#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
ARHGEF10L	55160	broad.mit.edu	37	1	17942653	17942653	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:17942653C>T	ENST00000361221.3	+	9	950	c.791C>T	c.(790-792)gCc>gTc	p.A264V	ARHGEF10L_ENST00000375408.3_5'Flank|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A225V|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.A22V|ARHGEF10L_ENST00000167825.4_5'Flank|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A225V|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A264V|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	264						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACACGGATGGCCGTGATGCGC	0.637																																						uc001ban.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(790-792)gCc>gTc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							124.0	105.0	112.0					1																	17942653		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17942653C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.791C>T	1.37:g.17942653C>T	ENSP00000355060:p.Ala264Val					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A225V|ARHGEF10L_uc001bao.3_Missense_Mutation_p.A225V|ARHGEF10L_uc001bap.3_Missense_Mutation_p.A225V|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.A22V|ARHGEF10L_uc001baq.3_Missense_Mutation_p.A30V|ARHGEF10L_uc010ocs.2_5'Flank|ARHGEF10L_uc001bar.3_5'Flank	p.A264V	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	8	950	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	264					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.791C>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847254	0.91277	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420	T;T;T;T;T	0.63744	0.28;0.36;0.13;0.36;-0.06	5.19	5.19	0.71726	.	0.135509	0.49305	D	0.000153	T	0.75554	0.3865	M	0.68317	2.08	0.80722	D	1	P;D;D;D;D;D	0.71674	0.752;0.998;0.994;0.998;0.982;0.97	P;D;P;D;P;P	0.63488	0.507;0.915;0.87;0.915;0.853;0.718	T	0.77928	-0.2404	10	0.62326	D	0.03	-28.1781	15.4217	0.75018	0.0:1.0:0.0:0.0	.	22;264;30;225;225;264	B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	V	264;225;264;225;22	ENSP00000355060:A264V;ENSP00000399401:A225V;ENSP00000394621:A264V;ENSP00000364564:A225V;ENSP00000364569:A22V	ENSP00000355060:A264V	A	+	2	0	ARHGEF10L	17815240	1.000000	0.71417	0.534000	0.28014	0.837000	0.47467	6.948000	0.75965	2.409000	0.81822	0.563000	0.77884	GCC		0.637	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
CFAP57	149465	broad.mit.edu	37	1	43665064	43665064	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:43665064T>A	ENST00000372492.4	+	9	1756	c.1432T>A	c.(1432-1434)Tcc>Acc	p.S478T	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.S478T	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		478										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTATAGTGTTCCTTTAGCAA	0.463																																						uc021omk.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1432-1434)Tcc>Acc		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.							242.0	201.0	215.0					1																	43665064		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43665064T>A																												ENST00000372492.4:c.1432T>A	1.37:g.43665064T>A	ENSP00000361570:p.Ser478Thr					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S467T|WDR65_uc001ciq.2_Missense_Mutation_p.S478T|WDR65_uc001cip.2_Missense_Mutation_p.S478T	p.S478T	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			8	1578	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	478					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1432T>A		.	.	.	.	.	.	.	.	.	.	T	14.82	2.648372	0.47258	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.40225	1.04;3.24	5.4	-10.8	0.00216	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.853630	0.10682	N	0.646266	T	0.25005	0.0607	L	0.37750	1.13	0.09310	N	0.999996	B;B	0.14012	0.001;0.009	B;B	0.21360	0.002;0.034	T	0.27606	-1.0069	10	0.15952	T	0.53	.	13.5836	0.61917	0.0697:0.0599:0.6607:0.2097	.	478;478	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	T	478	ENSP00000361570:S478T;ENSP00000435310:S478T	ENSP00000361570:S478T	S	+	1	0	WDR65	43437651	0.097000	0.21791	0.086000	0.20670	0.922000	0.55478	0.536000	0.23129	-1.711000	0.01395	-0.488000	0.04728	TCC		0.463	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
COL24A1	255631	broad.mit.edu	37	1	86250051	86250051	+	Splice_Site	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:86250051T>C	ENST00000370571.2	-	49	4426		c.e49-2		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGTTCACCCTATGGGTAGAA	0.453																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e49-1		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							75.0	70.0	72.0					1																	86250051		1889	4119	6008	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86250051T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4060-2A>G	1.37:g.86250051T>C						COL24A1_uc001dli.3_Splice_Site_p.G490_splice|COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.G654_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site	p.G1354_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	49	4135	-			1354			Collagen-like 16.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.4060_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098987	0.56183	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0734	0.72056	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86022639	1.000000	0.71417	0.904000	0.35570	0.560000	0.35617	5.926000	0.70070	1.959000	0.56917	0.482000	0.46254	.		0.453	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron
FCRL1	115350	broad.mit.edu	37	1	157771270	157771270	+	Silent	SNP	G	G	A	rs200953593		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:157771270G>A	ENST00000368176.3	-	6	1051	c.984C>T	c.(982-984)taC>taT	p.Y328Y	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Silent_p.Y328Y	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTTGAGGCCGTAGCAAAATA	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19106	0.0		0.0	False		,,,				2504	0.0				GBM(54;482 1003 11223 30131 35730)	uc001frg.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(982-984)taC>taT		Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	73.0	74.0	73.0		,984,984	-1.3	0.6	1		73	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	FCRL1	NM_001159397.1,NM_001159398.1,NM_052938.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,328/429,328/430	157771270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771270G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.984C>T	1.37:g.157771270G>A						FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.Y328Y|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	p.Y328Y	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1097	-	all_hematologic(112;0.0378)		328					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.984C>T	CCDS1170.1																																																																																				0.433	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	
F5	2153	broad.mit.edu	37	1	169487691	169487691	+	Missense_Mutation	SNP	G	G	A	rs118203910		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:169487691G>A	ENST00000367797.3	-	23	6505	c.6304C>T	c.(6304-6306)Cgt>Tgt	p.R2102C	F5_ENST00000367796.3_Missense_Mutation_p.R2107C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2102	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> C (in FA5D; impairs both factor V secretion and activity). {ECO:0000269|PubMed:12393490}.|R -> H (in THPH2). {ECO:0000269|PubMed:11858490}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.R2102C(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCATTCAGACGGGCACGGAAG	0.488																																						uc001ggg.1																			1	Substitution - Missense(1)	p.R2102C(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	GRCh37	CM030037	F5	M	rs118203910	c.(6304-6306)Cgt>Tgt		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						133.0	132.0	132.0					1																	169487691		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169487691G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6304C>T	1.37:g.169487691G>A	ENSP00000356771:p.Arg2102Cys						p.R2102C	NM_000130	NP_000121	P12259	FA5_HUMAN			22	6449	-	all_hematologic(923;0.208)		2102		R -> C (in FA5D; impairs both factor V secretion and activity).|R -> H (in THR-APCR).	F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6304C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288255	0.80803	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98550	-4.99;-4.99	5.67	4.73	0.59995	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.97465	4.01	0.44976	D	0.997996	D	0.89917	1.0	D	0.91635	0.999	D	0.98715	1.0706	9	0.87932	D	0	-14.6482	13.7675	0.63004	0.0:0.0:0.8461:0.1539	.	2102	P12259	FA5_HUMAN	C	2102;2107	ENSP00000356771:R2102C;ENSP00000356770:R2107C	ENSP00000356770:R2107C	R	-	1	0	F5	167754315	1.000000	0.71417	0.963000	0.40424	0.924000	0.55760	6.608000	0.74168	1.347000	0.45714	0.591000	0.81541	CGT		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
CAMSAP2	23271	broad.mit.edu	37	1	200818182	200818182	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:200818182G>A	ENST00000236925.4	+	12	2367	c.2318G>A	c.(2317-2319)cGt>cAt	p.R773H	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R762H|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R746H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	773					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAAAGAGGCGTGCTATAGAA	0.448																																						uc001gvl.3																			0											c.(2317-2319)cGt>cAt		Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.							66.0	73.0	71.0					1																	200818182		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200818182G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2318G>A	1.37:g.200818182G>A	ENSP00000236925:p.Arg773His					CAMSAP2_uc001gvk.3_Missense_Mutation_p.R762H|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R746H	p.R773H	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			11	2588	+			773					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2318G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.964909	0.74131	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.71461	-0.57;-0.57;-0.57	5.41	5.41	0.78517	.	0.105267	0.64402	D	0.000010	D	0.85026	0.5603	M	0.79614	2.46	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.995	D	0.86637	0.1889	10	0.87932	D	0	-16.3322	19.1864	0.93645	0.0:0.0:1.0:0.0	.	746;773;762	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	762;746;773	ENSP00000351684:R762H;ENSP00000416800:R746H;ENSP00000236925:R773H	ENSP00000236925:R773H	R	+	2	0	CAMSAP1L1	199084805	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.765000	0.85310	2.527000	0.85204	0.484000	0.47621	CGT		0.448	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
