#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
FBXO44	93611	broad.mit.edu	37	1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	ENST00000251547.5	+	2	201	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO44_ENST00000376768.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376760.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376762.4_Missense_Mutation_p.L40P|FBXO44_ENST00000376770.1_Missense_Mutation_p.L40P|FBXO2_ENST00000475961.1_5'Flank|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Missense_Mutation_p.L40P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	40	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632																																						uc001asm.2																			0				ovary(1)	1						c.(118-120)CTC>CCC		F-box protein 44 isoform 1							63.0	68.0	66.0					1																	11716011		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716011T>C	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.119T>C	1.37:g.11716011T>C	ENSP00000251547:p.Leu40Pro					FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc001asl.2_Missense_Mutation_p.L40P|FBXO44_uc001asn.2_Missense_Mutation_p.L40P|FBXO44_uc010oar.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.1_5'UTR	p.L40P	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	245	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	40			F-box.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.119T>C	CCDS132.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577675	0.86645	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.45	5.45	0.79879	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.290724	0.32736	N	0.005708	T	0.77758	0.4178	H	0.95151	3.63	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.992	D	0.84873	0.0826	10	0.87932	D	0	-18.6926	14.6723	0.68953	0.0:0.0:0.0:1.0	.	40;40;40	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	P	40	ENSP00000251546:L40P;ENSP00000389820:L40P;ENSP00000365961:L40P;ENSP00000365959:L40P;ENSP00000251547:L40P;ENSP00000365953:L40P;ENSP00000365951:L40P	ENSP00000251546:L40P	L	+	2	0	FBXO44	11638598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.749000	0.62155	2.065000	0.61736	0.334000	0.21626	CTC		0.632	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412	
NFIA	4774	broad.mit.edu	37	1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	ENST00000403491.3	+	8	1596	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	NFIA_ENST00000371189.4_Missense_Mutation_p.P416L|NFIA_ENST00000371185.2_Missense_Mutation_p.P349L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.P328L|NFIA_ENST00000407417.3_Missense_Mutation_p.P363L|NFIA_ENST00000371191.1_Missense_Mutation_p.P394L|NFIA_ENST00000357977.5_Missense_Mutation_p.P19L|NFIA_ENST00000371184.2_Missense_Mutation_p.P242L|NFIA_ENST00000371187.3_Missense_Mutation_p.P371L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	371					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493																																						uc001czw.2																			0				pancreas(1)|skin(1)	2						c.(1111-1113)CCG>CTG		nuclear factor I/A isoform 1							188.0	169.0	175.0					1																	61869812		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61869812C>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1112C>T	1.37:g.61869812C>T	ENSP00000384523:p.Pro371Leu					NFIA_uc001czy.2_Missense_Mutation_p.P363L|NFIA_uc010oos.1_Missense_Mutation_p.P416L|NFIA_uc001czv.2_Missense_Mutation_p.P371L|NFIA_uc001czx.2_Missense_Mutation_p.P19L|NFIA_uc009wae.2_5'Flank	p.P371L	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			8	1596	+			371					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1112C>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190224	0.78789	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.62	5.62	0.85841	.	0.051492	0.85682	D	0.000000	T	0.64746	0.2626	M	0.82716	2.605	0.80722	D	1	D;B;B;B;B	0.61080	0.989;0.16;0.097;0.097;0.221	P;B;B;B;B	0.50934	0.654;0.018;0.011;0.011;0.026	T	0.69347	-0.5169	10	0.56958	D	0.05	-12.5483	20.0274	0.97527	0.0:1.0:0.0:0.0	.	416;394;349;371;371	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	L	394;363;416;371;371;349;242;328	ENSP00000360233:P394L;ENSP00000384680:P363L;ENSP00000360231:P416L;ENSP00000384523:P371L;ENSP00000360227:P349L;ENSP00000360226:P242L	ENSP00000360226:P242L	P	+	2	0	NFIA	61642400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.798000	0.96311	0.557000	0.71058	CCG		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
