#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
TRIM71	131405	broad.mit.edu	37	3	32932914	32932914	+	Missense_Mutation	SNP	G	G	A	rs373995975		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:32932914G>A	ENST00000383763.5	+	4	2281	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	740					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTATGGCTTCGAGGGGGCTCT	0.572																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2218-2220)Gag>Aag		tripartite motif containing 71, E3 ubiquitin protein ligase		G	LYS/GLU	0,3862		0,0,1931	32.0	34.0	34.0		2218	6.0	1.0	3		34	1,8287		0,1,4143	no	missense	TRIM71	NM_001039111.1	56	0,1,6074	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	740/869	32932914	1,12149	1931	4144	6075	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932914G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2218G>A	3.37:g.32932914G>A	ENSP00000373272:p.Glu740Lys						p.E740K	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2281	+			740						Missense_Mutation	SNP	ENST00000383763.5	37	c.2218G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608418	0.87258	0.0	1.21E-4	ENSG00000206557	ENST00000383763	D	0.90261	-2.64	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	L	0.28400	0.85	0.80722	D	1	P	0.47762	0.9	B	0.37550	0.253	T	0.82888	-0.0234	10	0.19147	T	0.46	-48.6853	18.9593	0.92671	0.0:0.0:1.0:0.0	.	740	Q2Q1W2	LIN41_HUMAN	K	740	ENSP00000373272:E740K	ENSP00000373272:E740K	E	+	1	0	TRIM71	32907918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.830000	0.97506	0.655000	0.94253	GAG		0.572	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		8	15	0	0	0	1	0	8	15				
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:54314478C>T	ENST00000324134.6	-	3	603	c.435G>A	c.(433-435)gcG>gcA	p.A145A	NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567																																						ENST00000324134.6																			1	Substitution - coding silent(1)	p.A145A(1)	lung(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(433-435)gcG>gcA		NLR family, pyrin domain containing 12							91.0	88.0	89.0					19																	54314478		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314478C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.435G>A	19.37:g.54314478C>T						NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A	p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	603	-	Ovarian(34;0.19)		145					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.435G>A	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		38	9	0	0	0	1	0	38	9				
AKAP14	158798	broad.mit.edu	37	X	119037475	119037475	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:119037475A>T	ENST00000371431.3	+	4	461	c.187A>T	c.(187-189)Aaa>Taa	p.K63*	AKAP14_ENST00000371425.4_Nonsense_Mutation_p.K63*|AKAP14_ENST00000394594.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000334356.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371422.1_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371423.2_Nonsense_Mutation_p.K63*	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	63					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AAACCCTTTGAAAAACATCAA	0.403																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(187-189)Aaa>Taa		A kinase (PRKA) anchor protein 14							96.0	78.0	84.0					X																	119037475		2203	4300	6503	SO:0001587	stop_gained	158798					cytoplasm		g.chrX:119037475A>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.187A>T	X.37:g.119037475A>T	ENSP00000360485:p.Lys63*					AKAP14_ENST00000334356.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371425.4_Nonsense_Mutation_p.K63*|AKAP14_ENST00000394594.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371422.1_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371423.2_Nonsense_Mutation_p.K63*	p.K63*	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			4	461	+			63					A6NNZ0|Q86UN4|Q86UN5	Nonsense_Mutation	SNP	ENST00000371431.3	37	c.187A>T	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277943	0.40294	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000394594;ENST00000371422;ENST00000334356	.	.	.	3.9	3.9	0.45041	.	0.375026	0.25648	N	0.029231	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7913	8.2526	0.31735	1.0:0.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000334680:K63X	K	+	1	0	AKAP14	118921503	0.969000	0.33509	0.075000	0.20258	0.012000	0.07955	3.342000	0.52159	1.766000	0.52107	0.486000	0.48141	AAA		0.403	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		21	32	0	0	0	1	0	21	32				