APBB1IP	54518	broad.mit.edu	37	10	26825091	26825091	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:26825091G>A	ENST00000376236.4	+	10	1444	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	330	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGGAAAAGGCGCTATTTTCTT	0.348																																						uc001iss.3																			0		p.R330C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(988-990)cGc>cAc		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.							103.0	120.0	114.0					10																	26825091		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825091G>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.989G>A	10.37:g.26825091G>A	ENSP00000365411:p.Arg330His					APBB1IP_uc009xks.1_Missense_Mutation_p.R330H	p.R330H	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			9	1310	+			330			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.989G>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966259	0.74131	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.28255	1.62	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.046152	0.85682	D	0.000000	T	0.29423	0.0733	N	0.19112	0.55	0.80722	D	1	B;D	0.55172	0.195;0.97	B;P	0.48952	0.275;0.596	T	0.01839	-1.1263	10	0.12430	T	0.62	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	330;330	B4E100;Q7Z5R6	.;AB1IP_HUMAN	H	330	ENSP00000365411:R330H	ENSP00000365411:R330H	R	+	2	0	APBB1IP	26865097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.814000	0.96858	0.655000	0.94253	CGC		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
HKDC1	80201	broad.mit.edu	37	10	71025477	71025477	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:71025477C>T	ENST00000354624.5	+	17	2642	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	837	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGTGCTGGCCTGGCCGCTAT	0.642																																						uc001jpf.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2509-2511)Ctg>Ttg		Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.							33.0	35.0	34.0					10																	71025477		2203	4299	6502	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71025477C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2509C>T	10.37:g.71025477C>T						HKDC1_uc010qje.2_Silent_p.L700L|HKDC1_uc009xqb.3_Non-coding_Transcript	p.L837L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			16	2642	+			837					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.2509C>T	CCDS7288.1																																																																																				0.642	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	C	T	rs151335014		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:98155083C>T	ENST00000357947.3	-	13	1812	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	529	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T529T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527																																						uc001kml.2																			1	Substitution - coding silent(1)	p.T529T(2)	lung(1)	NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1585-1587)acG>acA		Homo sapiens tolloid-like 2 (TLL2), mRNA.				1,4405	2.1+/-5.4	0,1,2202	72.0	73.0	73.0		1587	-10.7	0.0	10	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	TLL2	NM_012465.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		529/1016	98155083	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155083C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1587G>A	10.37:g.98155083C>T						TLL2_uc009xvf.2_Silent_p.T507T	p.T529T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	12	1828	-		Colorectal(252;0.0846)	529			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.1587G>A	CCDS7449.1																																																																																				0.527	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
OR52K2	119774	broad.mit.edu	37	11	4471261	4471261	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:4471261C>A	ENST00000325719.4	+	1	737	c.692C>A	c.(691-693)gCc>gAc	p.A231D		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACTGCTTGCCTCTCAGGAG	0.463																																						uc001lyz.2																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25						c.(691-693)gCc>gAc		Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.							287.0	247.0	261.0					11																	4471261		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471261C>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.692C>A	11.37:g.4471261C>A	ENSP00000318956:p.Ala231Asp						p.A231D	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	737	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	231					A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.692C>A	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287904	0.40494	.	.	ENSG00000181963	ENST00000325719	T	0.38240	1.15	4.02	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.137111	0.32970	N	0.005439	T	0.52008	0.1708	M	0.90650	3.135	0.29547	N	0.851664	P	0.48350	0.909	P	0.51170	0.661	T	0.57528	-0.7796	10	0.87932	D	0	.	6.7066	0.23254	0.0:0.7187:0.1802:0.1011	.	231	Q8NGK3	O52K2_HUMAN	D	231	ENSP00000318956:A231D	ENSP00000318956:A231D	A	+	2	0	OR52K2	4427837	0.000000	0.05858	0.999000	0.59377	0.525000	0.34531	0.005000	0.13129	0.906000	0.36621	0.485000	0.47835	GCC		0.463	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172	
SLC22A11	55867	broad.mit.edu	37	11	64329818	64329818	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:64329818G>A	ENST00000301891.4	+	4	1106	c.732G>A	c.(730-732)gcG>gcA	p.A244A	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.A244A|SLC22A11_ENST00000377581.3_Silent_p.A244A	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	244					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCAGGCGGCGCTGGGCGGCC	0.632																																						uc001oai.3																			0		p.A243V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(730-732)gcG>gcA		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						66.0	70.0	68.0					11																	64329818		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329818G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.732G>A	11.37:g.64329818G>A						SLC22A11_uc001oah.1_Missense_Mutation_p.A210T|SLC22A11_uc009ypq.3_Silent_p.A244A|SLC22A11_uc001oak.1_Silent_p.A73A	p.A244A	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			3	1106	+			244					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.732G>A	CCDS8074.1																																																																																				0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
USP35	57558	broad.mit.edu	37	11	77921415	77921416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:77921415_77921416insG	ENST00000529308.1	+	10	2775_2776	c.2514_2515insG	c.(2515-2517)ggtfs	p.G839fs	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Frame_Shift_Ins_p.G407fs|USP35_ENST00000526425.1_Frame_Shift_Ins_p.G570fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.G425fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	839	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGCCACTGGCTGGTGGCCGTGG	0.634																																						uc021qny.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2512-2517)gctggtfs		Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.																																				SO:0001589	frameshift_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921415_77921416insG	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2516dupG	11.37:g.77921417_77921417dupG	ENSP00000431876:p.Gly839fs					USP35_uc001oze.2_Frame_Shift_Ins_p.A594fs|USP35_uc001ozc.3_Frame_Shift_Ins_p.A406fs|USP35_uc010rsp.2_Frame_Shift_Ins_p.A270fs|USP35_uc001ozd.3_Frame_Shift_Ins_p.A449fs|USP35_uc001ozf.3_Frame_Shift_Ins_p.A569fs	p.A838fs	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	2870_2871	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		838						Frame_Shift_Ins	INS	ENST00000529308.1	37	c.2514_2515insG	CCDS41693.1																																																																																				0.634	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
KRT1	3848	broad.mit.edu	37	12	53072470	53072470	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:53072470G>T	ENST00000252244.3	-	2	720	c.662C>A	c.(661-663)tCc>tAc	p.S221Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	221	Linker 1.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTTCTAGTGGAGGTATCTAC	0.468																																						uc001sau.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(661-663)tCc>tAc		Homo sapiens keratin 1 (KRT1), mRNA.							109.0	100.0	103.0					12																	53072470		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53072470G>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.662C>A	12.37:g.53072470G>T	ENSP00000252244:p.Ser221Tyr					KRT1_uc001sav.1_Missense_Mutation_p.S221Y	p.S221Y	NM_006121	NP_006112	P04264	K2C1_HUMAN			1	721	-			221			Linker 1.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.662C>A	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660978	0.67700	.	.	ENSG00000167768	ENST00000252244	D	0.84589	-1.87	4.78	4.78	0.61160	Filament (1);	.	.	.	.	D	0.92652	0.7665	M	0.86343	2.81	0.09310	N	1	D	0.69078	0.997	D	0.73380	0.98	D	0.85629	0.1269	9	0.72032	D	0.01	.	12.651	0.56761	0.0801:0.0:0.9199:0.0	.	221	P04264	K2C1_HUMAN	Y	221	ENSP00000252244:S221Y	ENSP00000252244:S221Y	S	-	2	0	KRT1	51358737	0.011000	0.17503	0.021000	0.16686	0.197000	0.23852	1.773000	0.38563	2.370000	0.80446	0.643000	0.83706	TCC		0.468	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
PMEL	6490	broad.mit.edu	37	12	56355103	56355103	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:56355103T>C	ENST00000548747.1	-	3	994	c.332A>G	c.(331-333)aAt>aGt	p.N111S	PMEL_ENST00000550447.1_Missense_Mutation_p.N74S|PMEL_ENST00000548493.1_Missense_Mutation_p.N111S|PMEL_ENST00000360714.4_Missense_Mutation_p.N111S|PMEL_ENST00000536427.1_Missense_Mutation_p.N111S|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.N111S|PMEL_ENST00000449260.2_Missense_Mutation_p.N111S			P40967	PMEL_HUMAN	premelanosome protein	111					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTACTCACCATTGATGATGGT	0.468																																						uc001sir.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(331-333)aAt>aGt		Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.							169.0	151.0	157.0					12																	56355103		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355103T>C	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.332A>G	12.37:g.56355103T>C	ENSP00000448828:p.Asn111Ser					PMEL_uc001siq.3_Missense_Mutation_p.N111S|PMEL_uc010spx.2_Intron|PMEL_uc001sip.3_Missense_Mutation_p.N111S	p.N111S	NM_006928	NP_008859	P40967	PMEL_HUMAN			2	995	-			111					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.332A>G	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	t	18.80	3.701199	0.68501	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.33216	2.94;2.96;2.96;2.96;2.93;2.63;1.42;2.39	5.15	5.15	0.70609	.	0.119263	0.38326	N	0.001729	T	0.30386	0.0763	M	0.66378	2.025	0.80722	D	1	P;P	0.43094	0.629;0.799	B;B	0.33521	0.165;0.079	T	0.21724	-1.0237	10	0.49607	T	0.09	-4.2527	14.2725	0.66159	0.0:0.0:0.0:1.0	.	111;111	P40967-2;P40967	.;PMEL_HUMAN	S	111;111;111;111;111;111;74;111;111;111;114	ENSP00000402758:N111S;ENSP00000449690:N111S;ENSP00000448828:N111S;ENSP00000447374:N111S;ENSP00000353940:N111S;ENSP00000438695:N111S;ENSP00000447732:N111S;ENSP00000448849:N111S	ENSP00000353940:N111S	N	-	2	0	PMEL	54641370	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.695000	0.74593	2.070000	0.61991	0.523000	0.50628	AAT		0.468	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928	