LRRC8C	84230	broad.mit.edu	37	1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	ENST00000370454.4	+	3	447	c.192C>A	c.(190-192)aaC>aaA	p.N64K	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	64					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433																																						uc001dnl.3																			0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(190-192)AAC>AAA		leucine rich repeat containing 8 family, member							92.0	89.0	90.0					1																	90178321		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178321C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.192C>A	1.37:g.90178321C>A	ENSP00000359483:p.Asn64Lys						p.N64K	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	434	+		all_lung(203;0.126)	64					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.192C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624648	0.66901	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.78	4.87	0.63330	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.369273	0.34700	N	0.003746	T	0.08670	0.0215	N	0.14661	0.345	0.43133	D	0.994872	B	0.14012	0.009	B	0.22152	0.038	T	0.06570	-1.0819	10	0.51188	T	0.08	.	14.7584	0.69588	0.0:0.9308:0.0:0.0692	.	64	Q8TDW0	LRC8C_HUMAN	K	64	ENSP00000359483:N64K	ENSP00000359483:N64K	N	+	3	2	LRRC8C	89950909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.205000	0.32308	1.448000	0.47680	0.655000	0.94253	AAC		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
FLG	2312	broad.mit.edu	37	1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	ENST00000368799.1	-	3	298	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	88					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(262-264)TCT>TAT		filaggrin							135.0	131.0	132.0					1																	152287099		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287099G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.263C>A	1.37:g.152287099G>T	ENSP00000357789:p.Ser88Tyr					uc001ezv.2_Splice_Site	p.S88Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		88					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.263C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336865	0.24253	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.09	-0.609	0.11608	EF-hand-like domain (1);	.	.	.	.	T	0.02455	0.0075	L	0.40543	1.245	0.09310	N	1	B	0.34290	0.447	B	0.32465	0.146	T	0.42344	-0.9457	9	0.07990	T	0.79	-0.2108	7.6961	0.28596	0.0808:0.0:0.341:0.5782	.	88	P20930	FILA_HUMAN	Y	88	ENSP00000357789:S88Y	ENSP00000357789:S88Y	S	-	2	0	FLG	150553723	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.299000	0.19138	0.024000	0.15214	0.585000	0.79938	TCT		0.358	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PBXIP1	57326	broad.mit.edu	37	1	154918742	154918742	+	Silent	SNP	T	T	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	ENST00000368463.3	-	10	1479	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_Silent_p.R315R|PBXIP1_ENST00000539880.1_Silent_p.R297R|PBXIP1_ENST00000368465.1_Silent_p.R441R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	470					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567																																						uc001ffr.2																			0				large_intestine(1)	1						c.(1408-1410)AGG>CGG		pre-B-cell leukemia homeobox interacting protein							153.0	169.0	163.0					1																	154918742		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918742T>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1408A>C	1.37:g.154918742T>G						PBXIP1_uc001ffs.2_Silent_p.R441R|PBXIP1_uc010pep.1_Silent_p.R315R	p.R470R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1467	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		470					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1408A>C	CCDS1074.1																																																																																				0.567	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	ENST00000368147.4	-	29	4183	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1335G(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488																																						uc001fst.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4003-4005)CGT>TGT		spectrin, alpha, erythrocytic 1							62.0	61.0	61.0					1																	158615169		1907	4141	6048	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615169G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4003C>T	1.37:g.158615169G>A	ENSP00000357129:p.Arg1335Cys						p.R1335C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4202	-	all_hematologic(112;0.0378)		1335			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4003C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973803	0.34848	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.06	0.976	0.19727	.	.	.	.	.	T	0.45736	0.1357	M	0.67700	2.07	0.28646	N	0.906934	D	0.89917	1.0	D	0.71184	0.972	T	0.21999	-1.0229	9	0.87932	D	0	.	5.1566	0.15038	0.3066:0.0:0.5608:0.1325	.	1335	P02549	SPTA1_HUMAN	C	1335	ENSP00000357130:R1335C;ENSP00000357129:R1335C	ENSP00000357129:R1335C	R	-	1	0	SPTA1	156881793	0.999000	0.42202	0.000000	0.03702	0.087000	0.18053	3.236000	0.51336	0.303000	0.22785	-0.142000	0.14014	CGT		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