ARL13B	200894	broad.mit.edu	37	3	93761891	93761891	+	Missense_Mutation	SNP	C	C	A	rs139997243	byFrequency	TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:93761891C>A	ENST00000394222.3	+	7	1106	c.831C>A	c.(829-831)aaC>aaA	p.N277K	ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.N170K|ARL13B_ENST00000535334.1_Missense_Mutation_p.N174K|ARL13B_ENST00000471138.1_Missense_Mutation_p.N277K	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	277					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AGAAAAAAAACCAAAAAATGG	0.333													G|||	7	0.00139776	0.0008	0.0	5008	,	,		15248	0.003		0.002	False		,,,				2504	0.001					ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(520-522)aaC>aaA		ADP-ribosylation factor-like 13B		G	LYS/ASN,LYS/ASN,LYS/ASN,LYS/ASN	2,4400		1,0,2200	47.0	48.0	48.0		831,522,510,831	2.4	0.8	3	dbSNP_134	48	0,8594		0,0,4297	yes	missense,missense,missense,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	94,94,94,94	1,0,6497	AA,AC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	277/429,174/326,170/322,277/429	93761891	2,12994	2201	4297	6498	SO:0001583	missense	200894						GTP binding	g.chr3:93761891C>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.831C>A	3.37:g.93761891C>A	ENSP00000377769:p.Asn277Lys					ARL13B_ENST00000471138.1_Missense_Mutation_p.N277K|ARL13B_ENST00000394222.3_Missense_Mutation_p.N277K|ARL13B_ENST00000303097.7_Missense_Mutation_p.N170K|ARL13B_ENST00000539730.1_5'UTR	p.N174K	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN			6	1045	+			277					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.522C>A	CCDS2925.1	3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	G	0.001	-3.453603	0.00012	4.54E-4	0.0	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	T;T;T;T	0.60797	1.98;0.16;0.35;0.35	5.2	2.44	0.29823	.	0.484213	0.22744	N	0.056172	T	0.15825	0.0381	N	0.00368	-1.59	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28996	-1.0026	10	0.02654	T	1	-0.3572	5.8503	0.18689	0.2288:0.1383:0.6329:0.0	.	174;277;170;277	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	K	174;170;277;277	ENSP00000445145:N174K;ENSP00000306225:N170K;ENSP00000377769:N277K;ENSP00000420780:N277K	ENSP00000306225:N170K	N	+	3	2	ARL13B	95244581	0.996000	0.38824	0.849000	0.33467	0.196000	0.23810	0.190000	0.17057	0.053000	0.16036	-0.215000	0.12644	AAC		0.333	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		6	13	1	0	3.59834e-05	1	3.59834e-05	6	13				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	52	1	0	3.59834e-05	1	3.59834e-05	4	52				
SLC17A4	10050	broad.mit.edu	37	6	25771175	25771175	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:25771175T>A	ENST00000377905.4	+	6	760	c.641T>A	c.(640-642)aTt>aAt	p.I214N	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	214					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGTCCTTCATTGTTCTACTT	0.478																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(640-642)aTt>aAt		solute carrier family 17, member 4							318.0	296.0	303.0					6																	25771175		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25771175T>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.641T>A	6.37:g.25771175T>A	ENSP00000367137:p.Ile214Asn					SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	p.I214N	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			6	760	+			214					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.641T>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006862	0.35415	.	.	ENSG00000146039	ENST00000377905	T	0.62364	0.03	5.52	1.61	0.23674	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.238580	0.05787	N	0.609654	T	0.59582	0.2204	M	0.90595	3.13	0.09310	N	1	B	0.27823	0.19	B	0.42361	0.385	T	0.62091	-0.6927	10	0.87932	D	0	.	3.6261	0.08113	0.1584:0.1935:0.0:0.6481	.	214	Q9Y2C5	S17A4_HUMAN	N	214	ENSP00000367137:I214N	ENSP00000367137:I214N	I	+	2	0	SLC17A4	25879154	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.767000	0.26575	0.098000	0.17522	-0.250000	0.11733	ATT		0.478	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			100	102	0	0	0	1	0	100	102				
ADAM23	8745	broad.mit.edu	37	2	207422173	207422173	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:207422173A>T	ENST00000264377.3	+	10	1284	c.956A>T	c.(955-957)cAt>cTt	p.H319L	ADAM23_ENST00000374415.3_Missense_Mutation_p.H319L|ADAM23_ENST00000374416.1_Missense_Mutation_p.H319L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CGCTCTTCTCATGCACATACC	0.378																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(955-957)cAt>cTt		ADAM metallopeptidase domain 23							244.0	223.0	230.0					2																	207422173		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207422173A>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.956A>T	2.37:g.207422173A>T	ENSP00000264377:p.His319Leu					ADAM23_ENST00000374415.3_Missense_Mutation_p.H319L|ADAM23_ENST00000374416.1_Missense_Mutation_p.H319L	p.H319L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	10	1284	+			319			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.956A>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632143	0.29068	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.07688	3.17;3.17;3.17	5.83	3.39	0.38822	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.300127	0.28700	N	0.014440	T	0.03178	0.0093	N	0.03268	-0.37	0.38272	D	0.942172	B	0.15719	0.014	B	0.25759	0.063	T	0.38112	-0.9676	10	0.02654	T	1	.	8.9413	0.35731	0.6388:0.2444:0.0:0.1168	.	319	O75077	ADA23_HUMAN	L	319;319;213;319	ENSP00000264377:H319L;ENSP00000363537:H319L;ENSP00000363536:H319L	ENSP00000264377:H319L	H	+	2	0	ADAM23	207130418	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	2.787000	0.47798	0.437000	0.26423	-0.316000	0.08728	CAT		0.378	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		75	85	0	0	0	1	0	75	85				
