#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
CEP192	55125	broad.mit.edu	37	18	13100327	13100327	+	Silent	SNP	A	A	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr18:13100327A>G	ENST00000325971.8	+	36	6492	c.4899A>G	c.(4897-4899)cgA>cgG	p.R1633R	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Silent_p.R2229R|CEP192_ENST00000430049.2_Silent_p.R1754R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1633					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCAAATTCGAGAAGATTTAA	0.343																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6685-6687)cgA>cgG		centrosomal protein 192kDa							55.0	53.0	54.0					18																	13100327		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13100327A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4899A>G	18.37:g.13100327A>G						CEP192_ENST00000325971.8_Silent_p.R1633R|CEP192_ENST00000430049.2_Silent_p.R1754R|CEP192_ENST00000540847.2_3'UTR	p.R2229R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6767	+			1824					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.6687A>G																																																																																					0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		6	38	0	0	0	1	0	6	38				
TNFRSF9	3604	broad.mit.edu	37	1	7998781	7998781	+	Splice_Site	SNP	C	C	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																						ENST00000377507.3																			1	Substitution - Missense(1)	p.G70C(1)	kidney(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e3+1		tumor necrosis factor receptor superfamily, member 9							176.0	178.0	177.0					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998781C>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A							p.G70_splice	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	3	374	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	70						Splice_Site	SNP	ENST00000377507.3	37	c.208_splice	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Missense_Mutation	11	93	1	0	2.27111e-07	1	2.48238e-07	11	93				
LRRIQ1	84125	broad.mit.edu	37	12	85459188	85459188	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:85459188C>T	ENST00000393217.2	+	9	2601	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	847										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACATTGATGCACAGGTATGC	0.333																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2539-2541)gCa>gTa		leucine-rich repeats and IQ motif containing 1							105.0	99.0	101.0					12																	85459188		2203	4299	6502	SO:0001583	missense	84125							g.chr12:85459188C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2540C>T	12.37:g.85459188C>T	ENSP00000376910:p.Ala847Val						p.A847V	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	9	2601	+			847					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2540C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	4.773	0.143654	0.09134	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.08008	3.14	5.6	-0.907	0.10521	.	0.377447	0.22341	N	0.061323	T	0.03959	0.0111	N	0.16098	0.37	0.31236	N	0.695777	B;B	0.18461	0.003;0.028	B;B	0.20955	0.008;0.032	T	0.44267	-0.9339	10	0.10636	T	0.68	.	9.4524	0.38734	0.0:0.2406:0.0:0.7594	.	847;822	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	847;822;847	ENSP00000376910:A847V	ENSP00000256007:A847V	A	+	2	0	LRRIQ1	83983319	0.984000	0.35163	0.996000	0.52242	0.963000	0.63663	1.060000	0.30530	-0.056000	0.13221	0.585000	0.79938	GCA		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	53	0	0	0	1	0	7	53				
FANCD2	2177	broad.mit.edu	37	3	10128939	10128939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:10128939G>A	ENST00000419585.1	+	34	3618	c.3457G>A	c.(3457-3459)Gaa>Aaa	p.E1153K	FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K|FANCD2_ENST00000287647.3_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000436517.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1153					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCAGAACAAAGAAAAAATTGG	0.348			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3457-3459)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							96.0	93.0	94.0					3																	10128939		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128939G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3457G>A	3.37:g.10128939G>A	ENSP00000398754:p.Glu1153Lys					FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K	p.E1153K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3550	+			1153					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3457G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845141	0.32606	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.54	2.82	0.32997	.	0.250973	0.45867	N	0.000322	T	0.51244	0.1663	M	0.75447	2.3	0.80722	D	1	B;P	0.35656	0.363;0.514	B;B	0.31751	0.135;0.135	T	0.43782	-0.9370	10	0.39692	T	0.17	.	7.4888	0.27449	0.2647:0.0:0.7353:0.0	.	1153;1153	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	K	1153	ENSP00000287647:E1153K;ENSP00000373318:E1153K;ENSP00000373317:E1153K;ENSP00000398754:E1153K	ENSP00000287647:E1153K	E	+	1	0	FANCD2	10103939	1.000000	0.71417	0.769000	0.31535	0.290000	0.27261	3.261000	0.51530	0.327000	0.23409	-0.142000	0.14014	GAA		0.348	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	62	0	0	0	1	0	6	62				
PCDH7	5099	broad.mit.edu	37	4	30724278	30724278	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:30724278G>A	ENST00000361762.2	+	1	2242	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	412	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAACGACAACGTGCCGTCCAT	0.632																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1234-1236)Gtg>Atg		protocadherin 7							44.0	46.0	45.0					4																	30724278		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724278G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1234G>A	4.37:g.30724278G>A	ENSP00000355243:p.Val412Met					PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2242	+			412			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1234G>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.910418|2.910418	0.52439|0.52439	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.20598	.|2.06;2.06	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.39733|0.39733	0.1089|0.1089	L|L	0.45352|0.45352	1.415|1.415	0.48185|0.48185	D|D	0.999604|0.999604	.|D;D;D	.|0.67145	.|0.996;0.996;0.993	.|D;D;P	.|0.65684	.|0.937;0.937;0.867	T|T	0.16012|0.16012	-1.0417|-1.0417	5|9	.|0.66056	.|D	.|0.02	.|.	18.8233|18.8233	0.92106|0.92106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|412;365;412	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|M	101|412;412;365	.|ENSP00000355243:V412M;ENSP00000441802:V412M	.|ENSP00000330302:V365M	R|V	+|+	2|1	0|0	PCDH7|PCDH7	30333376|30333376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	7.863000|7.863000	0.87023|0.87023	2.453000|2.453000	0.82957|0.82957	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.632	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	37	0	0	0	1	0	4	37				