PEX19	5824	broad.mit.edu	37	1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	ENST00000368072.5	-	6	635	c.614G>A	c.(613-615)aGt>aAt	p.S205N	DCAF8_ENST00000608310.1_Missense_Mutation_p.S58N|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.S58N|PEX19_ENST00000440949.3_Missense_Mutation_p.S115N	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	205					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCCGATGACTCTGCAACCA	0.418																																						uc010pjc.1																			0				skin(2)	2						c.(172-174)AGT>AAT		DDB1 and CUL4 associated factor 8							137.0	136.0	136.0					1																	160250017		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160250017C>T	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.614G>A	1.37:g.160250017C>T	ENSP00000357051:p.Ser205Asn					PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.S205N|PEX19_uc001fvt.2_Missense_Mutation_p.S115N	p.S58N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	445	-			142					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.173G>A	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628239	0.46944	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63096	-0.02;-0.02	5.66	2.63	0.31362	.	0.390842	0.30134	N	0.010339	T	0.17831	0.0428	N	0.11560	0.145	0.32818	D	0.502398	B;B	0.30114	0.226;0.269	B;B	0.28139	0.086;0.055	T	0.03374	-1.1043	10	0.32370	T	0.25	3.4977	5.0365	0.14438	0.1332:0.4998:0.2889:0.0781	.	58;205	G3V3G9;P40855	.;PEX19_HUMAN	N	58;58;75;205;185;115;185	ENSP00000451989:S58N;ENSP00000451235:S58N	ENSP00000357051:S205N	S	-	2	0	RP11-574F21.3;PEX19;DCAF8	158516641	0.944000	0.32072	0.962000	0.40283	0.995000	0.86356	0.933000	0.28897	0.750000	0.32877	0.563000	0.77884	AGT		0.418	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857	
PAPPA2	60676	broad.mit.edu	37	1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	ENST00000367662.3	+	3	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D345N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	345					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCTGCACCGACCGCGTGAA	0.592																																						uc001gkz.2																			0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1033-1035)GAC>AAC		pappalysin 2 isoform 1							58.0	60.0	60.0					1																	176563773		2091	4228	6319	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563773G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1033G>A	1.37:g.176563773G>A	ENSP00000356634:p.Asp345Asn					PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.2_RNA	p.D345N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2197	+			345					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1033G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840763	0.91197	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097857	0.64402	D	0.000002	D	0.85243	0.5652	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86028	0.1511	10	0.66056	D	0.02	-26.7584	18.8948	0.92419	0.0:0.0:1.0:0.0	.	345;345	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	345	ENSP00000356634:D345N;ENSP00000356633:D345N	ENSP00000356633:D345N	D	+	1	0	PAPPA2	174830396	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.689000	0.98673	2.555000	0.86185	0.650000	0.86243	GAC		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ABL2	27	broad.mit.edu	37	1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	ENST00000502732.1	-	5	961	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_ENST00000392043.3_Missense_Mutation_p.D232G|ABL2_ENST00000511413.1_Missense_Mutation_p.D253G|ABL2_ENST00000344730.3_Missense_Mutation_p.D238G|ABL2_ENST00000504405.1_Missense_Mutation_p.D217G|ABL2_ENST00000408940.3_Missense_Mutation_p.D217G|ABL2_ENST00000367623.4_Missense_Mutation_p.D232G|ABL2_ENST00000507173.1_Missense_Mutation_p.D232G|ABL2_ENST00000512653.1_Missense_Mutation_p.D238G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	253	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(757-759)GAT>GGT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85.0	74.0	78.0					1																	179090932		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090932T>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.758A>G	1.37:g.179090932T>C	ENSP00000427562:p.Asp253Gly					ABL2_uc010pnf.1_Missense_Mutation_p.D253G|ABL2_uc010png.1_Missense_Mutation_p.D232G|ABL2_uc010pnh.1_Missense_Mutation_p.D232G|ABL2_uc009wxe.2_Missense_Mutation_p.D232G|ABL2_uc001gmg.3_Missense_Mutation_p.D238G|ABL2_uc001gmi.3_Missense_Mutation_p.D238G|ABL2_uc001gmh.3_Missense_Mutation_p.D217G|ABL2_uc010pne.1_Missense_Mutation_p.D217G|ABL2_uc009wxf.1_Missense_Mutation_p.D238G|ABL2_uc001gmk.2_Missense_Mutation_p.D217G	p.D253G	NM_007314	NP_009298	P42684	ABL2_HUMAN			5	1045	-			253			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.758A>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620043	0.87460	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.2	5.2	0.72013	SH2 motif (3);	0.000000	0.53938	D	0.000049	T	0.51329	0.1668	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;P;D;P;D;P;D	0.89917	0.995;0.958;0.958;0.958;0.958;0.796;0.958;0.93;1.0;0.93;0.958	D;P;P;P;P;P;P;P;D;P;P	0.91635	0.994;0.854;0.897;0.854;0.854;0.502;0.897;0.791;0.999;0.791;0.854	T	0.56269	-0.8007	10	0.87932	D	0	.	