VANGL2	57216	broad.mit.edu	37	1	160385688	160385688	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr1:160385688C>T	ENST00000368061.2	+	2	535	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	21					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGCAGCTCCCGCAAGCACAG	0.657																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(61-63)Cgc>Tgc		VANGL planar cell polarity protein 2							28.0	31.0	30.0					1																	160385688		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385688C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.61C>T	1.37:g.160385688C>T	ENSP00000357040:p.Arg21Cys						p.R21C	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	535	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		21					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.61C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570815	0.28003	.	.	ENSG00000162738	ENST00000368061	D	0.81499	-1.5	4.22	2.32	0.28847	.	0.000000	0.64402	D	0.000001	T	0.79387	0.4437	L	0.53249	1.67	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.79431	-0.1806	10	0.87932	D	0	-20.3118	6.794	0.23715	0.1744:0.729:0.0:0.0966	.	21	Q9ULK5	VANG2_HUMAN	C	21	ENSP00000357040:R21C	ENSP00000357040:R21C	R	+	1	0	VANGL2	158652312	1.000000	0.71417	0.999000	0.59377	0.163000	0.22366	3.560000	0.53763	0.413000	0.25759	-0.382000	0.06688	CGC		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		4	25	0	0	0	1	0	4	25				
INPPL1	3636	broad.mit.edu	37	11	71949150	71949150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:71949150G>A	ENST00000298229.2	+	27	3821	c.3617G>A	c.(3616-3618)cGg>cAg	p.R1206Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.R964Q|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Missense_Mutation_p.R964Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1206	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTGGCTGCGGGCCATCGGC	0.701											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3616-3618)cGg>cAg		inositol polyphosphate phosphatase-like 1							19.0	20.0	20.0					11																	71949150		2198	4286	6484	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949150G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3617G>A	11.37:g.71949150G>A	ENSP00000298229:p.Arg1206Gln		OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_ENST00000538751.1_Missense_Mutation_p.R964Q|INPPL1_ENST00000541756.1_Missense_Mutation_p.R964Q	p.R1206Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			27	3821	+			1206			SAM.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3617G>A	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.35|13.35	2.210222|2.210222	0.39003|0.39003	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000320683|ENST00000298229;ENST00000541756;ENST00000538751	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	4.84|4.84	3.93|3.93	0.45458|0.45458	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	.|0.090906	.|0.45126	.|D	.|0.000395	T|T	0.25717|0.25717	0.0626|0.0626	N|N	0.11427|0.11427	0.14|0.14	0.31774|0.31774	N|N	0.631753|0.631753	.|B	.|0.20671	.|0.047	.|B	.|0.12156	.|0.007	T|T	0.21484|0.21484	-1.0244|-1.0244	5|10	.|0.17832	.|T	.|0.49	.|.	10.846|10.846	0.46743|0.46743	0.0916:0.0:0.9084:0.0|0.0916:0.0:0.9084:0.0	.|.	.|1206	.|O15357	.|SHIP2_HUMAN	R|Q	68|1206;964;964	.|ENSP00000298229:R1206Q;ENSP00000446360:R964Q;ENSP00000444619:R964Q	.|ENSP00000298229:R1206Q	G|R	+|+	1|2	0|0	INPPL1|INPPL1	71626798|71626798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.170000|5.170000	0.64990|0.64990	1.262000|1.262000	0.44165|0.44165	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.701	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		5	14	0	0	0	1	0	5	14				
MBTPS2	51360	broad.mit.edu	37	X	21871590	21871590	+	Silent	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:21871590G>A	ENST00000379484.5	+	5	738	c.639G>A	c.(637-639)tcG>tcA	p.S213S	MBTPS2_ENST00000365779.2_Silent_p.S213S|YY2_ENST00000429584.2_5'Flank|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	213					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						AACTTATATCGCCAGTCCAGC	0.348													G|||	1	0.000264901	0.0	0.0	3775	,	,		9792	0.0		0.0	False		,,,				2504	0.001					ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(637-639)tcG>tcA		membrane-bound transcription factor peptidase, site 2							171.0	163.0	166.0					X																	21871590		2203	4300	6503	SO:0001819	synonymous_variant	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21871590G>A	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.639G>A	X.37:g.21871590G>A						MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Silent_p.S213S	p.S213S			O43462	MBTP2_HUMAN			5	720	+			213					Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	c.639G>A	CCDS14201.1																																																																																				0.348	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			20	199	0	0	0	1	0	20	199				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	37	0	0	0	1	0	16	37				