GREM1	26585	broad.mit.edu	37	15	33023158	33023158	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:33023158G>A	ENST00000300177.4	+	2	456	c.267G>A	c.(265-267)ctG>ctA	p.L89L	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000322805.4_Silent_p.L48L	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	89					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCAAATACCTGAAGCGAGACT	0.632																																						ENST00000300177.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(265-267)ctG>ctA		gremlin 1, DAN family BMP antagonist							52.0	44.0	47.0					15																	33023158		2201	4300	6501	SO:0001819	synonymous_variant	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023158G>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.267G>A	15.37:g.33023158G>A						GREM1_ENST00000322805.4_Silent_p.L48L|GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000560677.1_3'UTR	p.L89L	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	456	+		all_lung(180;1.49e-09)	89					Q52LV3|Q8N914|Q8N936	Silent	SNP	ENST00000300177.4	37	c.267G>A	CCDS10029.1																																																																																				0.632	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		7	31	0	0	0	1	0	7	31				
FRAS1	80144	broad.mit.edu	37	4	79207664	79207664	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:79207664G>A	ENST00000325942.6	+	14	1945	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D|FRAS1_ENST00000264895.6_Missense_Mutation_p.G502D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	502					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGGGACGGCTTCTACCAA	0.622																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1504-1506)gGc>gAc		Fraser syndrome 1							71.0	74.0	73.0					4																	79207664		2134	4238	6372	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79207664G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1505G>A	4.37:g.79207664G>A	ENSP00000326330:p.Gly502Asp					FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D|FRAS1_ENST00000325942.6_Missense_Mutation_p.G502D	p.G502D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			14	1945	+			502					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1505G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.222332|3.222332	0.58560|0.58560	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899	.|T;T;T	.|0.51574	.|0.7;0.7;0.87	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70736|0.70736	0.3258|0.3258	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.65815	.|0.995;0.995;0.818;0.937	.|P;P;B;P	.|0.60886	.|0.88;0.88;0.263;0.788	T|T	0.76602|0.76602	-0.2899|-0.2899	5|10	.|0.72032	.|D	.|0.01	.|.	18.75|18.75	0.91810|0.91810	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|502;502;502;502	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	T|D	431|502	.|ENSP00000326330:G502D;ENSP00000264895:G502D;ENSP00000264899:G502D	.|ENSP00000264895:G502D	A|G	+|+	1|2	0|0	FRAS1|FRAS1	79426688|79426688	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.172000|0.172000	0.22775|0.22775	3.928000|3.928000	0.56506|0.56506	2.433000|2.433000	0.82419|0.82419	0.557000|0.557000	0.71058|0.71058	GCT|GGC		0.622	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			3	50	0	0	0	1	0	3	50				
NMS	129521	broad.mit.edu	37	2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	rs142655356		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(394-396)Cga>Tga		neuromedin S		C	stop/ARG	0,4406		0,0,2203	296.0	280.0	285.0		394	-1.8	0.0	2	dbSNP_134	285	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	NMS	NM_001011717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		132/154	101097609	1,13005	2203	4300	6503	SO:0001587	stop_gained	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101097609C>T	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.394C>T	2.37:g.101097609C>T	ENSP00000366061:p.Arg132*						p.R132*	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			8	401	+			132						Nonsense_Mutation	SNP	ENST00000376865.1	37	c.394C>T	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009680	0.35415	0.0	1.16E-4	ENSG00000204640	ENST00000376865	.	.	.	4.93	-1.78	0.07957	.	0.166652	0.35708	N	0.003033	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7451	5.684	0.17792	0.5534:0.2851:0.0:0.1615	.	.	.	.	X	132	.	ENSP00000366061:R132X	R	+	1	2	NMS	100464041	0.156000	0.22821	0.013000	0.15412	0.460000	0.32559	-0.532000	0.06164	-0.468000	0.06922	0.655000	0.94253	CGA		0.423	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		4	164	0	0	0	1	0	4	164				
TAC3	6866	broad.mit.edu	37	12	57409569	57409569	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:57409569G>A	ENST00000458521.2	-	2	172	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TAC3_ENST00000415231.1_Silent_p.L5L|TAC3_ENST00000441881.1_Silent_p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	5					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTGAATAGCAGCATGATCCTC	0.547																																						ENST00000458521.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(13-15)Ctg>Ttg		tachykinin 3							78.0	71.0	73.0					12																	57409569		2203	4300	6503	SO:0001819	synonymous_variant	6866				female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding	g.chr12:57409569G>A	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"""Endogenous ligands"""	11521	protein-coding gene	gene with protein product	"""preprotachykinin-B"""	162330	"""neuromedin K"", ""neurokinin beta"""	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.13C>T	12.37:g.57409569G>A						TAC3_ENST00000441881.1_Silent_p.L5L|TAC3_ENST00000415231.1_Silent_p.L5L	p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN			2	172	-			5					Q6IAG2|Q71BC6|Q71BC9	Silent	SNP	ENST00000458521.2	37	c.13C>T	CCDS8928.1																																																																																				0.547	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		5	36	0	0	0	1	0	5	36				
FEZ1	9638	broad.mit.edu	37	11	125359621	125359621	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:125359621G>C	ENST00000278919.3	-	2	287	c.53C>G	c.(52-54)tCc>tGc	p.S18C	FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C|FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	18					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCCGAGCAGGAGGGTCGAAG	0.537																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(52-54)tCc>tGc		fasciculation and elongation protein zeta 1 (zygin I)							67.0	71.0	70.0					11																	125359621		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359621G>C	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.53C>G	11.37:g.125359621G>C	ENSP00000278919:p.Ser18Cys					FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C|FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C	p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	287	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	18					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.53C>G	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102479	0.06967	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.35973	1.28	5.62	2.69	0.31865	.	0.195662	0.56097	N	0.000031	T	0.19406	0.0466	N	0.04508	-0.205	0.30617	N	0.758858	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07616	-1.0763	10	0.51188	T	0.08	-2.3078	14.7186	0.69289	0.0:0.5776:0.4224:0.0	.	18;18	B4DKG5;Q99689	.;FEZ1_HUMAN	C	18	ENSP00000278919:S18C	ENSP00000278919:S18C	S	-	2	0	FEZ1	124864831	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	1.717000	0.37991	0.297000	0.22615	-0.133000	0.14855	TCC		0.537	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		14	53	0	0	0	1	0	14	53				