DAO	1610	broad.mit.edu	37	12	109278787	109278787	+	Missense_Mutation	SNP	G	G	A	rs142698254		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:109278787G>A	ENST00000228476.3	+	2	209	c.5G>A	c.(4-6)cGt>cAt	p.R2H	DAO_ENST00000551281.1_Missense_Mutation_p.R2H	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	2					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GCTGCAATGCGTGTGGTGGTG	0.557													G|||	0	0.0	0.0	0.0	5008	,	,		19734	0.0		0.0	False		,,,				2504	0.0					uc001tnr.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(4-6)cGt>cAt		Homo sapiens D-amino-acid oxidase (DAO), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	108.0	120.0		5	2.6	1.0	12	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DAO	NM_001917.4	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	2/348	109278787	3,13003	2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109278787G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.5G>A	12.37:g.109278787G>A	ENSP00000228476:p.Arg2His					DAO_uc001tnq.4_Missense_Mutation_p.R2H|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.R2H	NM_001917	NP_001908	P14920	OXDA_HUMAN			1	676	+			2					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.5G>A	CCDS9122.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	8.687	0.906551	0.17833	2.27E-4	2.33E-4	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	T;T;T	0.50277	0.83;0.83;0.75	5.44	2.63	0.31362	NAD(P)-binding domain (1);	0.286555	0.40064	N	0.001188	T	0.41259	0.1151	M	0.62209	1.925	0.39091	D	0.961101	B;B	0.19445	0.036;0.007	B;B	0.16722	0.016;0.004	T	0.30563	-0.9974	10	0.32370	T	0.25	-4.2856	8.7396	0.34550	0.3034:0.0:0.6966:0.0	.	2;2	P14920;Q7Z312	OXDA_HUMAN;.	H	2	ENSP00000446853:R2H;ENSP00000228476:R2H;ENSP00000447104:R2H	ENSP00000228476:R2H	R	+	2	0	DAO	107802916	1.000000	0.71417	0.966000	0.40874	0.001000	0.01503	3.532000	0.53553	0.678000	0.31325	-0.967000	0.02615	CGT		0.557	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
MGA	23269	broad.mit.edu	37	15	42054376	42054376	+	Silent	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr15:42054376A>G	ENST00000570161.1	+	21	7560	c.7560A>G	c.(7558-7560)aaA>aaG	p.K2520K	MGA_ENST00000566586.1_Silent_p.K2311K|MGA_ENST00000545763.1_Silent_p.K2311K|MGA_ENST00000219905.7_Silent_p.K2520K|MGA_ENST00000389936.4_Silent_p.K2481K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTATGCAAAACAGCAAGCAC	0.383																																						uc010ucy.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7558-7560)aaA>aaG		Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.							55.0	54.0	54.0					15																	42054376		1885	4111	5996	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42054376A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7560A>G	15.37:g.42054376A>G						MGA_uc010ucz.2_Silent_p.K2311K|MGA_uc010uda.1_Silent_p.K1136K	p.K2520K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	21	7741	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2481					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.7560A>G	CCDS55959.1																																																																																				0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
KIAA0556	23247	broad.mit.edu	37	16	27640063	27640063	+	Silent	SNP	C	C	T	rs562885234		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr16:27640063C>T	ENST00000261588.4	+	4	241	c.222C>T	c.(220-222)aaC>aaT	p.N74N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	74						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTATGTCAACGGTGCCAATT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20468	0.001		0.0	False		,,,				2504	0.0					uc002dow.3																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(220-222)aaC>aaT		Homo sapiens KIAA0556 (KIAA0556), mRNA.							149.0	133.0	139.0					16																	27640063		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27640063C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.222C>T	16.37:g.27640063C>T							p.N74N	NM_015202	NP_056017	O60303	K0556_HUMAN			3	246	+			74					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.222C>T	CCDS32415.1																																																																																				0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
SALL1	6299	broad.mit.edu	37	16	51173066	51173066	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr16:51173066G>A	ENST00000251020.4	-	2	3100	c.3067C>T	c.(3067-3069)Cat>Tat	p.H1023Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.H926Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1023					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTTTGGTATGACTTCTATAG	0.408																																					GBM(103;1352 1446 1855 4775 8890)	uc021tif.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2776-2778)Cat>Tat		Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.							87.0	87.0	87.0					16																	51173066		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173066G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3067C>T	16.37:g.51173066G>A	ENSP00000251020:p.His1023Tyr					SALL1_uc021tid.1_Missense_Mutation_p.H926Y|SALL1_uc021tie.1_Missense_Mutation_p.H1023Y|SALL1_uc010cbv.3_Intron	p.H926Y	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		1	3098	-		all_cancers(37;0.0322)	1023					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2776C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682296	0.47991	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.67523	-0.27;-0.27	5.73	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.69142	0.962	D	0.85866	0.1413	10	0.87932	D	0	.	14.7624	0.69614	0.0693:0.0:0.9307:0.0	.	1023	Q9NSC2	SALL1_HUMAN	Y	1023;926;987	ENSP00000251020:H1023Y;ENSP00000407914:H926Y	ENSP00000251020:H1023Y	H	-	1	0	SALL1	49730567	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.869000	0.99810	1.421000	0.47157	-0.145000	0.13849	CAT		0.408	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
TP53	7157	broad.mit.edu	37	17	7578512	7578513	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:7578512_7578513delTC	ENST00000269305.4	-	5	606_607	c.417_418delGA	c.(415-420)aagaccfs	p.KT139fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.KT139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.KT139fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.KT139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KT139fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KT139fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K139N(9)|p.0?(8)|p.K139K(7)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K139fs*9(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.T140fs*30(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACAGGGCAGGTCTTGGCCAGTT	0.564		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		54	Deletion - In frame(15)|Deletion - Frameshift(10)|Substitution - Missense(9)|Whole gene deletion(8)|Substitution - coding silent(7)|Insertion - Frameshift(2)|Complex - deletion inframe(2)|Complex - frameshift(1)	p.A138V(19)|p.K139N(18)|p.K139K(14)|p.A138P(14)|p.T140I(12)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.A138T(6)|p.K139fs*31(5)|p.A138fs*32(5)|p.K139fs*9(4)|p.K139_T140delKT(4)|p.C135fs*9(3)|p.K139E(3)|p.A138fs*11(3)|p.L137_W146del10(2)|p.K139Q(2)|p.K139R(2)|p.F134_T140>S(2)|p.T140fs*9(2)|p.A138_V143delAKTCPV(2)|p.K139fs*10(2)|p.T140fs*30(2)|p.K139fs*4(2)|p.N131fs*27(2)|p.Q136_K139delQLAK(2)|p.K139_C141>N(2)|p.C135_T140delCQLAKT(2)|p.K139fs*29(2)|p.K139*(2)|p.A138fs*31(1)|p.K46_T47delKT(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.K139T(1)|p.L137_A138insX(1)|p.K132_A138delKMFCQLA(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.A138del(1)|p.K139fs*11(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.A138A(1)|p.T140fs*28(1)|p.A138S(1)	breast(10)|ovary(10)|urinary_tract(6)|NS(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|lung(3)|upper_aerodigestive_tract(2)|skin(2)|oesophagus(2)|stomach(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(415-420)aagaccfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578512_7578513delTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.417_418delGA	17.37:g.7578512_7578513delTC	ENSP00000269305:p.Lys139fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.3_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.2_Frame_Shift_Del_p.K100fs	p.K139fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	611_612	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	139		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.417_418delGA	CCDS11118.1																																																																																				0.564	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PSMC5	5705	broad.mit.edu	37	17	61908445	61908445	+	Silent	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:61908445A>G	ENST00000310144.6	+	8	1037	c.729A>G	c.(727-729)ccA>ccG	p.P243P	PSMC5_ENST00000580864.1_Silent_p.P235P|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Silent_p.P235P|PSMC5_ENST00000581882.1_Silent_p.P235P	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	243	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AACATGCTCCATCTATCATCT	0.562																																						uc002jcb.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(727-729)ccA>ccG		Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.							92.0	88.0	89.0					17																	61908445		2203	4300	6503	SO:0001819	synonymous_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908445A>G	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.729A>G	17.37:g.61908445A>G						PSMC5_uc010ddy.3_Silent_p.P220P|PSMC5_uc002jcd.3_Silent_p.P235P	p.P243P	NM_002805	NP_002796	P62195	PRS8_HUMAN			7	810	+			243					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	c.729A>G	CCDS11645.1																																																																																				0.562	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
SLC25A19	60386	broad.mit.edu	37	17	73274326	73274326	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:73274326C>T	ENST00000402418.3	-	4	1459	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC25A19_ENST00000375261.4_Missense_Mutation_p.A127T|SLC25A19_ENST00000320362.3_Missense_Mutation_p.A184T|SLC25A19_ENST00000416858.2_Missense_Mutation_p.A184T|SLC25A19_ENST00000442286.2_Missense_Mutation_p.A184T|SLC25A19_ENST00000580994.1_Missense_Mutation_p.A184T			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	184					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGGAAGATGGCGATCAAGGTG	0.562																																						uc002jns.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(550-552)Gcc>Acc		Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							114.0	113.0	113.0					17																	73274326		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73274326C>T		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.550G>A	17.37:g.73274326C>T	ENSP00000385312:p.Ala184Thr					SLC25A19_uc010dge.3_Missense_Mutation_p.A127T|SLC25A19_uc002jnv.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnu.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnw.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnt.4_Missense_Mutation_p.A184T	p.A184T	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		3	1460	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		184					E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.550G>A	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724714	0.30593	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.63	4.66	0.58398	Mitochondrial carrier domain (2);	0.095363	0.64402	D	0.000001	D	0.86343	0.5910	M	0.72118	2.19	0.53005	D	0.999962	D;D	0.71674	0.998;0.99	D;P	0.65874	0.939;0.874	D	0.87886	0.2681	10	0.66056	D	0.02	-27.4651	15.6871	0.77421	0.1381:0.8619:0.0:0.0	.	127;184	E9PF74;Q9HC21	.;TPC_HUMAN	T	184;184;184;184;127	ENSP00000397818:A184T;ENSP00000402202:A184T;ENSP00000319574:A184T;ENSP00000385312:A184T;ENSP00000364410:A127T	ENSP00000319574:A184T	A	-	1	0	SLC25A19	70785921	1.000000	0.71417	0.907000	0.35723	0.148000	0.21650	7.422000	0.80217	1.366000	0.46076	-0.175000	0.13238	GCC		0.562	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734	