ARID1B	57492	broad.mit.edu	37	6	157525120	157525120	+	Missense_Mutation	SNP	A	A	G	rs140177120		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:157525120A>G	ENST00000350026.5	+	18	4977	c.4976A>G	c.(4975-4977)aAt>aGt	p.N1659S	ARID1B_ENST00000346085.5_Missense_Mutation_p.N1672S|ARID1B_ENST00000275248.4_Missense_Mutation_p.N1654S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1712S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1659			N -> S. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTACTTTCAATCTCTCCCAG	0.428													A|||	1	0.000199681	0.0	0.0014	5008	,	,		23390	0.0		0.0	False		,,,				2504	0.0					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5014-5016)aAt>aGt		AT rich interactive domain 1B (SWI1-like)		A	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	324.0	323.0	324.0		4976,5015	3.2	1.0	6	dbSNP_134	324	13,8579	9.8+/-36.6	1,11,4284	yes	missense,missense	ARID1B	NM_017519.2,NM_020732.3	46,46	1,12,6486	GG,GA,AA		0.1513,0.0227,0.1077	benign,benign	1659/2237,1672/2250	157525120	14,12984	2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525120A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4976A>G	6.37:g.157525120A>G	ENSP00000055163:p.Asn1659Ser					ARID1B_ENST00000275248.4_Missense_Mutation_p.N1654S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1712S|ARID1B_ENST00000350026.5_Missense_Mutation_p.N1659S	p.N1672S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5016	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1659					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5015A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733800	0.30684	2.27E-4	0.001513	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02067	4.79;4.8;4.77;4.78;4.47	5.63	3.2	0.36748	.	0.185245	0.56097	N	0.000023	T	0.01222	0.0040	L	0.57536	1.79	0.36668	D	0.878349	B;B;B	0.18310	0.016;0.027;0.027	B;B;B	0.16289	0.007;0.015;0.015	T	0.42816	-0.9429	10	0.54805	T	0.06	.	9.5655	0.39396	0.8527:0.0:0.1473:0.0	.	1659;1672;1654	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	S	1672;1659;1712;1654;1181	ENSP00000344546:N1672S;ENSP00000055163:N1659S;ENSP00000356116:N1712S;ENSP00000275248:N1654S;ENSP00000412835:N1181S	ENSP00000275248:N1654S	N	+	2	0	ARID1B	157566812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.633000	0.54295	0.402000	0.25451	0.533000	0.62120	AAT		0.428	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		94	124	0	0	0	1	0	94	124				
DSEL	92126	broad.mit.edu	37	18	65179104	65179104	+	Silent	SNP	C	C	T			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr18:65179104C>T	ENST00000310045.7	-	2	4245	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACGAAAATGCCCACTGCGGA	0.438																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2770-2772)ggG>ggA		dermatan sulfate epimerase-like							76.0	77.0	77.0					18																	65179104		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179104C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2772G>A	18.37:g.65179104C>T						CTD-2541J13.2_ENST00000583493.1_RNA	p.G924G	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4245	-		Esophageal squamous(42;0.129)	914					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.2772G>A	CCDS11995.1																																																																																				0.438	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		4	65	0	0	0	1	0	4	65				
CENPJ	55835	broad.mit.edu	37	13	25478133	25478133	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:25478133T>G	ENST00000381884.4	-	8	2941	c.2756A>C	c.(2755-2757)aAg>aCg	p.K919T	CENPJ_ENST00000545981.1_Missense_Mutation_p.K919T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	919					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGCTTTAAACTTTTCTATTTC	0.363																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2755-2757)aAg>aCg		centromere protein J							186.0	176.0	179.0					13																	25478133		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25478133T>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2756A>C	13.37:g.25478133T>G	ENSP00000371308:p.Lys919Thr					CENPJ_ENST00000545981.1_Missense_Mutation_p.K919T	p.K919T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	8	2941	-		Lung SC(185;0.0225)|Breast(139;0.0602)	919					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2756A>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181974	0.78677	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.35605	1.3;1.88	6.03	4.9	0.64082	.	0.049901	0.85682	D	0.000000	T	0.38532	0.1044	L	0.49513	1.565	0.39801	D	0.972563	D	0.63880	0.993	P	0.56343	0.796	T	0.38394	-0.9663	10	0.16420	T	0.52	.	4.0895	0.09963	0.0:0.2646:0.0:0.7354	.	919	Q9HC77	CENPJ_HUMAN	T	919	ENSP00000371308:K919T;ENSP00000441090:K919T	ENSP00000371308:K919T	K	-	2	0	CENPJ	24376133	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.369000	0.59511	2.302000	0.77476	0.533000	0.62120	AAG		0.363	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		53	67	0	0	0	1	0	53	67				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	54	0	0	0	1	0	4	54				