PLXND1	23129	broad.mit.edu	37	3	129305068	129305068	+	Silent	SNP	C	C	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:129305068C>G	ENST00000324093.4	-	4	1846	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	PLXND1_ENST00000393239.1_Silent_p.G556G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	556					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCACGCAGTCCCCACAGGTGG	0.692																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1666-1668)ggG>ggC		plexin D1							12.0	12.0	12.0					3																	129305068		2170	4260	6430	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129305068C>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1668G>C	3.37:g.129305068C>G						PLXND1_ENST00000324093.4_Silent_p.G556G	p.G556G			Q9Y4D7	PLXD1_HUMAN			4	1846	-			556					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.1668G>C	CCDS33854.1																																																																																				0.692	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	8	0	0	0	1	0	3	8				
CIC	23152	broad.mit.edu	37	19	42791744	42791744	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:42791744C>A	ENST00000575354.2	+	5	670	c.630C>A	c.(628-630)ttC>ttA	p.F210L	CIC_ENST00000160740.3_Missense_Mutation_p.F210L|CIC_ENST00000572681.2_Missense_Mutation_p.F1119L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCATGATCTTCAGCAAGCGGC	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3355-3357)ttC>ttA		capicua transcriptional repressor							65.0	67.0	66.0					19																	42791744		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791744C>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.630C>A	19.37:g.42791744C>A	ENSP00000458663:p.Phe210Leu					CIC_ENST00000160740.3_Missense_Mutation_p.F210L|CIC_ENST00000575354.2_Missense_Mutation_p.F210L	p.F1119L			Q96RK0	CIC_HUMAN			6	3425	+		Prostate(69;0.00682)	210			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3357C>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114369	0.37339	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.90123	0.6914	H	0.98738	4.315	0.51767	D	0.999934	D	0.69078	0.997	D	0.77004	0.989	D	0.93807	0.7106	8	0.87932	D	0	-10.7648	14.5138	0.67807	0.0:1.0:0.0:0.0	.	210	Q96RK0	CIC_HUMAN	L	210	.	ENSP00000160740:F210L	F	+	3	2	CIC	47483584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.461000	0.35255	2.284000	0.76573	0.555000	0.69702	TTC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	34	1	0	2.17888e-05	1	2.32744e-05	9	34				
ANK1	286	broad.mit.edu	37	8	41521247	41521247	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:41521247T>C	ENST00000347528.4	-	40	5491	c.5408A>G	c.(5407-5409)cAg>cGg	p.Q1803R	ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|ANK1_ENST00000396942.1_Missense_Mutation_p.Q1803R|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R|ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|RP11-930P14.1_ENST00000520418.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1803	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAATATTCTGAAACTCATT	0.512																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5407-5409)cAg>cGg		ankyrin 1, erythrocytic							155.0	120.0	132.0					8																	41521247		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41521247T>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5408A>G	8.37:g.41521247T>C	ENSP00000339620:p.Gln1803Arg					ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R	p.Q1803R			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		40	5491	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1803			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5408A>G	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171071	0.38315	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000457297;ENST00000396942;ENST00000352337;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709;ENST00000348036;ENST00000335651	T;T;T;T;T;D;D;D;T	0.86366	-0.13;-0.11;-0.17;-0.1;-0.16;-1.69;-2.11;-2.08;-0.13	6.04	6.04	0.98038	.	0.419735	0.23714	N	0.045285	D	0.89287	0.6672	L	0.49778	1.585	0.28718	N	0.903167	P;B;P;B;B;B;P;B;D;B	0.65815	0.876;0.244;0.589;0.411;0.0;0.413;0.454;0.358;0.995;0.178	P;B;B;B;B;B;B;B;D;B	0.68483	0.79;0.048;0.117;0.03;0.002;0.066;0.105;0.153;0.958;0.108	D	0.83528	0.0089	10	0.32370	T	0.25	.	7.3399	0.26632	0.1415:0.0:0.1477:0.7108	.	78;1844;1641;1803;1803;1803;957;78;78;78	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;A0PJN8;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.;.	R	1803;1803;1803;78;1803;1803;78;78;78;1844;78;78	ENSP00000339620:Q1803R;ENSP00000289734:Q1803R;ENSP00000369082:Q1803R;ENSP00000380147:Q1803R;ENSP00000309131:Q1803R;ENSP00000428750:Q78R;ENSP00000430368:Q78R;ENSP00000319123:Q78R;ENSP00000265709:Q1844R	ENSP00000265709:Q1844R	Q	-	2	0	ANK1	41640404	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.186000	0.42593	2.317000	0.78254	0.459000	0.35465	CAG		0.512	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	55	0	0	0	1	0	4	55				
ALMS1	7840	broad.mit.edu	37	2	73650092	73650092	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:73650092G>A	ENST00000264448.6	+	4	865	c.754G>A	c.(754-756)Gca>Aca	p.A252T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	252					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTAAGTTTTGCACCTCTGAG	0.378																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(754-756)Gca>Aca		Alstrom syndrome 1							185.0	169.0	174.0					2																	73650092		1855	4099	5954	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73650092G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.754G>A	2.37:g.73650092G>A	ENSP00000264448:p.Ala252Thr					ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	p.A252T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			4	865	+			252					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.754G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364814	0.61513	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16457	3.25;3.22;2.34	5.58	5.58	0.84498	.	0.000000	0.43747	D	0.000534	T	0.26593	0.0650	L	0.36672	1.1	0.26143	N	0.980245	D;D	0.57257	0.979;0.979	P;P	0.56563	0.801;0.801	T	0.04360	-1.0957	10	0.44086	T	0.13	.	15.0737	0.72059	0.0:0.0:1.0:0.0	.	210;252	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	210;252;252	ENSP00000386627:A210T;ENSP00000264448:A252T;ENSP00000366944:A252T	ENSP00000264448:A252T	A	+	1	0	ALMS1	73503600	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.435000	0.52849	2.636000	0.89361	0.655000	0.94253	GCA		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		28	134	0	0	0	1	0	28	134				