14.2342	0.65913	0.0:0.0:0.0:1.0	.	232;232;253;217;217;232;217;253;238;217;238	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	G	253;217;238;238;217;232;232;253;232	ENSP00000427562:D253G;ENSP00000386152:D217G;ENSP00000339209:D238G;ENSP00000423578:D238G;ENSP00000426831:D217G;ENSP00000356595:D232G;ENSP00000423413:D232G;ENSP00000424697:D253G;ENSP00000375897:D232G	ENSP00000339209:D238G	D	-	2	0	ABL2	177357555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	1.958000	0.56883	0.533000	0.62120	GAT		0.498	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
IL10	3586	broad.mit.edu	37	1	206942020	206942020	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	ENST00000423557.1	-	5	556	c.498C>T	c.(496-498)aaC>aaT	p.N166N	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	166					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413																																						uc001hen.1																			0					0						c.(496-498)AAC>AAT		interleukin 10 precursor							146.0	125.0	132.0					1																	206942020		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206942020G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.498C>T	1.37:g.206942020G>A							p.N166N	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	557	-	Breast(84;0.183)		166						Silent	SNP	ENST00000423557.1	37	c.498C>T	CCDS1467.1																																																																																				0.413	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
CD46	4179	broad.mit.edu	37	1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	ENST00000358170.2	+	3	532	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_ENST00000367042.1_Missense_Mutation_p.I126V|CD46_ENST00000480003.1_Missense_Mutation_p.I126V|CD46_ENST00000361067.1_Missense_Mutation_p.I126V|CD46_ENST00000367041.1_Missense_Mutation_p.I126V|CD46_ENST00000441839.2_Missense_Mutation_p.I126V|CD46_ENST00000360212.2_Missense_Mutation_p.I126V|CD46_ENST00000322918.5_Missense_Mutation_p.I126V|CD46_ENST00000367047.1_Missense_Mutation_p.I63V|CD46_ENST00000322875.4_Missense_Mutation_p.I126V|CD46_ENST00000354848.1_Missense_Mutation_p.I126V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Missense_Mutation_p.I126V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	126	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363																																						uc001hgc.2																			0				large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(376-378)ATT>GTT		CD46 antigen, complement regulatory protein							48.0	46.0	47.0					1																	207930974		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930974A>G	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.376A>G	1.37:g.207930974A>G	ENSP00000350893:p.Ile126Val					CD46_uc001hgd.2_Missense_Mutation_p.I126V|CD46_uc001hge.2_Missense_Mutation_p.I126V|CD46_uc001hgf.2_Missense_Mutation_p.I126V|CD46_uc001hgg.2_Missense_Mutation_p.I126V|CD46_uc001hgh.2_Missense_Mutation_p.I126V|CD46_uc001hgi.2_Missense_Mutation_p.I126V|CD46_uc001hgj.2_Missense_Mutation_p.I126V|CD46_uc001hgk.2_Missense_Mutation_p.I126V|CD46_uc001hgl.2_Missense_Mutation_p.I126V|CD46_uc001hgm.2_Missense_Mutation_p.I126V|CD46_uc001hgn.2_Missense_Mutation_p.I126V|CD46_uc001hgo.2_Missense_Mutation_p.I126V|CD46_uc001hgp.2_Missense_Mutation_p.I126V	p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN			3	532	+			126			Extracellular (Potential).|Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.376A>G	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.186464	0.01620	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.07	-8.14	0.01069	Complement control module (2);Sushi/SCR/CCP (3);	3.049950	0.01216	N	0.007967	T	0.45296	0.1335	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;P;B;B;B;B;B;P;P;P	0.40107	0.013;0.003;0.022;0.013;0.367;0.654;0.013;0.022;0.013;0.318;0.013;0.654;0.598;0.703	B;B;B;B;P;P;B;B;B;B;B;P;P;P	0.57720	0.014;0.001;0.017;0.014;0.549;0.733;0.023;0.017;0.014;0.09;0.014;0.714;0.643;0.826	T	0.51020	-0.8758	10	0.02654	T	1	.	5.4734	0.16682	0.2913:0.0:0.1474:0.5614	.	126;126;126;126;126;126;126;126;126;126;126;126;126;126	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	126;126;126;126;126;126;126;63;126;126;126;126	ENSP00000350893:I126V;ENSP00000346912:I126V;ENSP00000314664:I126V;ENSP00000356009:I126V;ENSP00000356008:I126V;ENSP00000350346:I126V;ENSP00000313875:I126V;ENSP00000356014:I63V;ENSP00000413543:I126V;ENSP00000354358:I126V;ENSP00000353342:I126V;ENSP00000418471:I126V	ENSP00000313875:I126V	I	+	1	0	CD46	205997597	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.598000	0.00419	-1.689000	0.01434	0.402000	0.26972	ATT		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