TCF20	6942	broad.mit.edu	37	22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1603-1605)Cgg>Tgg		transcription factor 20 (AR1)							138.0	140.0	139.0					22																	42609709		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609709G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1603C>T	22.37:g.42609709G>A	ENSP00000352463:p.Arg535Trp					TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1739	-			535					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1603C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657916	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.38401	1.14;1.14	6.17	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.38200	-0.9672	10	0.56958	D	0.05	-23.6904	13.0614	0.59010	0.0:0.0:0.2872:0.7128	.	535;535	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	535	ENSP00000352463:R535W;ENSP00000335561:R535W	ENSP00000335561:R535W	R	-	1	2	TCF20	40939653	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.364000	0.44187	0.574000	0.29417	0.655000	0.94253	CGG		0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	224	0	0	0	1	0	4	224				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	51	0	0	0	1	0	4	51				
IL2RB	3560	broad.mit.edu	37	22	37524753	37524753	+	Missense_Mutation	SNP	C	C	T	rs532394331		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:37524753C>T	ENST00000216223.5	-	10	1237	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	347					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTAAGGATGCGGGCTCAGGC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18819	0.0		0.0	False		,,,				2504	0.0					ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1039-1041)Gca>Aca		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						76.0	66.0	69.0					22																	37524753		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524753C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1039G>A	22.37:g.37524753C>T	ENSP00000216223:p.Ala347Thr						p.A347T	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1237	-			347					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1039G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943311	0.18281	.	.	ENSG00000100385	ENST00000216223	T	0.09073	3.02	4.64	-9.28	0.00656	.	2.336360	0.01411	N	0.014001	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.17098	0.017	T	0.33317	-0.9873	10	0.19590	T	0.45	-0.0417	3.0415	0.06140	0.1585:0.215:0.4163:0.2102	.	347	P14784	IL2RB_HUMAN	T	347	ENSP00000216223:A347T	ENSP00000216223:A347T	A	-	1	0	IL2RB	35854699	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.733000	0.04898	-2.334000	0.00630	-4.396000	0.00006	GCA		0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			3	49	0	0	0	1	0	3	49				
EPHA1	2041	broad.mit.edu	37	7	143096028	143096028	+	Silent	SNP	C	C	T	rs373641317		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr7:143096028C>T	ENST00000275815.3	-	6	1088	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	334	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGGGCCGAGGGGGGAC	0.632																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1000-1002)tcG>tcA		EPH receptor A1		C		0,4386		0,0,2193	9.0	10.0	10.0		1002	-10.2	0.0	7		10	3,8569		0,3,4283	no	coding-synonymous	EPHA1	NM_005232.4		0,3,6476	TT,TC,CC		0.035,0.0,0.0232		334/977	143096028	3,12955	2193	4286	6479	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096028C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1002G>A	7.37:g.143096028C>T							p.S334S	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			6	1088	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	334			Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.1002G>A	CCDS5884.1																																																																																				0.632	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			6	18	0	0	0	1	0	6	18				