MUC16	94025	broad.mit.edu	37	19	9026313	9026313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:9026313C>A	ENST00000397910.4	-	14	36876	c.36673G>T	c.(36673-36675)Gct>Tct	p.A12225S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12227					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGGCCAGCAGCTATAGTG	0.438																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36673-36675)Gct>Tct		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							179.0	162.0	167.0					19																	9026313		2023	4190	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9026313C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36673G>T	19.37:g.9026313C>A	ENSP00000381008:p.Ala12225Ser						p.A12225S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			13	36877	-			12227					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36673G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.579	0.475153	0.12521	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	2.35	-4.7	0.03288	.	.	.	.	.	T	0.21761	0.0524	M	0.70595	2.14	.	.	.	P	0.44344	0.833	B	0.32022	0.139	T	0.07751	-1.0756	8	0.87932	D	0	.	4.0701	0.09879	0.0:0.2406:0.3565:0.403	.	12225	B5ME49	.	S	12225	ENSP00000381008:A12225S	ENSP00000381008:A12225S	A	-	1	0	MUC16	8887313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.457000	0.00464	-1.231000	0.02557	0.195000	0.17529	GCT		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
P2RY11	5032	broad.mit.edu	37	19	10224939	10224939	+	Missense_Mutation	SNP	C	C	T	rs200840736		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:10224939C>T	ENST00000321826.4	+	2	834	c.650C>T	c.(649-651)cCg>cTg	p.P217L	PPAN_ENST00000556468.1_Missense_Mutation_p.P637L|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P637L	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	217					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGCGGCCTGCCGCTGCTGCTC	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14757	0.0		0.0	False		,,,				2504	0.0					uc002mnc.3																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(649-651)cCg>cTg		Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.							23.0	25.0	24.0					19																	10224939		2148	4173	6321	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10224939C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.650C>T	19.37:g.10224939C>T	ENSP00000323872:p.Pro217Leu					PPAN-P2RY11_uc002mna.3_Missense_Mutation_p.P637L|PPAN-P2RY11_uc010xla.2_3'UTR	p.P217L	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		1	851	+			0			Brix.		B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.650C>T	CCDS12226.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.51	3.841553	0.71488	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.56103	0.48;0.48;0.48	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.78259	0.4255	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84056	0.0372	10	0.87932	D	0	-13.5815	16.3883	0.83523	0.0:1.0:0.0:0.0	.	217	Q96G91	P2Y11_HUMAN	L	637;637;217	ENSP00000377385:P637L;ENSP00000450710:P637L;ENSP00000323872:P217L	ENSP00000323872:P217L	P	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10085939	1.000000	0.71417	0.208000	0.23602	0.049000	0.14656	7.110000	0.77069	2.411000	0.81874	0.561000	0.74099	CCG		0.701	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566	
HOMER3	9454	broad.mit.edu	37	19	19049592	19049592	+	Missense_Mutation	SNP	T	T	C	rs374896199		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:19049592T>C	ENST00000539827.1	-	2	768	c.116A>G	c.(115-117)tAt>tGt	p.Y39C	HOMER3_ENST00000594794.1_Intron|AC005932.1_ENST00000601106.1_RNA|HOMER3_ENST00000594439.1_Missense_Mutation_p.Y39C|HOMER3_ENST00000221222.11_Missense_Mutation_p.Y39C|HOMER3_ENST00000542541.2_Missense_Mutation_p.Y39C|HOMER3_ENST00000392351.3_Missense_Mutation_p.Y39C|HOMER3_ENST00000355887.6_Missense_Mutation_p.Y39C|HOMER3_ENST00000433218.2_Missense_Mutation_p.Y39C			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	39	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			ATCGTAGAAATAGGAGACAGT	0.602																																						uc002nku.2																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(115-117)tAt>tGt		Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.		T	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,4406		0,0,2203	95.0	69.0	78.0		116,116,116,116	3.8	1.0	19		78	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense	HOMER3	NM_001145721.1,NM_001145722.1,NM_001145724.1,NM_004838.3	194,194,194,194	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/359,39/362,39/326,39/362	19049592	1,13001	2203	4298	6501	SO:0001583	missense	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19049592T>C	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.116A>G	19.37:g.19049592T>C	ENSP00000439937:p.Tyr39Cys					HOMER3_uc010eby.2_Missense_Mutation_p.Y39C|HOMER3_uc010ebz.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkw.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkv.2_Missense_Mutation_p.Y39C	p.Y39C	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		1	769	-			39			WH1.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	ENST00000539827.1	37	c.116A>G	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219797	0.58560	0.0	1.16E-4	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000357832;ENST00000355887	D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	3.85	3.85	0.44370	EVH1 (3);Pleckstrin homology-type (1);	0.059812	0.64402	D	0.000002	D	0.98710	0.9567	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.986;0.992	D	0.99316	1.0905	10	0.87932	D	0	.	12.2619	0.54655	0.0:0.0:0.0:1.0	.	39;39;39	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	C	39	ENSP00000376162:Y39C;ENSP00000396154:Y39C;ENSP00000446026:Y39C;ENSP00000221222:Y39C;ENSP00000439937:Y39C;ENSP00000348150:Y39C	ENSP00000221222:Y39C	Y	-	2	0	HOMER3	18910592	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.217000	0.51184	1.736000	0.51660	0.459000	0.35465	TAT		0.602	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1		
ZNF430	80264	broad.mit.edu	37	19	21240178	21240178	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:21240178A>G	ENST00000261560.5	+	5	1245	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	355					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N355S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGCTTTTAACCAATCCTCA	0.388																																						uc002npj.3																			1	Substitution - Missense(1)	p.N355S(2)	lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1063-1065)aAc>aGc		Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.							54.0	58.0	56.0					19																	21240178		2201	4290	6491	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240178A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1064A>G	19.37:g.21240178A>G	ENSP00000261560:p.Asn355Ser					ZNF430_uc002npk.3_Missense_Mutation_p.N354S	p.N355S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			4	1245	+			355					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1064A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.656201	0.00779	.	.	ENSG00000118620	ENST00000261560	T	0.07216	3.21	1.04	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.00424	-1.51	0.09310	N	1	B;B	0.27700	0.186;0.016	B;B	0.31946	0.138;0.01	T	0.42032	-0.9475	9	0.05721	T	0.95	.	6.2723	0.20961	0.5189:0.4811:0.0:0.0	.	354;355	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	S	355	ENSP00000261560:N355S	ENSP00000261560:N355S	N	+	2	0	ZNF430	21032018	0.000000	0.05858	0.016000	0.15963	0.014000	0.08584	-3.688000	0.00392	-0.631000	0.05560	-0.666000	0.03841	AAC		0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF254	9534	broad.mit.edu	37	19	24310666	24310666	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:24310666A>G	ENST00000357002.4	+	4	1979	c.1864A>G	c.(1864-1866)Aga>Gga	p.R622G	ZNF254_ENST00000342944.6_Missense_Mutation_p.R537G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAACATAAGAGAATTCATAC	0.383																																						uc002nru.3																			0											c.(1864-1866)Aga>Gga		Homo sapiens zinc finger protein 254 (ZNF254), mRNA.							57.0	60.0	59.0					19																	24310666		2202	4300	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310666A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1864A>G	19.37:g.24310666A>G	ENSP00000349494:p.Arg622Gly					ZNF254_uc010xrk.2_Missense_Mutation_p.R537G	p.R622G	NM_203282	NP_975011	O75437	ZN254_HUMAN			3	1998	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	622					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1864A>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347237	0.24426	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.09911	2.93;2.93	0.525	0.525	0.17072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	M	0.73753	2.245	0.26206	N	0.979372	B	0.06786	0.001	B	0.12156	0.007	T	0.25082	-1.0142	9	0.59425	D	0.04	.	5.2926	0.15735	0.9999:0.0:1.0E-4:0.0	.	622	O75437	ZN254_HUMAN	G	537;622;314	ENSP00000445527:R537G;ENSP00000349494:R622G	ENSP00000445527:R537G	R	+	1	2	ZNF254	24102506	0.000000	0.05858	0.151000	0.22473	0.496000	0.33645	-0.540000	0.06106	0.446000	0.26666	0.254000	0.18369	AGA		0.383	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
KMT2B	9757	broad.mit.edu	37	19	36212357	36212357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:36212357G>A	ENST00000222270.7	+	3	2108	c.2108G>A	c.(2107-2109)aGc>aAc	p.S703N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.A559T|KMT2B_ENST00000420124.1_Missense_Mutation_p.S703N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	703	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AACCACCTCAGCCTGCCTCGA	0.662																																						uc021usv.1										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(2107-2109)aGc>aAc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							24.0	31.0	28.0					19																	36212357		2071	4203	6274	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36212357G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2108G>A	19.37:g.36212357G>A	ENSP00000222270:p.Ser703Asn	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.S703N	NM_014727	NP_055542	O14686	MLL2_HUMAN			2	2108	+			834	Missing (in Ref. 1; AAC51734).		Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2108G>A	CCDS46055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.90|17.90	3.502386|3.502386	0.64298|0.64298	.|.	.|.	ENSG00000105663|ENSG00000105663	ENST00000341701|ENST00000222270;ENST00000420124	T|D;D	0.48522|0.85171	0.81|-1.95;-1.95	4.93|4.93	3.89|3.89	0.44902|0.44902	.|.	.|0.136287	.|0.33631	.|N	.|0.004716	T|T	0.75258|0.75258	0.3825|0.3825	N|N	0.19112|0.19112	0.55|0.55	0.29731|0.29731	N|N	0.837911|0.837911	.|B	.|0.10296	.|0.003	.|B	.|0.11329	.|0.006	T|T	0.72181|0.72181	-0.4368|-0.4368	7|10	0.87932|0.72032	D|D	0|0.01	.|.	12.1354|12.1354	0.53968|0.53968	0.0:0.0:0.8281:0.1719|0.0:0.0:0.8281:0.1719	.|.	.|703	.|Q9UMN6	.|MLL4_HUMAN	T|N	559|703	ENSP00000345761:A559T|ENSP00000222270:S703N;ENSP00000398837:S703N	ENSP00000345761:A559T|ENSP00000222270:S703N	A|S	+|+	1|2	0|0	AD000671.1|AD000671.1	40904197|40904197	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.376000|1.376000	0.34306|0.34306	1.323000|1.323000	0.45263|0.45263	-0.234000|-0.234000	0.12200|0.12200	GCC|AGC		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