CD46	4179	broad.mit.edu	37	1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T	rs368070719		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	ENST00000358170.2	+	5	709	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_ENST00000367042.1_Missense_Mutation_p.D185Y|CD46_ENST00000480003.1_Missense_Mutation_p.D185Y|CD46_ENST00000361067.1_Missense_Mutation_p.D185Y|CD46_ENST00000367041.1_Missense_Mutation_p.D185Y|CD46_ENST00000441839.2_Missense_Mutation_p.D185Y|CD46_ENST00000360212.2_Missense_Mutation_p.D185Y|CD46_ENST00000322918.5_Missense_Mutation_p.D185Y|CD46_ENST00000367047.1_Missense_Mutation_p.D122Y|CD46_ENST00000322875.4_Missense_Mutation_p.D185Y|CD46_ENST00000354848.1_Missense_Mutation_p.D185Y|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Missense_Mutation_p.D185Y	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	185	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373																																						uc001hgc.2																			0				large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(553-555)GAT>TAT		CD46 antigen, complement regulatory protein							137.0	118.0	125.0					1																	207934671		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207934671G>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.553G>T	1.37:g.207934671G>T	ENSP00000350893:p.Asp185Tyr					CD46_uc001hgd.2_Missense_Mutation_p.D185Y|CD46_uc001hge.2_Missense_Mutation_p.D185Y|CD46_uc001hgf.2_Missense_Mutation_p.D185Y|CD46_uc001hgg.2_Missense_Mutation_p.D185Y|CD46_uc001hgh.2_Missense_Mutation_p.D185Y|CD46_uc001hgi.2_Missense_Mutation_p.D185Y|CD46_uc001hgj.2_Missense_Mutation_p.D185Y|CD46_uc001hgk.2_Missense_Mutation_p.D185Y|CD46_uc001hgl.2_Missense_Mutation_p.D185Y|CD46_uc001hgm.2_Missense_Mutation_p.D185Y|CD46_uc001hgn.2_Missense_Mutation_p.D185Y|CD46_uc001hgo.2_Missense_Mutation_p.D185Y|CD46_uc001hgp.2_Missense_Mutation_p.D185Y	p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN			5	709	+			185			Extracellular (Potential).|Sushi 3.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.553G>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725572	0.48833	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.440827	0.19163	N	0.121131	T	0.81049	0.4742	M	0.78344	2.41	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.985;0.996;0.996;1.0;1.0;0.996;0.998;0.996;0.999;0.996;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.959;0.847;0.964;0.959;0.998;0.999;0.959;0.976;0.939;0.963;0.959;0.999;0.999;0.999	T	0.72453	-0.4289	10	0.72032	D	0.01	.	13.1862	0.59682	0.0:0.0:1.0:0.0	.	185;185;185;185;185;185;185;185;185;185;185;185;185;185	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	Y	185;185;185;185;185;185;185;122;185;185;185;185	ENSP00000350893:D185Y;ENSP00000346912:D185Y;ENSP00000314664:D185Y;ENSP00000356009:D185Y;ENSP00000356008:D185Y;ENSP00000350346:D185Y;ENSP00000313875:D185Y;ENSP00000356014:D122Y;ENSP00000413543:D185Y;ENSP00000354358:D185Y;ENSP00000353342:D185Y;ENSP00000418471:D185Y	ENSP00000313875:D185Y	D	+	1	0	CD46	206001294	0.226000	0.23696	0.024000	0.17045	0.033000	0.12548	3.053000	0.49901	2.562000	0.86427	0.585000	0.79938	GAT		0.373	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
SVIL	6840	broad.mit.edu	37	10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	ENST00000355867.4	-	24	5193	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.F1481L|SVIL_ENST00000535393.1_Missense_Mutation_p.F395L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1055L|SVIL_ENST00000538146.1_Missense_Mutation_p.F273L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1481	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517																																						uc001iut.1																			0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(4441-4443)TTC>CTC		supervillin isoform 2							66.0	61.0	63.0					10																	29776136		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776136A>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4441T>C	10.37:g.29776136A>G	ENSP00000348128:p.Phe1481Leu					LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	p.F1481L	NM_021738	NP_068506	O95425	SVIL_HUMAN			24	5194	-		Breast(68;0.103)	1481			Gelsolin-like 1.|Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4441T>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	34	5.403338	0.96051	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.83118	2.625	0.80722	D	1	P;P;P;P	0.45634	0.846;0.739;0.863;0.771	P;B;P;P	0.54026	0.452;0.387;0.729;0.74	T	0.59273	-0.7485	10	0.62326	D	0.03	-23.002	13.9553	0.64144	1.0:0.0:0.0:0.0	.	395;273;1055;1481	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	1055;1481;1481;395;435;273	ENSP00000364549:F1055L;ENSP00000364547:F1481L;ENSP00000348128:F1481L;ENSP00000445472:F395L;ENSP00000440343:F273L	ENSP00000348128:F1481L	F	-	1	0	SVIL	29816142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.005000	0.93587	1.877000	0.54381	0.397000	0.26171	TTC		0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