MED16	10025	broad.mit.edu	37	19	885978	885978	+	Missense_Mutation	SNP	C	C	G	rs137978287		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:885978C>G	ENST00000589119.1	-	4	670	c.671G>C	c.(670-672)gGc>gCc	p.G224A	MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A|MED16_ENST00000312090.6_Missense_Mutation_p.G224A|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	224					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGATGTTGCCGCCGCCGGT	0.701																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(670-672)gGc>gCc		mediator complex subunit 16							34.0	32.0	32.0					19																	885978		2193	4278	6471	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:885978C>G	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.671G>C	19.37:g.885978C>G	ENSP00000464810:p.Gly224Ala					MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.G224A|MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A	p.G224A			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	821	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	224					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.671G>C	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367401	0.82463	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	3.06	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.177235	0.49305	D	0.000142	T	0.50582	0.1624	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.65815	0.99;0.994;0.994;0.995	P;D;P;D	0.64776	0.812;0.913;0.884;0.929	T	0.57154	-0.7860	10	0.59425	D	0.04	-3.2354	13.5876	0.61940	0.0:1.0:0.0:0.0	.	224;224;224;224	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	A	224	ENSP00000325612:G224A;ENSP00000308528:G224A;ENSP00000379153:G224A;ENSP00000269814:G224A	ENSP00000269814:G224A	G	-	2	0	MED16	836978	1.000000	0.71417	0.796000	0.32109	0.934000	0.57294	7.054000	0.76649	1.736000	0.51660	0.462000	0.41574	GGC		0.701	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		10	22	0	0	0	1	0	10	22				
GALNT10	55568	broad.mit.edu	37	5	153755873	153755873	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr5:153755873T>C	ENST00000297107.6	+	5	742	c.605T>C	c.(604-606)cTt>cCt	p.L202P	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	202	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(604-606)cTt>cCt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							137.0	134.0	135.0					5																	153755873		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755873T>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.605T>C	5.37:g.153755873T>C	ENSP00000297107:p.Leu202Pro					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P	p.L202P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	742	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	202			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.605T>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036802	0.35893	.	.	ENSG00000164574	ENST00000425427;ENST00000297107	T;T	0.59772	0.24;0.24	5.98	-6.42	0.01932	Glycosyl transferase, family 2 (1);	0.438212	0.26923	N	0.021806	T	0.38904	0.1058	L	0.33710	1.025	0.09310	N	0.999996	B;B	0.30634	0.288;0.0	B;B	0.35899	0.213;0.0	T	0.37596	-0.9699	10	0.46703	T	0.11	.	8.2076	0.31465	0.5976:0.0:0.248:0.1545	.	202;202	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	P	202	ENSP00000415210:L202P;ENSP00000297107:L202P	ENSP00000297107:L202P	L	+	2	0	GALNT10	153736066	0.991000	0.36638	0.165000	0.22776	0.896000	0.52359	2.523000	0.45580	-0.512000	0.06505	0.533000	0.62120	CTT		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		3	110	0	0	0	1	0	3	110				
SEC14L5	9717	broad.mit.edu	37	16	5053535	5053535	+	Silent	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr16:5053535C>T	ENST00000251170.7	+	11	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	421	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1261-1263)atC>atT		SEC14-like 5 (S. cerevisiae)							34.0	39.0	38.0					16																	5053535		1903	4148	6051	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053535C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1263C>T	16.37:g.5053535C>T							p.I421I	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			11	1443	+			421			CRAL-TRIO.			Silent	SNP	ENST00000251170.7	37	c.1263C>T	CCDS45403.1																																																																																				0.657	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			7	32	0	0	0	1	0	7	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			9	39	0	0	0	1	0	9	39				
LTBP3	4054	broad.mit.edu	37	11	65320906	65320906	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:65320906G>A	ENST00000301873.5	-	4	1228	c.960C>T	c.(958-960)ccC>ccT	p.P320P	LTBP3_ENST00000322147.4_Silent_p.P320P|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	320	TB 1.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACTGCAGCTGGGGACACTTGT	0.667																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(958-960)ccC>ccT		latent transforming growth factor beta binding protein 3							28.0	29.0	29.0					11																	65320906		2196	4293	6489	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320906G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.960C>T	11.37:g.65320906G>A						LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P320P	p.P320P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			4	1228	-			320			TB 1.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.960C>T	CCDS44647.1																																																																																				0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		6	23	0	0	0	1	0	6	23				
RADIL	55698	broad.mit.edu	37	7	4917591	4917591	+	Silent	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:4917591C>T	ENST00000399583.3	-	2	367	c.180G>A	c.(178-180)tcG>tcA	p.S60S	RADIL_ENST00000536091.1_Silent_p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.S60S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGGGGCCGACAGCTGGG	0.657																																						ENST00000399583.3																			1	Substitution - coding silent(1)	p.S60S(1)	lung(1)	NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(178-180)tcG>tcA		Ras association and DIL domains							19.0	24.0	23.0					7																	4917591		1993	4153	6146	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917591C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.180G>A	7.37:g.4917591C>T						RADIL_ENST00000536091.1_Silent_p.S60S	p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	367	-		Ovarian(82;0.0175)	60					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.180G>A	CCDS43544.1																																																																																				0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	22	0	0	0	1	0	3	22				
CNOT4	4850	broad.mit.edu	37	7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:135078909T>C	ENST00000315544.5	-	10	1667	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000428680.2_Missense_Mutation_p.N460S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1378-1380)aAt>aGt		CCR4-NOT transcription complex, subunit 4							124.0	128.0	127.0					7																	135078909		1963	4170	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078909T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1388A>G	7.37:g.135078909T>C	ENSP00000326731:p.Asn463Ser					CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S	p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1658	-			463					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1379A>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519633	0.44866	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.45276	0.9;0.9;0.93;0.93;0.91;0.91	6.17	6.17	0.99709	.	0.044381	0.85682	D	0.000000	T	0.28699	0.0711	N	0.19112	0.55	0.53688	D	0.999973	B;B;B;P;P;P	0.35872	0.001;0.001;0.39;0.525;0.525;0.525	B;B;B;B;B;B	0.35353	0.001;0.001;0.099;0.201;0.156;0.156	T	0.09818	-1.0657	10	0.10902	T	0.67	-15.4612	16.0034	0.80327	0.0:0.0:0.0:1.0	.	460;463;463;460;463;460	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	463;460;463;463;460;460;463	ENSP00000445508:N463S;ENSP00000388491:N460S;ENSP00000406777:N463S;ENSP00000354673:N460S;ENSP00000399108:N460S;ENSP00000326731:N463S	ENSP00000262563:N463S	N	-	2	0	CNOT4	134729449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.510000	0.60455	2.371000	0.80710	0.533000	0.62120	AAT		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		18	62	0	0	0	1	0	18	62				
