		Somatic				LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S	p.G500S			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1575	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		508					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1498G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727693	0.30593	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00475	7.24;7.16;7.23;7.2	2.08	0.986	0.19784	.	.	.	.	.	T	0.00440	0.0014	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31274	0.256;0.317;0.012;0.011	B;B;B;B	0.28232	0.062;0.087;0.007;0.004	T	0.42258	-0.9462	9	0.62326	D	0.03	.	3.9515	0.09371	0.0:0.7554:0.0:0.2446	.	500;409;509;508	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	508;500;509;409	ENSP00000320390:G508S;ENSP00000414225:G500S;ENSP00000406478:G509S;ENSP00000263430:G409S	ENSP00000320390:G508S	G	-	1	0	LILRB5	59448174	0.080000	0.21391	0.002000	0.10522	0.001000	0.01503	0.479000	0.22228	0.373000	0.24621	0.585000	0.79938	GGC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			27	89	27	89	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1537-1539)aaT>aaA		acidic repeat containing							58.0	52.0	54.0					X																	70828895		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70828895T>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1539T>A	X.37:g.70828895T>A	ENSP00000362799:p.Asn513Lys		Somatic				ACRC_ENST00000373696.3_Missense_Mutation_p.N513K	p.N513K			WXS	Illumina GAIIx	Phase_I	Q96QF7	ACRC_HUMAN			9	2076	+	Renal(35;0.156)		513			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1539T>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	t	9.406	1.079303	0.20227	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30182	1.54;1.54	4.83	-9.65	0.00537	.	.	.	.	.	T	0.17450	0.0419	L	0.35723	1.085	0.09310	N	1	B	0.22683	0.073	B	0.26094	0.066	T	0.13229	-1.0517	9	0.32370	T	0.25	.	4.9482	0.14000	0.3324:0.0771:0.4694:0.1211	.	513	Q96QF7	ACRC_HUMAN	K	513	ENSP00000362800:N513K;ENSP00000362799:N513K	ENSP00000362799:N513K	N	+	3	2	ACRC	70745620	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	-1.808000	0.01732	-3.330000	0.00186	-2.299000	0.00261	AAT		0.363	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			12	15	12	15	---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(1192-1194)Gtg>Atg		autophagy related 4A, cysteine peptidase							148.0	140.0	143.0					X																	107396937		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107396937G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.1192G>A	X.37:g.107396937G>A	ENSP00000361306:p.Val398Met		Somatic				ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	p.V398M	NM_052936.3	NP_443168.2	WXS	Illumina GAIIx	Phase_I	Q8WYN0	ATG4A_HUMAN			13	1351	+			398					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.1192G>A	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655520	0.29425	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696	T;T;T;T	0.51325	0.71;0.71;0.73;0.73	6.08	1.61	0.23674	.	0.275715	0.34652	N	0.003797	T	0.29652	0.0740	N	0.12182	0.205	0.29053	N	0.884376	B;B;B	0.25441	0.126;0.126;0.014	B;B;B	0.30646	0.118;0.118;0.014	T	0.22312	-1.0220	10	0.39692	T	0.17	-3.027	11.4259	0.50009	0.29:0.0:0.71:0.0	.	259;336;398	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	M	398;336;374;259	ENSP00000361306:V398M;ENSP00000298131:V336M;ENSP00000361328:V374M;ENSP00000438936:V259M	ENSP00000298131:V336M	V	+	1	0	ATG4A	107283593	0.997000	0.39634	0.051000	0.19133	0.960000	0.62799	1.883000	0.39658	0.229000	0.21039	0.600000	0.82982	GTG		0.393	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		6	69	6	69	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(946-948)Cag>Gag		PAS domain containing 1							106.0	90.0	96.0					X																	150832695		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832695C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.946C>G	X.37:g.150832695C>G	ENSP00000359382:p.Gln316Glu		Somatic					p.Q316E	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	Q8IV76	PASD1_HUMAN			11	1191	+	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.946C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901908	0.17760	.	.	ENSG00000166049	ENST00000370357	T	0.68479	-0.33	3.04	-3.68	0.04463	.	.	.	.	.	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.17258	-1.0375	9	0.21540	T	0.41	.	1.5897	0.02651	0.1254:0.3453:0.1699:0.3595	.	316	Q8IV76	PASD1_HUMAN	E	316	ENSP00000359382:Q316E	ENSP00000359382:Q316E	Q	+	1	0	PASD1	150583351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.406000	0.02490	-1.294000	0.02360	-0.312000	0.09012	CAG		0.587	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		21	45	21	45	---	---	---	---
N4BP2L1	90634	broad.mit.edu	37	13	32972737	32972738	+	IGR	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.I3363fs|BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAACAATTTATATCTGTCAGT	0.381																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(10087-10089)atafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972737_32972738insT	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972738_32972738dupT		TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	p.I3363fs	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10314_10315	+		Lung SC(185;0.0262)	3363					A4QN21|Q5TBK0	Frame_Shift_Ins	INS	ENST00000380130.2	37	c.10087_10088insT	CCDS9345.2																																																																																				0.381	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		14	63	14	63	---	---	---	---