C10orf71	118461	broad.mit.edu	37	10	50532018	50532018	+	Silent	SNP	C	C	T	rs374214345		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	ENST00000374144.3	+	3	1716	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_ENST00000323868.4_Silent_p.N476N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572																																						uc010qgp.1																			0					0						c.(1426-1428)AAC>AAT		hypothetical protein LOC118461 isoform 2		C	,	1,4147		0,1,2073	33.0	36.0	35.0		1428,1428	-11.1	0.1	10		35	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,2,6288	TT,TC,CC		0.0119,0.0241,0.0159	,	476/1436,476/720	50532018	2,12578	2074	4216	6290	SO:0001819	synonymous_variant	118461							g.chr10:50532018C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1428C>T	10.37:g.50532018C>T							p.N476N	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1767	+			476					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1428C>T	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)CGA>TGA		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MICAL2	9645	broad.mit.edu	37	11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	ENST00000256194.4	+	11	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_ENST00000527546.1_Missense_Mutation_p.L444I|MICAL2_ENST00000537344.1_Missense_Mutation_p.L444I|MICAL2_ENST00000379612.3_Missense_Mutation_p.L444I|MICAL2_ENST00000342902.5_Missense_Mutation_p.L444I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	444	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567																																						uc001mjz.2																			0				upper_aerodigestive_tract(2)	2						c.(1330-1332)CTC>ATC		microtubule associated monoxygenase, calponin							76.0	62.0	67.0					11																	12244171		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12244171C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1330C>A	11.37:g.12244171C>A	ENSP00000256194:p.Leu444Ile					MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.2_Missense_Mutation_p.L444I|MICAL2_uc010rci.1_Missense_Mutation_p.L444I|MICAL2_uc001mkb.2_Missense_Mutation_p.L444I|MICAL2_uc001mkc.2_Missense_Mutation_p.L444I|MICAL2_uc001mkd.2_Missense_Mutation_p.L273I|MICAL2_uc010rcj.1_5'UTR	p.L444I	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	11	1618	+			444					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1330C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	6.700	0.497783	0.12762	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.98	4.98	0.66077	Calponin homology domain (1);	0.066172	0.56097	D	0.000024	T	0.30103	0.0754	N	0.03029	-0.43	0.47659	D	0.999485	B;B;B;B;B	0.14438	0.01;0.004;0.0;0.003;0.001	B;B;B;B;B	0.28991	0.097;0.045;0.01;0.014;0.01	T	0.26326	-1.0106	10	0.02654	T	1	.	11.4937	0.50396	0.2907:0.7093:0.0:0.0	.	444;444;444;444;444	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	I	444	ENSP00000441689:L444I;ENSP00000256194:L444I;ENSP00000433965:L444I;ENSP00000344894:L444I;ENSP00000368932:L444I	ENSP00000256194:L444I	L	+	1	0	MICAL2	12200747	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.387000	0.52501	2.746000	0.94184	0.655000	0.94253	CTC		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
OR5M10	390167	broad.mit.edu	37	11	56344526	56344526	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	ENST00000526812.2	-	1	737	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443																																						uc001niz.1																			0					0						c.(670-672)GCG>GCA		olfactory receptor, family 5, subfamily M,							46.0	46.0	46.0					11																	56344526		1847	4077	5924	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344526C>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.672G>A	11.37:g.56344526C>T							p.A224A	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	672	-			224			Cytoplasmic (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.672G>A	CCDS53630.1																																																																																				0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