FLNA	2316	broad.mit.edu	37	X	153583249	153583249	+	Missense_Mutation	SNP	C	C	T	rs187497365		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:153583249C>T	ENST00000369850.3	-	31	5397	c.5161G>A	c.(5161-5163)Gtc>Atc	p.V1721I	FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I|FLNA_ENST00000422373.1_Missense_Mutation_p.V1713I|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1721					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACACAGATGACGTATTTGCCC	0.622													.|||	2	0.000529801	0.0	0.0	3775	,	,		13568	0.0		0.002	False		,,,				2504	0.0					ENST00000422373.1																			0				breast(6)	6						c.(5137-5139)Gtc>Atc		filamin A, alpha							41.0	45.0	43.0					X																	153583249		2165	4242	6407	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153583249C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5161G>A	X.37:g.153583249C>T	ENSP00000358866:p.Val1721Ile					FLNA_ENST00000369850.3_Missense_Mutation_p.V1721I|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I	p.V1713I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			30	5385	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1721					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5137G>A	CCDS48194.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.972	0.363211	0.11296	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.12	2.32	0.28847	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.163530	0.37623	N	0.002011	T	0.75796	0.3898	N	0.21373	0.66	0.80722	D	1	B;B	0.18166	0.009;0.026	B;B	0.19666	0.026;0.021	T	0.66217	-0.5979	10	0.45353	T	0.12	.	13.4534	0.61184	0.0:0.7895:0.0:0.2105	.	1713;1721	P21333-2;P21333	.;FLNA_HUMAN	I	1713;1694;1713;1721;1713	ENSP00000353467:V1713I;ENSP00000416926:V1713I;ENSP00000358866:V1721I;ENSP00000358863:V1713I	ENSP00000358863:V1713I	V	-	1	0	FLNA	153236443	0.946000	0.32159	0.777000	0.31699	0.248000	0.25809	2.142000	0.42177	0.145000	0.18977	-1.955000	0.00483	GTC		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	48	0	0	0	1	0	3	48				
EIF2B1	1967	broad.mit.edu	37	12	124111476	124111476	+	Intron	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:124111476T>C	ENST00000424014.2	-	5	691				EIF2B1_ENST00000539951.1_Intron|EIF2B1_ENST00000537073.1_Silent_p.A199A	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGAAAGGCAGTGCTGACTGCT	0.453																																						ENST00000537073.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(595-597)gcA>gcG		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa																																				SO:0001627	intron_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124111476T>C	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.482+114A>G	12.37:g.124111476T>C						EIF2B1_ENST00000539951.1_Intron|EIF2B1_ENST00000424014.2_Intron	p.A199A			Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	5	805	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.597A>G	CCDS31924.1																																																																																				0.453	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		3	2	0	0	0	1	0	3	2				
TAS1R1	80835	broad.mit.edu	37	1	6639509	6639509	+	Silent	SNP	G	G	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:6639509G>T	ENST00000333172.6	+	6	2584	c.2391G>T	c.(2389-2391)ctG>ctT	p.L797L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.L543L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	797					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCTGGGCTGAGCAGCCTGA	0.597																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2389-2391)ctG>ctT		taste receptor, type 1, member 1							89.0	81.0	84.0					1																	6639509		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639509G>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2391G>T	1.37:g.6639509G>T						TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L543L	p.L797L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2584	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	797					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2391G>T	CCDS81.1																																																																																				0.597	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			7	29	1	0	0.00307968	1	0.00307968	7	29				
ZNF37BP	100129482	broad.mit.edu	37	10	43016558	43016558	+	RNA	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr10:43016558T>C	ENST00000452075.3	-	0	1036					NR_026777.1				zinc finger protein 37B, pseudogene																		GAATAGTTTCTACTGGTATTA	0.313																																						ENST00000473592.1																			0																																																			0							g.chr10:43016558T>C	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43016558T>C														0	2641	-									RNA	SNP	ENST00000452075.3	37																																																																																						0.313	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	NR_026777		27	60	0	0	0	1	0	27	60				
CT47B1	643311	broad.mit.edu	37	X	120008870	120008870	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:120008870C>T	ENST00000371311.3	-	1	909	c.655G>A	c.(655-657)Gcg>Acg	p.A219T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	219										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCTCCTCCGCGGGCTCCCTG	0.692													N|||	4	0.0010596	0.003	0.0	3775	,	,		9901	0.0		0.0	False		,,,				2504	0.0					ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(655-657)Gcg>Acg		cancer/testis antigen family 47, member B1							27.0	26.0	27.0					X																	120008870		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008870C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.655G>A	X.37:g.120008870C>T	ENSP00000360360:p.Ala219Thr						p.A219T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	909	-			219					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.655G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365318	0.11352	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.32	-2.63	0.06133	.	.	.	.	.	T	0.23451	0.0567	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.10683	-1.0619	8	0.37606	T	0.19	.	3.1537	0.06497	0.0:0.3964:0.247:0.3566	.	219	P0C2W7	CT47B_HUMAN	T	219	.	ENSP00000360360:A219T	A	-	1	0	CT47B1	119892898	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.390000	0.02528	-1.786000	0.01269	-1.177000	0.01723	GCG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		7	145	0	0	0	1	0	7	145				
CCNT1	904	broad.mit.edu	37	12	49087746	49087746	+	Silent	SNP	T	T	C	rs561483800		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49087746T>C	ENST00000261900.3	-	9	1473	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	417					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATATGCATATTGTGACTTCA	0.468																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1249-1251)caA>caG		cyclin T1							155.0	161.0	159.0					12																	49087746		2203	4300	6503	SO:0001819	synonymous_variant	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087746T>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1251A>G	12.37:g.49087746T>C							p.Q417Q	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1473	-			417					A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	c.1251A>G	CCDS8766.1																																																																																				0.468	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		39	121	0	0	0	1	0	39	121				