SIGLEC11	114132	broad.mit.edu	37	19	50461706	50461706	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:50461706C>A	ENST00000447370.2	-	8	1575	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	495					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGCTGTTCCCCTCCAGCAGCT	0.701																																						uc010ybh.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1483-1485)gaG>gaT		Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.							19.0	21.0	20.0					19																	50461706		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461706C>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1485G>T	19.37:g.50461706C>A	ENSP00000412361:p.Glu495Asp					SIGLEC11_uc010ybi.2_Intron	p.E495D	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1576	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	495						Missense_Mutation	SNP	ENST00000447370.2	37	c.1485G>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852230	0.32699	.	.	ENSG00000161640	ENST00000447370	D	0.86097	-2.07	2.69	2.69	0.31865	.	0.364636	0.23479	N	0.047736	D	0.86406	0.5925	L	0.56280	1.765	0.80722	D	1	P	0.41008	0.735	P	0.54060	0.741	D	0.84033	0.0360	9	.	.	.	.	9.4995	0.39008	0.0:1.0:0.0:0.0	.	495	Q96RL6	SIG11_HUMAN	D	495	ENSP00000412361:E495D	.	E	-	3	2	SIGLEC11	55153518	0.001000	0.12720	0.780000	0.31762	0.106000	0.19336	-0.529000	0.06186	1.459000	0.47892	0.556000	0.70494	GAG		0.701	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
ZNF665	79788	broad.mit.edu	37	19	53669083	53669083	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:53669083G>C	ENST00000600412.1	-	2	580	c.465C>G	c.(463-465)aaC>aaG	p.N155K	ZNF665_ENST00000396424.3_Missense_Mutation_p.N220K|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGATTGTTAGGTTTGAACGAA	0.403																																						uc010eqm.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(658-660)aaC>aaG		Homo sapiens zinc finger protein 665 (ZNF665), mRNA.							117.0	126.0	123.0					19																	53669083		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669083G>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.465C>G	19.37:g.53669083G>C	ENSP00000469154:p.Asn155Lys						p.N220K	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	760	-			155					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.660C>G		.	.	.	.	.	.	.	.	.	.	G	4.303	0.055547	0.08291	.	.	ENSG00000197497	ENST00000396424	T	0.35421	1.31	2.44	-3.67	0.04476	.	.	.	.	.	T	0.19446	0.0467	L	0.39692	1.235	0.09310	N	1	P	0.41450	0.75	B	0.35550	0.205	T	0.22626	-1.0211	9	0.16420	T	0.52	.	5.013	0.14322	0.5174:0.1589:0.3237:0.0	.	220	Q9H7R5-2	.	K	220	ENSP00000379702:N220K	ENSP00000379702:N220K	N	-	3	2	ZNF665	58360895	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.298000	0.08265	-0.650000	0.05423	-0.385000	0.06624	AAC		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
USP34	9736	broad.mit.edu	37	2	61515873	61515873	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:61515873C>T	ENST00000398571.2	-	34	4764	c.4688G>A	c.(4687-4689)gGc>gAc	p.G1563D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1563					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTGATTTGCCAGGCCAGGT	0.418																																						uc002sbe.3																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(4687-4689)gGc>gAc		Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.							130.0	124.0	126.0					2																	61515873		1880	4117	5997	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61515873C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4688G>A	2.37:g.61515873C>T	ENSP00000381577:p.Gly1563Asp						p.G1563D	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		33	4710	-			1563					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4688G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284671	0.59867	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03413	3.94	4.89	4.01	0.46588	.	0.053818	0.64402	D	0.000001	T	0.03095	0.0091	N	0.25647	0.755	0.58432	D	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.44726	-0.9309	10	0.12430	T	0.62	.	12.1752	0.54182	0.0:0.9164:0.0:0.0836	.	1563	Q70CQ2	UBP34_HUMAN	D	1411;1411;1563	ENSP00000381577:G1563D	ENSP00000263989:G1411D	G	-	2	0	USP34	61369377	1.000000	0.71417	0.955000	0.39395	0.965000	0.64279	6.080000	0.71299	1.049000	0.40321	0.585000	0.79938	GGC		0.418	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
KDM3A	55818	broad.mit.edu	37	2	86702031	86702031	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:86702031G>A	ENST00000409556.1	+	13	2222	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	KDM3A_ENST00000409064.1_Silent_p.K619K|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Silent_p.K567K|KDM3A_ENST00000312912.5_Silent_p.K619K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	619					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACACAGCAAAGTACATCTTGG	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1855-1857)aaG>aaA		Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.							227.0	201.0	210.0					2																	86702031		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86702031G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1857G>A	2.37:g.86702031G>A						KDM3A_uc010ytj.2_Silent_p.K619K|KDM3A_uc010ytk.2_Silent_p.K567K	p.K619K	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			11	2184	+			619					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.1857G>A	CCDS1990.1																																																																																				0.408	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
TTN	7273	broad.mit.edu	37	2	179414490	179414490	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:179414490G>A	ENST00000591111.1	-	288	87260	c.87036C>T	c.(87034-87036)acC>acT	p.T29012T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T21780T|TTN_ENST00000589042.1_Silent_p.T30653T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.T28085T|TTN_ENST00000359218.5_Silent_p.T21713T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.T21588T			Q8WZ42	TITIN_HUMAN	titin	29012	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGTAGTGGGTTATGGGAG	0.448																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84253-84255)acC>acT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							132.0	118.0	123.0					2																	179414490		1893	4113	6006	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414490G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87036C>T	2.37:g.179414490G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T21780T|TTN_uc021vta.1_Silent_p.T21713T|TTN_uc021vtb.1_Silent_p.T21588T	p.T28085T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		286	84480	-			29012			Fibronectin type-III 104.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.84255C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Ggt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>C		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.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	640	-			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.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
DOCK10	55619	broad.mit.edu	37	2	225729691	225729691	+	Silent	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:225729691C>A	ENST00000258390.7	-	12	1438	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	DOCK10_ENST00000409592.3_Silent_p.G451G	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	457					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACAGAAGCCCCCAAGAGCA	0.458																																						uc010fwz.1																			0		p.G457V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1369-1371)ggG>ggT		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							155.0	150.0	152.0					2																	225729691		1934	4149	6083	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225729691C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1371G>T	2.37:g.225729691C>A						DOCK10_uc002vob.2_Silent_p.G451G|DOCK10_uc002vod.1_Silent_p.G457G	p.G457G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	11	1610	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	457					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.1371G>T	CCDS46528.1																																																																																				0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
NCOA3	8202	broad.mit.edu	37	20	46271028	46271028	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr20:46271028G>T	ENST00000371998.3	+	17	3343	c.3152G>T	c.(3151-3153)aGa>aTa	p.R1051I	NCOA3_ENST00000372004.3_Missense_Mutation_p.R1051I|NCOA3_ENST00000341724.6_Missense_Mutation_p.R981I|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1046I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1051	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTGACGAAAGAGCATTATTG	0.473																																						uc002xtk.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3151-3153)aGa>aTa		Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.							170.0	153.0	159.0					20																	46271028		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46271028G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3152G>T	20.37:g.46271028G>T	ENSP00000361066:p.Arg1051Ile					NCOA3_uc002xtl.3_Missense_Mutation_p.R1051I|NCOA3_uc002xtn.3_Missense_Mutation_p.R1051I|NCOA3_uc010ght.2_Missense_Mutation_p.R1046I|NCOA3_uc002xtm.3_Missense_Mutation_p.R1051I|NCOA3_uc010zyc.2_Missense_Mutation_p.R846I	p.R1051I	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			16	3413	+			1051			Interaction with CREBBP.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.3152G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036195	0.54896	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02606	4.25;4.4;4.4;4.23	5.62	4.67	0.58626	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.238888	0.39834	N	0.001259	T	0.02848	0.0085	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.28026	0.087;0.198;0.045;0.045;0.036;0.045	B;B;B;B;B;B	0.33690	0.117;0.133;0.168;0.117;0.071;0.168	T	0.54918	-0.8221	10	0.52906	T	0.07	-16.0584	9.5999	0.39598	0.071:0.0:0.7878:0.1412	.	1051;1046;1055;1051;1051;1051	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	1051;981;1051;1051;1046	ENSP00000342123:R981I;ENSP00000361073:R1051I;ENSP00000361066:R1051I;ENSP00000361065:R1046I	ENSP00000345671:R1051I	R	+	2	0	NCOA3	45704435	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	6.259000	0.72494	1.512000	0.48834	0.650000	0.86243	AGA		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	C	T	rs368665525		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr20:47266679C>T	ENST00000371941.3	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000396220.1_Silent_p.P961P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2881-2883)ccG>ccA		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.		C		0,4406		0,0,2203	83.0	92.0	89.0		2883	-11.4	0.0	20		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREX1	NM_020820.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		961/1660	47266679	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266679C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2883G>A	20.37:g.47266679C>T						PREX1_uc002xtv.1_Silent_p.P258P	p.P961P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		23	2906	-			961					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.2883G>A	CCDS13410.1																																																																																				0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