SLC22A10	387775	broad.mit.edu	37	11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T	rs193006130	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	ENST00000332793.6	+	9	1471	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	490						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATGACCTTAACGGTATTTTTT	0.423													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19278	0.0		0.0	False		,,,				2504	0.0					uc009yor.2																			0				ovary(2)	2						c.(1468-1470)ACG>ATG		solute carrier family 22, member 10			MET/THR	13,3749		0,13,1868	169.0	153.0	158.0		1469	-5.4	0.0	11		158	0,8220		0,0,4110	yes	missense	SLC22A10	NM_001039752.3	81	0,13,5978	TT,TC,CC		0.0,0.3456,0.1085	benign	490/542	63072232	13,11969	1881	4110	5991	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072232C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1469C>T	11.37:g.63072232C>T	ENSP00000327569:p.Thr490Met					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	p.T490M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			9	1677	+			490			Helical; (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1469C>T	CCDS41661.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	4.965	0.179179	0.09443	0.003456	0.0	ENSG00000184999	ENST00000332793	T	0.72942	-0.7	2.72	-5.44	0.02624	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775582	0.10861	N	0.626120	T	0.46210	0.1381	L	0.28556	0.865	0.09310	N	1	B	0.29646	0.253	B	0.26693	0.072	T	0.29058	-1.0024	10	0.41790	T	0.15	.	0.7522	0.00992	0.2564:0.1893:0.1275:0.4268	.	490	Q63ZE4	S22AA_HUMAN	M	490	ENSP00000327569:T490M	ENSP00000327569:T490M	T	+	2	0	SLC22A10	62828808	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.190000	0.00277	-1.515000	0.01784	-0.313000	0.08912	ACG		0.423	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
GRM5	2915	broad.mit.edu	37	11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	ENST00000305447.4	-	9	3369	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_ENST00000455756.2_Missense_Mutation_p.E1042Q|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.E1042Q|GRM5_ENST00000418177.2_Missense_Mutation_p.E1074Q|GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000526448.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1074					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGTTGAGCTCGCTGATGTTG	0.667																																						uc001pcq.2																			0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(3220-3222)GAG>CAG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						15.0	18.0	17.0					11																	88242179		2191	4281	6472	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242179C>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3220G>C	11.37:g.88242179C>G	ENSP00000306138:p.Glu1074Gln					GRM5_uc009yvm.2_Missense_Mutation_p.E1042Q	p.E1074Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			9	3420	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1074			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.3220G>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101005	0.94245	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.92249	-2.84;-3.0;-3.0;-2.84	4.72	4.72	0.59763	.	0.057273	0.64402	D	0.000002	D	0.93000	0.7772	L	0.32530	0.975	0.47737	D	0.999503	D;D	0.67145	0.996;0.994	D;D	0.65874	0.939;0.934	D	0.92307	0.5854	9	.	.	.	.	17.6681	0.88209	0.0:1.0:0.0:0.0	.	1042;1074	P41594-2;P41594	.;GRM5_HUMAN	Q	1074;1042;1042;1074	ENSP00000402912:E1074Q;ENSP00000405690:E1042Q;ENSP00000305905:E1042Q;ENSP00000306138:E1074Q	.	E	-	1	0	GRM5	87881827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.875000	0.75551	2.141000	0.66446	0.563000	0.77884	GAG		0.667	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
MAML2	84441	broad.mit.edu	37	11	96075000	96075000	+	Silent	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	ENST00000524717.1	-	1	1344	c.60G>C	c.(58-60)gcG>gcC	p.A20A	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	20					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(58-60)GCG>GCC		mastermind-like 2							6.0	7.0	6.0					11																	96075000		1778	3990	5768	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:96075000C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.60G>C	11.37:g.96075000C>G			OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317		p.A20A	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			1	1345	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	20					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.60G>C	CCDS44714.1																																																																																				0.682	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
PGR	5241	broad.mit.edu	37	11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	ENST00000325455.5	-	2	3197	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.L582F	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	582					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCACAGGTAAGGACACCATAA	0.443																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(1744-1746)CTT>TTT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	104.0	89.0	94.0		1744,1252	5.4	1.0	11	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	582/934,418/770	100996783	1,13005	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100996783G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1744C>T	11.37:g.100996783G>A	ENSP00000325120:p.Leu582Phe					PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.L582F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	2	2487	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	582			NR C4-type.