PTCD3	55037	broad.mit.edu	37	2	86348616	86348616	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:86348616C>G	ENST00000254630.7	+	8	619	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	PTCD3_ENST00000409277.3_Silent_p.L143L|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	185					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CACTGTGTCTCTTGAAACAAC	0.363																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(553-555)Ctt>Gtt		pentatricopeptide repeat domain 3							111.0	106.0	108.0					2																	86348616		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86348616C>G		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.553C>G	2.37:g.86348616C>G	ENSP00000254630:p.Leu185Val					PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Silent_p.L143L	p.L185V	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			8	619	+			185					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.553C>G	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007783	0.54361	.	.	ENSG00000132300	ENST00000254630	T	0.33654	1.4	5.14	2.33	0.28932	.	0.120705	0.64402	D	0.000019	T	0.43411	0.1246	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.39840	-0.9594	10	0.09338	T	0.73	-15.8824	10.4517	0.44526	0.0:0.7662:0.0:0.2338	.	185	Q96EY7	PTCD3_HUMAN	V	185	ENSP00000254630:L185V	ENSP00000254630:L185V	L	+	1	0	PTCD3	86202127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.478000	0.35442	0.669000	0.31146	0.655000	0.94253	CTT		0.363	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		29	44	0	0	0	1	0	29	44				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	4						3	4	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	4						3	4	---	---	---	---
SLC26A6	65010	broad.mit.edu	37	3	48668050	48668050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:48668050delC	ENST00000395550.2	-	10	1285	c.1238delG	c.(1237-1239)ggcfs	p.G413fs	SLC26A6_ENST00000455886.2_Frame_Shift_Del_p.G377fs|SLC26A6_ENST00000358747.6_Frame_Shift_Del_p.G392fs|SLC26A6_ENST00000383733.3_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000337000.8_Frame_Shift_Del_p.G306fs|SLC26A6_ENST00000420764.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000482282.1_5'Flank			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	413					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTGCGAGTTGCCCCCGGTGCT	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1174-1176)gcfs		solute carrier family 26 (anion exchanger), member 6							38.0	47.0	44.0					3																	48668050		2027	4171	6198	SO:0001589	frameshift_variant	65010							g.chr3:48668050delC	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1238delG	3.37:g.48668050delC	ENSP00000378920:p.Gly413fs					SLC26A6_ENST00000420764.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000395550.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000455886.2_Frame_Shift_Del_p.G377fs|SLC26A6_ENST00000337000.8_Frame_Shift_Del_p.G306fs|SLC26A6_ENST00000383733.3_Frame_Shift_Del_p.G413fs	p.G392fs	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	9	1425	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Frame_Shift_Del	DEL	ENST00000395550.2	37	c.1175delG	CCDS43087.1																																																																																				0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		2	4						2	4	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37616799	37616800	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:37616799_37616800delGA	ENST00000434837.3	-	9	3030_3031	c.1852_1853delTC	c.(1852-1854)tccfs	p.S618fs	MDGA1_ENST00000297153.7_Frame_Shift_Del_p.S621fs|MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.S618fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	618	Ig-like 6.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACATCGTTGGAGACGCTGCAC	0.718																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(1852-1854)cfs		MAM domain containing glycosylphosphatidylinositol anchor 1																																				SO:0001589	frameshift_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37616799_37616800delGA	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1852_1853delTC	6.37:g.37616801_37616802delGA	ENSP00000402584:p.Ser618fs					MDGA1_ENST00000505425.1_Frame_Shift_Del_p.S618fs|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.S621fs	p.S618fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			9	3030_3031	-			618			Ig-like 6.		A6NHG0|Q8NBE3	Frame_Shift_Del	DEL	ENST00000434837.3	37	c.1852_1853delTC	CCDS47417.1																																																																																				0.718	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			2	4						2	4	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139624	142139625	+	RNA	INS	-	-	CA	rs57717282|rs59112965	byFrequency	TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr7:142139624_142139625insCA	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		TTTGTCGTCAGcacacacacac	0.455														2334	0.466054	0.4584	0.4827	5008	,	,		14620	0.3919		0.5239	False		,,,				2504	0.4816					ENST00000390374.3																			0																																																			0							g.chr7:142139624_142139625insCA	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139633_142139634dupCA														0	94	-									RNA	INS	ENST00000390374.3	37																																																																																						0.455	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		9	46						9	46	---	---	---	---