SETD2	29072	broad.mit.edu	37	3	47161747	47161747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:47161747C>T	ENST00000409792.3	-	3	4421	c.4379G>A	c.(4378-4380)tGg>tAg	p.W1460*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1460					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACATTCCTTCCATCGCTGTGG	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4345-4347)tGg>tAg		Homo sapiens SET domain containing 2 (SETD2), mRNA.							143.0	135.0	138.0					3																	47161747		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161747C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4379G>A	3.37:g.47161747C>T	ENSP00000386759:p.Trp1460*					SETD2_uc003cqs.3_Nonsense_Mutation_p.W1460*	p.W1449*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	2	4432	-		Acute lymphoblastic leukemia(5;0.0169)	1460					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4346G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	41	8.921004	0.99004	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.18	5.18	0.71444	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	X	1460	.	.	W	-	2	0	SETD2	47136751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.644000	0.83416	2.690000	0.91761	0.563000	0.77884	TGG		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
CCDC51	79714	broad.mit.edu	37	3	48475178	48475178	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:48475178C>T	ENST00000395694.2	-	3	501	c.416G>A	c.(415-417)cGt>cAt	p.R139H	CCDC51_ENST00000447018.1_Missense_Mutation_p.R30H|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30H|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30H|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139H	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	139						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597																																						uc003ctc.3																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(415-417)cGt>cAt		Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.							121.0	133.0	129.0					3																	48475178		2102	4210	6312	SO:0001583	missense	79714					integral to membrane		g.chr3:48475178C>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.416G>A	3.37:g.48475178C>T	ENSP00000379047:p.Arg139His					CCDC51_uc021wxn.1_Missense_Mutation_p.R30H|CCDC51_uc003ctd.3_Missense_Mutation_p.R30H	p.R139H	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	448	-			139					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.416G>A	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	35	5.449652	0.96205	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740;ENST00000446140	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.58504	-0.7625	10	0.87932	D	0	-17.8165	17.7049	0.88306	0.0:1.0:0.0:0.0	.	139	Q96ER9	CCD51_HUMAN	H	30;139;30;139;30;139	ENSP00000412300:R30H;ENSP00000379047:R139H;ENSP00000401194:R30H;ENSP00000379049:R139H;ENSP00000392898:R30H;ENSP00000409494:R139H	ENSP00000379047:R139H	R	-	2	0	CCDC51	48450182	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.449000	0.80643	2.419000	0.82065	0.655000	0.94253	CGT		0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661	
PDZRN3	23024	broad.mit.edu	37	3	73433731	73433731	+	Silent	SNP	G	G	A	rs142044798		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:73433731G>A	ENST00000263666.4	-	10	2100	c.1986C>T	c.(1984-1986)taC>taT	p.Y662Y	PDZRN3_ENST00000462146.2_Silent_p.Y319Y|PDZRN3_ENST00000479530.1_Silent_p.Y379Y|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.Y384Y|PDZRN3_ENST00000466780.1_Silent_p.Y319Y	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	662					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTACAGGCCGTAAGGGGTGG	0.657																																						uc003dpl.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1984-1986)taC>taT		Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.		G		0,4406		0,0,2203	43.0	47.0	45.0		1986	3.0	0.4	3	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZRN3	NM_015009.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		662/1067	73433731	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433731G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1986C>T	3.37:g.73433731G>A						PDZRN3_uc011bgh.1_Silent_p.Y319Y|PDZRN3_uc010hoe.1_Silent_p.Y360Y|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.Y379Y|PDZRN3_uc011bgg.1_Silent_p.Y382Y	p.Y662Y	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	2082	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	662					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1986C>T	CCDS33789.1																																																																																				0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
GCSAM	257144	broad.mit.edu	37	3	111842417	111842417	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:111842417G>A	ENST00000308910.4	-	6	606	c.422C>T	c.(421-423)gCc>gTc	p.A141V	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.A143V	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	141					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										TGGGGATCGGGCATGCCTGGG	0.502																																						uc021xcl.1																			0				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						c.(427-429)gCc>gTc		Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							144.0	148.0	147.0					3																	111842417		2203	4300	6503	SO:0001583	missense	257144					mitochondrion		g.chr3:111842417G>A	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.422C>T	3.37:g.111842417G>A	ENSP00000309487:p.Ala141Val					C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.A141V|GCET2_uc021xcm.1_Missense_Mutation_p.A126V	p.A143V	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN			5	613	-			141					C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.428C>T	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	G	8.093	0.775009	0.16051	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580	.	.	.	3.75	0.888	0.19206	.	1.659630	0.03451	N	0.210753	T	0.23649	0.0572	N	0.22421	0.69	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.15378	-1.0439	9	0.16420	T	0.52	-0.0818	5.819	0.18516	0.3631:0.0:0.6369:0.0	.	141	Q8N6F7	GCET2_HUMAN	V	141;143;126;124	.	ENSP00000309487:A141V	A	-	2	0	GCET2	113325107	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.212000	0.09319	0.170000	0.19704	0.655000	0.94253	GCC		0.502	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	
CCDC149	91050	broad.mit.edu	37	4	24838869	24838869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr4:24838869C>T	ENST00000389609.4	-	7	786	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.A215T|CCDC149_ENST00000428116.2_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	160										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				ATACACAGGGCGTCCACGTCA	0.582																																						uc003grc.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(643-645)Gcc>Acc		Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.							141.0	96.0	111.0					4																	24838869		2203	4300	6503	SO:0001583	missense	91050							g.chr4:24838869C>T		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.643G>A	4.37:g.24838869C>T	ENSP00000374260:p.Ala215Thr					CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Missense_Mutation_p.A215T|CCDC149_uc003gre.3_Missense_Mutation_p.A160T|CCDC149_uc003gra.2_Missense_Mutation_p.A88T	p.A215T	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN			5	742	-		Breast(46;0.173)	215					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	c.643G>A	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	C	36	5.902357	0.97087	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.96;0.995	T	0.75850	-0.3172	9	0.56958	D	0.05	-19.1553	20.6439	0.99570	0.0:1.0:0.0:0.0	.	160;215	Q6ZUS6;G5EA04	CC149_HUMAN;.	T	215;215;139;160	.	ENSP00000371550:A139T	A	-	1	0	CCDC149	24447967	1.000000	0.71417	0.946000	0.38457	0.966000	0.64601	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GCC		0.582	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463	
SLC4A4	8671	broad.mit.edu	37	4	72319251	72319251	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr4:72319251G>A	ENST00000264485.5	+	12	1479	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	SLC4A4_ENST00000340595.3_Silent_p.A410A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.A454A|SLC4A4_ENST00000512686.1_Silent_p.A410A|SLC4A4_ENST00000425175.1_Silent_p.A454A	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	454					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGAGGAAAGCGCCATTTTTTG	0.343																																						uc010iic.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1360-1362)gcG>gcA		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.							201.0	204.0	203.0					4																	72319251		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319251G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1362G>A	4.37:g.72319251G>A						SLC4A4_uc003hfy.3_Silent_p.A454A|SLC4A4_uc010iib.3_Silent_p.A454A|SLC4A4_uc003hfz.3_Silent_p.A454A|SLC4A4_uc003hgc.4_Silent_p.A410A|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.A332A|SLC4A4_uc003hgb.3_Silent_p.A410A	p.A454A	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1479	+			454					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1362G>A	CCDS43236.1																																																																																				0.343	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
ADAMTS16	170690	broad.mit.edu	37	5	5182257	5182257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:5182257delC	ENST00000274181.7	+	4	740	c.602delC	c.(601-603)tccfs	p.S201fs	ADAMTS16_ENST00000511368.1_Frame_Shift_Del_p.S201fs	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	201					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCTCGCCATCCCACGTACTG	0.567																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(601-603)tccfs		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							54.0	56.0	55.0					5																	5182257		1935	4134	6069	SO:0001589	frameshift_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182257delC	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.602delC	5.37:g.5182257delC	ENSP00000274181:p.Ser201fs					ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.S201fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.S201fs	p.S201fs	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	740	+			201					C6G490|Q8IVE2	Frame_Shift_Del	DEL	ENST00000274181.7	37	c.602delC	CCDS43299.1																																																																																				0.567	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