SLC25A5	292	broad.mit.edu	37	X	118603879	118603879	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(367-369)Gca>Aca		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						92.0	92.0	92.0					X																	118603879		2203	4300	6503	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603879G>A	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.367G>A	X.37:g.118603879G>A	ENSP00000360671:p.Ala123Thr					SLC25A5_ENST00000460013.1_3'UTR	p.A123T	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			2	483	+			123					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.367G>A	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103021	0.76983	.	.	ENSG00000005022	ENST00000317881	D	0.87650	-2.28	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91561	3.22	0.80722	D	1	D	0.61080	0.989	P	0.51487	0.671	D	0.94308	0.7543	10	0.87932	D	0	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	123	P05141	ADT2_HUMAN	T	123	ENSP00000360671:A123T	ENSP00000360671:A123T	A	+	1	0	SLC25A5	118487907	1.000000	0.71417	0.505000	0.27651	0.948000	0.59901	9.356000	0.97091	2.100000	0.63781	0.529000	0.55759	GCA		0.527	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		4	165	0	0	0	1	0	4	165				
PRAMEF4	400735	broad.mit.edu	37	1	12943140	12943140	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:12943140C>G	ENST00000235349.5	-	2	146	c.76G>C	c.(76-78)Gcc>Ccc	p.A26P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	26					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGACATGGCCAAAGCTTGG	0.577																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(76-78)Gcc>Ccc		PRAME family member 4							111.0	113.0	112.0					1																	12943140		2183	4282	6465	SO:0001583	missense	400735							g.chr1:12943140C>G		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.76G>C	1.37:g.12943140C>G	ENSP00000235349:p.Ala26Pro						p.A26P	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	146	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	26					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.76G>C	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	10.17	1.275739	0.23307	.	.	ENSG00000243073	ENST00000235349	T	0.06849	3.25	1.48	-2.96	0.05547	.	0.158012	0.43416	D	0.000567	T	0.22781	0.0550	M	0.90369	3.11	0.09310	N	1	D	0.60160	0.987	D	0.63793	0.918	T	0.12734	-1.0536	10	0.87932	D	0	.	3.5852	0.07969	0.3775:0.4548:0.0:0.1678	.	26	O60810	PRAM4_HUMAN	P	26	ENSP00000235349:A26P	ENSP00000235349:A26P	A	-	1	0	PRAMEF4	12865727	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.367000	0.07553	-1.603000	0.01597	-1.785000	0.00643	GCC		0.577	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		21	125	0	0	0	1	0	21	125				
PRSS55	203074	broad.mit.edu	37	8	10387145	10387145	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:10387145G>A	ENST00000328655.3	+	2	323	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	95	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TTTCTGTGGCGGCTCCATCCT	0.547																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(283-285)Ggc>Agc		protease, serine, 55							249.0	246.0	247.0					8																	10387145		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387145G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.283G>A	8.37:g.10387145G>A	ENSP00000333003:p.Gly95Ser					PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S|PRSS51_ENST00000523024.1_RNA	p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	323	+			95			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.283G>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046229	0.55110	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.98221	-4.8;-4.8	4.07	4.07	0.47477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33272	N	0.005098	D	0.98940	0.9640	M	0.89968	3.075	0.38881	D	0.956916	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	.	12.0585	0.53548	0.0:0.0:1.0:0.0	.	95	Q6UWB4	PRS55_HUMAN	S	95	ENSP00000333003:G95S;ENSP00000430459:G95S	ENSP00000333003:G95S	G	+	1	0	PRSS55	10424555	0.999000	0.42202	0.980000	0.43619	0.056000	0.15407	6.623000	0.74238	2.555000	0.86185	0.561000	0.74099	GGC		0.547	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		30	268	0	0	0	1	0	30	268				
HECTD1	25831	broad.mit.edu	37	14	31618142	31618142	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:31618142T>C	ENST00000399332.1	-	14	2868	c.2380A>G	c.(2380-2382)Aga>Gga	p.R794G	HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	794					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGGTTCCTCTATTAGATTCA	0.308																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2380-2382)Aga>Gga		HECT domain containing E3 ubiquitin protein ligase 1							93.0	87.0	89.0					14																	31618142		1815	4076	5891	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31618142T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2380A>G	14.37:g.31618142T>C	ENSP00000382269:p.Arg794Gly					HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	14	2868	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		794					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2380A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666240	0.67814	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.47322	0.1439	M	0.72118	2.19	0.80722	D	1	D;D	0.63880	0.993;0.967	D;P	0.72338	0.977;0.879	T	0.46470	-0.9189	10	0.87932	D	0	-13.2662	16.4084	0.83698	0.0:0.0:0.0:1.0	.	794;794	D3DS86;Q9ULT8	.;HECD1_HUMAN	G	794;794;794;268;794	ENSP00000450697:R794G;ENSP00000382269:R794G;ENSP00000451860:R268G;ENSP00000452015:R794G	ENSP00000261312:R794G	R	-	1	2	HECTD1	30687893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.853000	0.55941	2.280000	0.76307	0.528000	0.53228	AGA		0.308	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			8	54	0	0	0	1	0	8	54				
SLC6A12	6539	broad.mit.edu	37	12	307979	307979	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:307979C>T	ENST00000428720.1	-	8	1573	c.830G>A	c.(829-831)cGc>cAc	p.R277H	SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	277					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTCCTTGAGGCGGAACAAATC	0.517																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(829-831)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 12							145.0	122.0	129.0					12																	307979		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:307979C>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.830G>A	12.37:g.307979C>T	ENSP00000388184:p.Arg277His					SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H	p.R277H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		8	1573	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		277					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.830G>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660863	0.67700	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.44	4.44	0.53790	.	0.064020	0.64402	D	0.000017	D	0.89100	0.6619	M	0.93420	3.415	0.49389	D	0.999786	D	0.71674	0.998	D	0.66497	0.944	D	0.92416	0.5941	10	0.72032	D	0.01	.	17.4416	0.87566	0.0:1.0:0.0:0.0	.	277	P48065	S6A12_HUMAN	H	277	ENSP00000352702:R277H;ENSP00000380464:R277H;ENSP00000388184:R277H;ENSP00000399136:R277H;ENSP00000444268:R277H	ENSP00000352702:R277H	R	-	2	0	SLC6A12	178240	0.772000	0.28567	0.980000	0.43619	0.762000	0.43233	1.967000	0.40491	2.169000	0.68431	0.655000	0.94253	CGC		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		14	72	0	0	0	1	0	14	72				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	130	0	0	0	1	0	4	130				