PC	5091	broad.mit.edu	37	11	66619307	66619307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:66619307delC	ENST00000393958.2	-	15	2029	c.1936delG	c.(1936-1938)gccfs	p.A646fs	PC_ENST00000393960.1_Frame_Shift_Del_p.A646fs|PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Frame_Shift_Del_p.A646fs|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	646	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACAGCATTGGCCCCCCGCAGC	0.642																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1936-1938)ccfs		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						88.0	79.0	82.0					11																	66619307		2200	4295	6495	SO:0001589	frameshift_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619307delC	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1936delG	11.37:g.66619307delC	ENSP00000377530:p.Ala646fs					PC_ENST00000393958.2_Frame_Shift_Del_p.A646fs|PC_ENST00000393955.2_Frame_Shift_Del_p.A646fs	p.A646fs	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	16	2217	-		Melanoma(852;0.0525)	646			Carboxyltransferase.		B4DN00|Q16705	Frame_Shift_Del	DEL	ENST00000393958.2	37	c.1936delG	CCDS8152.1																																																																																				0.642	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		17	37						17	37	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20580521	20580522	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:20580521_20580522delAT	ENST00000382874.2	+	7	1497_1498	c.1307_1308delAT	c.(1306-1308)catfs	p.H436fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.H436fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.H349fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.H436fs|ZMYM2_ENST00000382883.3_Intron	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGATTCGCCATGAAGTCAGCT	0.312																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1306-1308)cfs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20580521_20580522delAT	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1307_1308delAT	13.37:g.20580521_20580522delAT	ENSP00000372327:p.His436fs					ZMYM2_ENST00000382883.3_Intron|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.H436fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.H349fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.H436fs	p.H436fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	6	1558_1559	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	436					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	c.1307_1308delAT	CCDS45016.1																																																																																				0.312	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		2	4						2	4	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46652260	46652260	+	Intron	DEL	A	A	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:46652260delA	ENST00000377693.4	+	1	55				IGFL2_ENST00000434646.2_Frame_Shift_Del_p.S6fs|IGFL2_ENST00000600243.1_Intron|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2							extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCAGTGTCTCAGGCATGAGGA	0.552																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(16-18)tcfs		IGF-like family member 2							68.0	73.0	71.0					19																	46652260		2010	4165	6175	SO:0001627	intron_variant	147920					extracellular region	protein binding	g.chr19:46652260delA	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.19+706A>-	19.37:g.46652260delA						AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_Intron|IGFL2_ENST00000377693.4_Intron	p.S6fs	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	2	309	+		Ovarian(192;0.0908)|all_neural(266;0.113)	0					E9PAV1|Q6B9Z3	Frame_Shift_Del	DEL	ENST00000377693.4	37	c.18delA	CCDS46121.1																																																																																				0.552	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		2	4						2	4	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620204	10620207	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr20:10620204_10620207delTGTT	ENST00000254958.5	-	26	4111_4114	c.3596_3599delAACA	c.(3595-3600)aaacagfs	p.KQ1199fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.KQ1040fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1199					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGTTGTCCTGTTTGTTTGTCCA	0.564									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3595-3600)agfs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620204_10620207delTGTT	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3596_3599delAACA	20.37:g.10620208_10620211delTGTT	ENSP00000254958:p.Lys1199fs					JAG1_ENST00000423891.2_Frame_Shift_Del_p.KQ1040fs	p.KQ1199fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	4111_4114	-			1199					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Del	DEL	ENST00000254958.5	37	c.3596_3599delAACA	CCDS13112.1																																																																																				0.564	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		69	170						69	170	---	---	---	---