SLCO6A1	133482	broad.mit.edu	37	5	101813473	101813473	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:101813473T>C	ENST00000506729.1	-	3	880	c.709A>G	c.(709-711)Act>Gct	p.T237A	SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T237A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCTGCACAGTCTGCCCAAGG	0.393																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(709-711)Act>Gct		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							171.0	163.0	165.0					5																	101813473		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101813473T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.709A>G	5.37:g.101813473T>C	ENSP00000421339:p.Thr237Ala					SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.T237A|SLCO6A1_uc003knq.3_Intron	p.T237A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	881	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	237					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.709A>G	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856373	0.17106	.	.	ENSG00000205359	ENST00000506729;ENST00000379807	T;T	0.79454	-1.27;-1.27	4.93	-4.1	0.03940	Major facilitator superfamily domain, general substrate transporter (1);	3.403760	0.00604	N	0.000398	T	0.63988	0.2558	L	0.36672	1.1	0.09310	N	1	B	0.19073	0.033	B	0.23150	0.044	T	0.37220	-0.9715	10	0.33940	T	0.23	.	0.5222	0.00614	0.4125:0.1743:0.141:0.2723	.	237	Q86UG4	SO6A1_HUMAN	A	237	ENSP00000421339:T237A;ENSP00000369135:T237A	ENSP00000369135:T237A	T	-	1	0	SLCO6A1	101841372	0.009000	0.17119	0.000000	0.03702	0.121000	0.20230	-0.024000	0.12435	-0.981000	0.03520	0.482000	0.46254	ACT		0.393	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
LARP1	23367	broad.mit.edu	37	5	154169931	154169932	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:154169931_154169932delGC	ENST00000336314.4	+	2	276_277	c.252_253delGC	c.(250-255)cagcgcfs	p.R85fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	162					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCTAAACAGCGCAAAGGCAG	0.52																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(250-255)cagcgcfs		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154169931_154169932delGC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.252_253delGC	5.37:g.154169933_154169934delGC	ENSP00000336721:p.Arg85fs					LARP1_uc021ygh.1_5'UTR|LARP1_uc021ygi.1_Frame_Shift_Del_p.Q161fs|LARP1_uc010jie.1_5'UTR	p.Q84fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	276_277	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	161					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.252_253delGC	CCDS4328.1																																																																																				0.520	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
MGAT4B	11282	broad.mit.edu	37	5	179225986	179225986	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:179225986T>G	ENST00000292591.7	-	11	1635	c.1285A>C	c.(1285-1287)Acc>Ccc	p.T429P	MGAT4B_ENST00000337755.5_Missense_Mutation_p.T444P|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	429					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGCAGGGGTGAAGGCCCAG	0.627																																					GBM(13;414 434 4098 22176 23230)	uc003mkr.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(1330-1332)Acc>Ccc		Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.							114.0	109.0	111.0					5																	179225986		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179225986T>G	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1285A>C	5.37:g.179225986T>G	ENSP00000292591:p.Thr429Pro					MGAT4B_uc003mkp.3_Missense_Mutation_p.T283P|MGAT4B_uc003mkq.3_Missense_Mutation_p.H204P|MGAT4B_uc003mks.3_Missense_Mutation_p.T429P|MIR1229_uc021yjg.1_5'Flank	p.T444P	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	2094	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	429					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.1330A>C	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.450090|2.450090	0.43531|0.43531	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000337755;ENST00000292591;ENST00000519836	.|T;T	.|0.32988	.|1.43;1.44	4.17|4.17	3.01|3.01	0.34805|0.34805	.|.	.|0.060000	.|0.64402	.|D	.|0.000003	T|T	0.44685|0.44685	0.1305|0.1305	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.997;1.0;0.999	.|P;D;D	.|0.78314	.|0.879;0.963;0.991	T|T	0.19128|0.19128	-1.0315|-1.0315	5|10	.|0.42905	.|T	.|0.14	-10.3389|-10.3389	9.4809|9.4809	0.38900|0.38900	0.0:0.0843:0.0:0.9157|0.0:0.0843:0.0:0.9157	.|.	.|429;444;428	.|Q9UQ53;A8MPR0;Q9UQ53-2	.|MGT4B_HUMAN;.;.	P|P	253;209|444;429;297	.|ENSP00000338487:T444P;ENSP00000292591:T429P	.|ENSP00000292591:T429P	H|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179158592|179158592	1.000000|1.000000	0.71417|0.71417	0.826000|0.826000	0.32828|0.32828	0.953000|0.953000	0.61014|0.61014	7.805000|7.805000	0.86005|0.86005	0.663000|0.663000	0.31027|0.31027	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	
MOG	4340	broad.mit.edu	37	6	29640903	29640903	+	IGR	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:29640903A>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.S309P|ZFP57_ENST00000376883.1_Missense_Mutation_p.S309P|ZFP57_ENST00000488757.1_Missense_Mutation_p.S329P	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTTCCTGGGACCTGGCCACT	0.562																																						uc011dlw.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(985-987)Tcc>Ccc		Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.							119.0	132.0	128.0					6																	29640903		1218	2506	3724	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640903A>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640903A>G							p.S329P	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			3	1136	-			245					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.985T>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813512	0.32053	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05786	3.39;3.62;3.62	4.17	-4.24	0.03777	.	1.561250	0.04080	N	0.309418	T	0.01661	0.0053	L	0.40543	1.245	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.13407	0.009;0.009	T	0.49000	-0.8984	10	0.87932	D	0	-0.9944	3.7375	0.08517	0.3519:0.2624:0.0:0.3858	.	329;309	Q9NU63-3;Q9NU63-2	.;.	P	329;309;309	ENSP00000418259:S329P;ENSP00000366078:S309P;ENSP00000366080:S309P	ENSP00000366078:S309P	S	-	1	0	ZFP57	29748882	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.029000	0.12329	-0.717000	0.04955	-0.490000	0.04691	TCC		0.562	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
RSPO3	84870	broad.mit.edu	37	6	127471594	127471594	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:127471594T>A	ENST00000356698.4	+	3	902	c.313T>A	c.(313-315)Tgt>Agt	p.C105S	RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	105					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CTGTGATACCTGTTTCAACAA	0.373																																						uc003qas.1																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(313-315)Tgt>Agt		Homo sapiens R-spondin 3 (RSPO3), mRNA.							80.0	80.0	80.0					6																	127471594		2203	4299	6502	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127471594T>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.313T>A	6.37:g.127471594T>A	ENSP00000349131:p.Cys105Ser					RSPO3_uc003qar.3_Missense_Mutation_p.C105S	p.C105S	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	2	603	+			105					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.313T>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750002	0.89753	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.84516	-1.86;-1.86	5.73	5.73	0.89815	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.95193	0.8310	10	0.87932	D	0	-27.755	16.3143	0.82909	0.0:0.0:0.0:1.0	.	105;105	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	S	105	ENSP00000349131:C105S;ENSP00000357300:C105S	ENSP00000349131:C105S	C	+	1	0	RSPO3	127513287	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.997000	0.88414	2.313000	0.78055	0.454000	0.30748	TGT		0.373	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
PLEKHG1	57480	broad.mit.edu	37	6	151151882	151151882	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:151151882C>T	ENST00000358517.2	+	15	1846	c.1635C>T	c.(1633-1635)agC>agT	p.S545S	PLEKHG1_ENST00000367328.1_Silent_p.S545S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	545							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGTTTCCCAGCCGACGGTCCC	0.517																																						uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1810-1812)agC>agT		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							96.0	82.0	87.0					6																	151151882		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151151882C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1635C>T	6.37:g.151151882C>T						PLEKHG1_uc011eel.1_Silent_p.S585S|PLEKHG1_uc003qny.1_Silent_p.S545S|PLEKHG1_uc003qnz.2_Silent_p.S545S	p.S604S	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	14	1900	+			545					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.1812C>T	CCDS34552.1																																																																																				0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	A	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:160157288A>T	ENST00000358372.4	+	2	1749		c.e2-1		WTAP_ENST00000337387.4_Splice_Site|WTAP_ENST00000494513.1_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318																																						uc003qsl.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e2-2		Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.							88.0	100.0	96.0					6																	160157288		2203	4299	6502	SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160157288A>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.-8-1A>T	6.37:g.160157288A>T						WTAP_uc010kjx.3_Splice_Site|WTAP_uc003qsk.3_Splice_Site|WTAP_uc003qsn.3_Splice_Site		NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	2	215	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	SNP	ENST00000358372.4	37	c.-7_splice	CCDS5266.1																																																																																				0.318	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron
OR2A14	135941	broad.mit.edu	37	7	143826382	143826382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr7:143826382C>A	ENST00000408899.2	+	1	232	c.177C>A	c.(175-177)taC>taA	p.Y59*		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACCCATGTACTTCTTCCTCT	0.478																																						uc011kua.2																			0		p.M58I(1)		large_intestine(4)|lung(17)|skin(1)	22						c.(175-177)taC>taA		Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.							224.0	223.0	224.0					7																	143826382		2133	4275	6408	SO:0001587	stop_gained	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826382C>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.177C>A	7.37:g.143826382C>A	ENSP00000386137:p.Tyr59*						p.Y59*	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			0	177	+	Melanoma(164;0.0783)		59					Q6IF41|Q8NGT8	Nonsense_Mutation	SNP	ENST00000408899.2	37	c.177C>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390278	0.82902	.	.	ENSG00000221938	ENST00000408899	.	.	.	4.18	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3091	8.7322	0.34505	0.0:0.8075:0.0:0.1925	.	.	.	.	X	59	.	ENSP00000386137:Y59X	Y	+	3	2	OR2A14	143457315	0.695000	0.27747	1.000000	0.80357	0.911000	0.54048	-0.074000	0.11450	0.506000	0.28125	0.561000	0.74099	TAC		0.478	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:27516827C>T	ENST00000301904.3	+	5	1160	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_ENST00000337221.4_Silent_p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	380					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557																																						uc003xga.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1138-1140)gaC>gaT		Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.							150.0	113.0	126.0					8																	27516827		2203	4300	6503	SO:0001819	synonymous_variant	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516827C>T	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1140C>T	8.37:g.27516827C>T						SCARA3_uc003xgb.1_Silent_p.D380D	p.D380D	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	4	1281	+		Ovarian(32;2.61e-05)	380					Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	c.1140C>T	CCDS34871.1																																																																																				0.557	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