CACTIN	58509	broad.mit.edu	37	19	3613264	3613264	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:3613264G>A	ENST00000429344.2	-	9	1630	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.D458D|CACTIN_ENST00000248420.5_Silent_p.D526D	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	526					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCCCGTCGCCGTCGCCCTCTG	0.761																																						ENST00000429344.2																			0											c.(1576-1578)gaC>gaT		cactin, spliceosome C complex subunit							23.0	26.0	25.0					19																	3613264		2028	4135	6163	SO:0001819	synonymous_variant	58509							g.chr19:3613264G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1578C>T	19.37:g.3613264G>A						CACTIN_ENST00000248420.5_Silent_p.D526D|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.D458D	p.D526D	NM_001080543.1	NP_001074012.1					9	1630	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.1578C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	g	2.240	-0.374002	0.05034	.	.	ENSG00000226800	ENST00000447295	.	.	.	0.891	-1.78	0.07957	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.14448	-1.0472	4	.	.	.	.	0.3647	0.00370	0.2207:0.2303:0.3188:0.2302	.	.	.	.	I	298	.	.	V	+	1	0	C19orf29OS	3564264	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.434000	0.06939	-2.751000	0.00374	-2.715000	0.00133	GTC		0.761	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			6	29	0	0	0	1	0	6	29				
DAAM1	23002	broad.mit.edu	37	14	59797962	59797962	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:59797962G>A	ENST00000395125.1	+	13	1619	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	DAAM1_ENST00000360909.3_Silent_p.S532S|DAAM1_ENST00000351081.1_Silent_p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	532	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGACCCTCGCCTGGAGCAC	0.517																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1594-1596)tcG>tcA		dishevelled associated activator of morphogenesis 1							83.0	87.0	85.0					14																	59797962		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797962G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1596G>A	14.37:g.59797962G>A						DAAM1_ENST00000351081.1_Silent_p.S532S|DAAM1_ENST00000360909.3_Silent_p.S532S	p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1619	+			532			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.1596G>A	CCDS9737.1																																																																																				0.517	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		14	81	0	0	0	1	0	14	81				
GPR128	84873	broad.mit.edu	37	3	100378648	100378648	+	Missense_Mutation	SNP	C	C	G	rs144717099		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:100378648C>G	ENST00000273352.3	+	14	2208	c.1940C>G	c.(1939-1941)tCg>tGg	p.S647W	GPR128_ENST00000475887.1_Missense_Mutation_p.S352W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	647					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTACAATCTCGATCAAAGTG	0.438																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1939-1941)tCg>tGg		G protein-coupled receptor 128							165.0	152.0	157.0					3																	100378648		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100378648C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1940C>G	3.37:g.100378648C>G	ENSP00000273352:p.Ser647Trp					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.S352W	p.S647W	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			14	2208	+			647					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1940C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159867	0.21454	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.44083	0.93;0.93	5.78	3.9	0.45041	GPCR, family 2-like (1);	1.171200	0.06213	N	0.685346	T	0.61286	0.2335	M	0.67397	2.05	0.09310	N	1	D;D	0.71674	0.997;0.998	D;D	0.70487	0.969;0.962	T	0.28490	-1.0042	10	0.72032	D	0.01	.	6.2728	0.20963	0.0:0.6553:0.0:0.3447	.	352;647	E9PHI0;Q96K78	.;GP128_HUMAN	W	647;352	ENSP00000273352:S647W;ENSP00000419788:S352W	ENSP00000273352:S647W	S	+	2	0	GPR128	101861338	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.174000	0.16743	0.684000	0.31448	0.563000	0.77884	TCG		0.438	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			8	60	0	0	0	1	0	8	60				
ATRX	546	broad.mit.edu	37	X	76944310	76944310	+	Splice_Site	SNP	C	C	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:76944310C>T	ENST00000373344.5	-	7	809		c.e7+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCATTACATACCTTACAAATA	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e7+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						121.0	111.0	115.0					X																	76944310		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76944310C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.594+1G>A	X.37:g.76944310C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			7	809	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358477	0.82243	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2466	0.89988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76830966	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.487000	0.81328	2.247000	0.74100	0.594000	0.82650	.		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	15	65	0	0	0	1	0	15	65				
RBM7	10179	broad.mit.edu	37	11	114278301	114278301	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:114278301A>C	ENST00000540163.1	+	5	1215	c.573A>C	c.(571-573)caA>caC	p.Q191H	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	191					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTGGCGCCAAGGTACACCAT	0.438																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(571-573)caA>caC		RNA binding motif protein 7							143.0	125.0	131.0					11																	114278301		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278301A>C	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.573A>C	11.37:g.114278301A>C	ENSP00000439918:p.Gln191His					RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR	p.Q191H			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1215	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	191					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.573A>C	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218699	0.39201	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28895	1.59;2.62	5.75	-4.04	0.04010	.	0.374773	0.33180	N	0.005192	T	0.25419	0.0618	L	0.47716	1.5	0.26055	N	0.981425	B;D	0.56035	0.0;0.974	B;P	0.49752	0.0;0.621	T	0.41342	-0.9514	10	0.13853	T	0.58	-17.0093	9.5135	0.39091	0.3231:0.1217:0.5552:0.0	.	191;191	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	191;192;71	ENSP00000439918:Q191H;ENSP00000364639:Q192H	ENSP00000364639:Q192H	Q	+	3	2	RBM7	113783511	0.257000	0.24022	0.857000	0.33713	0.338000	0.28826	-0.729000	0.04920	-0.678000	0.05224	-0.272000	0.10252	CAA		0.438	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		17	109	0	0	0	1	0	17	109				
ACACB	32	broad.mit.edu	37	12	109703224	109703224	+	Missense_Mutation	SNP	G	G	T	rs373300737		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:109703224G>T	ENST00000338432.7	+	52	7263	c.7144G>T	c.(7144-7146)Gtg>Ttg	p.V2382L	ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2382					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCAGGTGGTTGTGCAGTGGCT	0.627																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7144-7146)Gtg>Ttg		acetyl-CoA carboxylase beta	Biotin(DB00121)						58.0	44.0	49.0					12																	109703224		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109703224G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7144G>T	12.37:g.109703224G>T	ENSP00000341044:p.Val2382Leu					ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L|ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR	p.V2382L			O00763	ACACB_HUMAN			52	7263	+			2382					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.7144G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314196	0.60414	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.56444	0.46;0.46;0.46	4.54	4.54	0.55810	.	0.060283	0.64402	D	0.000003	T	0.55657	0.1934	M	0.67397	2.05	0.80722	D	1	B	0.21071	0.051	B	0.26864	0.074	T	0.58983	-0.7539	10	0.56958	D	0.05	.	17.6802	0.88240	0.0:0.0:1.0:0.0	.	2382	O00763	ACACB_HUMAN	L	2382;2382;2312;1613;76	ENSP00000341044:V2382L;ENSP00000367079:V2382L;ENSP00000367085:V2312L	ENSP00000341044:V2382L	V	+	1	0	ACACB	108187607	1.000000	0.71417	0.855000	0.33649	0.304000	0.27724	9.644000	0.98468	2.256000	0.74724	0.555000	0.69702	GTG		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	28	1	0	0.000274275	1	0.000280238	6	28				
DTX1	1840	broad.mit.edu	37	12	113533219	113533219	+	Splice_Site	SNP	G	G	T			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:113533219G>T	ENST00000257600.3	+	8	2141	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	546					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGCCGGAAGGTGGGTGCCC	0.632																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.e8+1		deltex homolog 1 (Drosophila)							42.0	46.0	45.0					12																	113533219		2203	4300	6503	SO:0001630	splice_region_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533219G>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1638+1G>T	12.37:g.113533219G>T						DTX1_ENST00000547974.1_3'UTR	p.K546_splice	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			8	2141	+			546					O60630|Q9BS04	Splice_Site	SNP	ENST00000257600.3	37	c.1638_splice	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772176	0.69992	.	.	ENSG00000135144	ENST00000257600	T	0.23950	1.88	4.51	4.51	0.55191	.	0.163309	0.52532	D	0.000067	T	0.57592	0.2064	M	0.91818	3.245	0.80722	D	1	D	0.64830	0.994	D	0.64144	0.922	T	0.70407	-0.4880	10	0.87932	D	0	-0.2098	15.9804	0.80105	0.0:0.0:1.0:0.0	.	546	Q86Y01	DTX1_HUMAN	N	546	ENSP00000257600:K546N	ENSP00000257600:K546N	K	+	3	2	DTX1	112017602	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.780000	0.85658	2.042000	0.60477	0.561000	0.74099	AAG		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		Missense_Mutation	6	50	1	0	0.000157383	1	0.000164378	6	50				
LECT1	11061	broad.mit.edu	37	13	53298165	53298165	+	Silent	SNP	G	G	A			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr13:53298165G>A	ENST00000377962.3	-	4	513	c.435C>T	c.(433-435)ggC>ggT	p.G145G	LECT1_ENST00000448904.2_Silent_p.G145G			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	145	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGGTCACGGCGCCCACCTCAG	0.483																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(433-435)ggC>ggT		leukocyte cell derived chemotaxin 1							154.0	113.0	127.0					13																	53298165		2203	4300	6503	SO:0001819	synonymous_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53298165G>A	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.435C>T	13.37:g.53298165G>A						LECT1_ENST00000377962.3_Silent_p.G145G	p.G145G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	4	545	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	145			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	ENST00000377962.3	37	c.435C>T	CCDS9437.1																																																																																				0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			10	13	0	0	0	1	0	10	13				
EPC2	26122	broad.mit.edu	37	2	149447887	149447887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:149447887delC	ENST00000258484.6	+	2	292	c.258delC	c.(256-258)tacfs	p.Y86fs	EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	86					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAACTATTACAATCGCTTGT	0.348																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(256-258)tafs		enhancer of polycomb homolog 2 (Drosophila)							193.0	184.0	187.0					2																	149447887		1878	4119	5997	SO:0001589	frameshift_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149447887delC	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.258delC	2.37:g.149447887delC	ENSP00000258484:p.Tyr86fs					EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	2	292	+			86					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Frame_Shift_Del	DEL	ENST00000258484.6	37	c.258delC	CCDS46422.1																																																																																				0.348	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		19	114						19	114	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		6	4						6	4	---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49580473	49580476	+	Frame_Shift_Del	DEL	GAAG	GAAG	-	rs372306943		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49580473_49580476delGAAG	ENST00000295766.5	-	2	623_626	c.144_147delCTTC	c.(142-147)tccttcfs	p.SF48fs	TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000301071.7_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	48					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AGAAGGTGTTGAAGGAATCATCTC	0.559																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(142-147)tcfs		tubulin, alpha 1a																																				SO:0001589	frameshift_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580473_49580476delGAAG	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.144_147delCTTC	12.37:g.49580473_49580476delGAAG	ENSP00000439020:p.Ser48fs					TUBA1A_ENST00000295766.5_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	p.SF48fs	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			2	488_491	-			48					A8K0B8|G3V1U9|P04687|P05209	Frame_Shift_Del	DEL	ENST00000295766.5	37	c.144_147delCTTC	CCDS58227.1																																																																																				0.559	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		21	117						21	117	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	8						4	8	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71382018	71382018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr17:71382018delG	ENST00000392650.3	-	32	4537	c.4537delC	c.(4537-4539)cacfs	p.H1513fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1513	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGTGGTGTGGGGCGTCACG	0.632																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4537-4539)acfs		sidekick cell adhesion molecule 2							79.0	69.0	73.0					17																	71382018		2203	4300	6503	SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71382018delG	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4537delC	17.37:g.71382018delG	ENSP00000376421:p.His1513fs					SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			32	4537	-			1513			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Del	DEL	ENST00000392650.3	37	c.4537delC	CCDS45769.1																																																																																				0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		2	4						2	4	---	---	---	---