KCNU1	157855	broad.mit.edu	37	8	36663813	36663813	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:36663813G>A	ENST00000399881.3	+	5	532	c.495G>A	c.(493-495)aaG>aaA	p.K165K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	165					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGATCAAGTTCTGGCTGG	0.358																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(493-495)aaG>aaA		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							97.0	94.0	95.0					8																	36663813		1851	4101	5952	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36663813G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.495G>A	8.37:g.36663813G>A						KCNU1_uc003xjw.2_Non-coding_Transcript	p.K165K	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	4	582	+			165						Silent	SNP	ENST00000399881.3	37	c.495G>A	CCDS55220.1																																																																																				0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ANGPT1	284	broad.mit.edu	37	8	108334165	108334165	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:108334165T>C	ENST00000520734.1	-	3	452	c.167A>G	c.(166-168)gAc>gGc	p.D56G	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.D56G			Q15389	ANGP1_HUMAN	angiopoietin 1	256					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTGGACTGTGTCCATCAGCTC	0.388																																						uc003ymn.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(766-768)gAc>gGc		Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.							184.0	169.0	174.0					8																	108334165		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334165T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.167A>G	8.37:g.108334165T>C	ENSP00000430750:p.Asp56Gly					ANGPT1_uc011lhv.2_Missense_Mutation_p.D56G|ANGPT1_uc003ymo.3_Missense_Mutation_p.D256G|ANGPT1_uc003ymp.4_Missense_Mutation_p.D56G	p.D256G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		3	1235	-	Breast(1;5.06e-08)		256					Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.767A>G		.	.	.	.	.	.	.	.	.	.	T	18.56	3.651277	0.67472	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.53857	0.94;0.94;0.6;0.6	5.36	5.36	0.76844	.	0.092974	0.64402	D	0.000001	T	0.51346	0.1669	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.41420	0.469;0.749;0.749	B;B;B	0.38880	0.205;0.284;0.284	T	0.53795	-0.8388	10	0.37606	T	0.19	.	15.3547	0.74418	0.0:0.0:0.0:1.0	.	56;256;256	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	G	256;256;68;56;56	ENSP00000428340:D256G;ENSP00000297450:D256G;ENSP00000430750:D56G;ENSP00000429349:D56G	ENSP00000297450:D256G	D	-	2	0	ANGPT1	108403341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.376000	0.79658	2.027000	0.59764	0.533000	0.62120	GAC		0.388	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	
TESK1	7016	broad.mit.edu	37	9	35606965	35606965	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr9:35606965C>T	ENST00000336395.5	+	4	772	c.522C>T	c.(520-522)cgC>cgT	p.R174R	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATTTCACCGCGACCTCACAT	0.567																																						uc003zxa.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(520-522)cgC>cgT		Homo sapiens testis-specific kinase 1 (TESK1), mRNA.							31.0	27.0	28.0					9																	35606965		2203	4300	6503	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35606965C>T	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.522C>T	9.37:g.35606965C>T						TESK1_uc010mks.3_Missense_Mutation_p.A42V|MIR4667_uc022bgk.1_5'Flank	p.R174R	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	858	+			174			Protein kinase.		Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.522C>T	CCDS6580.1																																																																																				0.567	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
TRPM3	80036	broad.mit.edu	37	9	73230918	73230918	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr9:73230918A>T	ENST00000377111.2	-	17	2639	c.2396T>A	c.(2395-2397)aTg>aAg	p.M799K	TRPM3_ENST00000377106.1_Missense_Mutation_p.M671K|TRPM3_ENST00000423814.3_Missense_Mutation_p.M826K|TRPM3_ENST00000360823.2_Missense_Mutation_p.M661K|TRPM3_ENST00000396280.5_Missense_Mutation_p.M648K|TRPM3_ENST00000377105.1_Missense_Mutation_p.M658K|TRPM3_ENST00000408909.2_Missense_Mutation_p.M658K|TRPM3_ENST00000377110.3_Missense_Mutation_p.M799K|TRPM3_ENST00000357533.2_Missense_Mutation_p.M803K|TRPM3_ENST00000358082.3_Missense_Mutation_p.M661K|TRPM3_ENST00000396285.1_Missense_Mutation_p.M646K|TRPM3_ENST00000396292.4_Missense_Mutation_p.M671K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	824					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCCTGAGACATATAGGGCAT	0.418																																						uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2395-2397)aTg>aAg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							150.0	135.0	140.0					9																	73230918		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73230918A>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2396T>A	9.37:g.73230918A>T	ENSP00000366315:p.Met799Lys					TRPM3_uc004ahu.3_Missense_Mutation_p.M629K|TRPM3_uc004ahv.3_Missense_Mutation_p.M601K|TRPM3_uc004ahw.3_Missense_Mutation_p.M671K|TRPM3_uc004ahx.3_Missense_Mutation_p.M658K|TRPM3_uc004ahy.3_Missense_Mutation_p.M661K|TRPM3_uc004ahz.3_Missense_Mutation_p.M648K|TRPM3_uc004aia.3_Missense_Mutation_p.M646K|TRPM3_uc004aib.3_Missense_Mutation_p.M636K|TRPM3_uc004aic.3_Missense_Mutation_p.M799K	p.M799K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			16	2640	-			824					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2396T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.77|15.77	2.932454|2.932454	0.52866|0.52866	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.56103|.	0.48;0.62;0.58;0.58;0.54;0.62;0.54;0.58;0.58;0.58;0.62|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.042957|.	0.85682|.	D|.	0.000000|.	T|.	0.57548|.	0.2061|.	L|L	0.34521|0.34521	1.04|1.04	0.51482|0.51482	D|D	0.99992|0.99992	B;B;B;B;B;B;B;B|.	0.26120|.	0.008;0.142;0.038;0.023;0.023;0.067;0.076;0.01|.	B;B;B;B;B;B;B;B|.	0.29077|.	0.062;0.091;0.033;0.045;0.028;0.02;0.098;0.017|.	T|.	0.53968|.	-0.8363|.	10|.	0.35671|0.30078	T|T	0.21|0.28	-29.7134|-29.7134	15.8422|15.8422	0.78857|0.78857	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	799;799;789;803;661;658;771;646|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|X	799;799;671;661;658;803;658;646;671;661;826|647	ENSP00000366315:M799K;ENSP00000366314:M799K;ENSP00000366310:M671K;ENSP00000354066:M661K;ENSP00000366309:M658K;ENSP00000350140:M803K;ENSP00000386127:M658K;ENSP00000379581:M646K;ENSP00000379587:M671K;ENSP00000350791:M661K;ENSP00000389542:M826K|.	ENSP00000350140:M803K|ENSP00000379576:Y647X	M|Y	-|-	2|3	0|2	TRPM3|TRPM3	72420738|72420738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.585000|4.585000	0.60977|0.60977	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.418	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
HSD17B10	3028	broad.mit.edu	37	X	53459205	53459205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chrX:53459205C>T	ENST00000168216.6	-	3	374	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	HSD17B10_ENST00000375298.4_Missense_Mutation_p.R116Q|HSD17B10_ENST00000375304.5_Missense_Mutation_p.R116Q|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	116					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						ATCAAGAACTCGCTGGAAGTC	0.507																																						uc004dsl.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						c.(346-348)cGa>cAa		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						94.0	74.0	81.0					X																	53459205		2203	4300	6503	SO:0001583	missense	3028				branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity	g.chrX:53459205C>T	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.347G>A	X.37:g.53459205C>T	ENSP00000168216:p.Arg116Gln					HSD17B10_uc004dsm.1_Missense_Mutation_p.R116Q	p.R116Q	NM_004493	NP_004484	Q99714	HCD2_HUMAN			2	378	-			116					Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	ENST00000168216.6	37	c.347G>A	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639315	0.47153	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	D;D;D	0.88201	-2.35;-2.35;-2.35	5.81	3.03	0.35002	NAD(P)-binding domain (1);	0.222920	0.44097	N	0.000497	T	0.72787	0.3504	N	0.11673	0.155	0.58432	D	0.999999	P;P	0.50617	0.85;0.937	B;B	0.34138	0.076;0.176	T	0.72097	-0.4393	10	0.51188	T	0.08	.	9.2234	0.37390	0.0:0.6896:0.0:0.3104	.	116;116	Q99714-2;Q99714	.;HCD2_HUMAN	Q	116	ENSP00000168216:R116Q;ENSP00000364453:R116Q;ENSP00000364447:R116Q	ENSP00000168216:R116Q	R	-	2	0	HSD17B10	53475930	0.849000	0.29639	1.000000	0.80357	0.940000	0.58332	1.332000	0.33805	0.555000	0.29079	0.600000	0.82982	CGA		0.507	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493	
ATRX	546	broad.mit.edu	37	X	76944376	76944376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chrX:76944376G>A	ENST00000373344.5	-	7	743	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q139*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	177	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TGATTGACCTGTTGTCCACAA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				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.(529-531)Cag>Tag		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						158.0	145.0	150.0					X																	76944376		2203	4296	6499	SO:0001587	stop_gained	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:76944376G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.529C>T	X.37:g.76944376G>A	ENSP00000362441:p.Gln177*					ATRX_uc004ecq.4_Nonsense_Mutation_p.Q139*|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q138*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q177*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q122*	p.Q177*	NM_000489	NP_000480	P46100	ATRX_HUMAN			6	761	-			177			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.529C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.744546	0.98465	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.5838	18.4267	0.90611	0.0:0.0:1.0:0.0	.	.	.	.	X	177;139;133	.	ENSP00000362441:Q177X	Q	-	1	0	ATRX	76831032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.292000	0.77174	0.594000	0.82650	CAG		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