|Nuclear receptor.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1744C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136579	0.77662	0.0	1.16E-4	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	D;D	0.96619	-4.07;-4.07	5.4	5.4	0.78164	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.37561	1.115	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97796	1.0241	10	0.62326	D	0.03	.	19.1896	0.93660	0.0:0.0:1.0:0.0	.	582;582	Q8TDS3;P06401	.;PRGR_HUMAN	F	582	ENSP00000325120:L582F;ENSP00000263463:L582F	ENSP00000263463:L582F	L	-	1	0	PGR	100501993	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.522000	0.67092	2.519000	0.84933	0.655000	0.94253	CTT		0.443	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
ELMOD1	55531	broad.mit.edu	37	11	107501263	107501263	+	Silent	SNP	G	G	A	rs192561252		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	ENST00000265840.7	+	3	403	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_ENST00000443271.2_Silent_p.P46P|ELMOD1_ENST00000531234.1_Silent_p.P40P	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	46					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17984	0.0		0.001	False		,,,				2504	0.0					uc010rvs.1																			0					0						c.(136-138)CCG>CCA		ELMO/CED-12 domain containing 1 isoform 1		G	,	0,3708		0,0,1854	61.0	57.0	58.0		138,138	-8.4	1.0	11		58	5,8177		0,5,4086	no	coding-synonymous,coding-synonymous	ELMOD1	NM_001130037.1,NM_018712.3	,	0,5,5940	AA,AG,GG		0.0611,0.0,0.0421	,	46/327,46/335	107501263	5,11885	1854	4091	5945	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501263G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.138G>A	11.37:g.107501263G>A						ELMOD1_uc001pjm.2_Silent_p.P46P|ELMOD1_uc010rvt.1_Silent_p.P40P	p.P46P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	542	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	46					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.138G>A	CCDS44723.1																																																																																				0.398	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
C11orf65	160140	broad.mit.edu	37	11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	ENST00000529391.1	-	2	152	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.R48H			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303																																						uc001pkh.2																			0				ovary(1)	1						c.(142-144)CGT>CAT		hypothetical protein LOC160140							176.0	179.0	178.0					11																	108302504		2201	4295	6496	SO:0001583	missense	160140							g.chr11:108302504C>T	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.143G>A	11.37:g.108302504C>T	ENSP00000436400:p.Arg48His					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA	p.R48H	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	3	213	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	48					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.143G>A	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938717	0.18206	.	.	ENSG00000166323	ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.31769	1.48;1.48;1.48	5.73	0.641	0.17759	.	0.231873	0.35970	N	0.002878	T	0.23727	0.0574	L	0.45581	1.43	0.32977	D	0.523195	B	0.12630	0.006	B	0.11329	0.006	T	0.15665	-1.0429	10	0.44086	T	0.13	-2.4624	8.7371	0.34534	0.0:0.6092:0.0:0.3908	.	48	Q8NCR3	CK065_HUMAN	H	48	ENSP00000436400:R48H;ENSP00000376799:R48H;ENSP00000434500:R48H	ENSP00000376799:R48H	R	-	2	0	C11orf65	107807714	0.045000	0.20229	0.969000	0.41365	0.292000	0.27327	-1.361000	0.02597	0.093000	0.17368	-0.827000	0.03088	CGT		0.303	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587	
NTF3	4908	broad.mit.edu	37	12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	ENST00000331010.6	+	1	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_ENST00000423158.3_Missense_Mutation_p.A153V|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	140					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3																			0				pancreas(1)	1						c.(418-420)GCG>GTG		neurotrophin 3 isoform 2 preproprotein							89.0	84.0	86.0					12																	5603799		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603799C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.419C>T	12.37:g.5603799C>T	ENSP00000328738:p.Ala140Val					NTF3_uc001qnk.3_Missense_Mutation_p.A153V	p.A140V	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	502	+			140					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.419C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082061	0.55861	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.69435	-0.4;-0.4	5.52	5.52	0.82312	.	0.184965	0.47093	D	0.000259	T	0.72203	0.3431	M	0.86864	2.845	0.53005	D	0.999961	B;B	0.28208	0.203;0.203	B;B	0.17098	0.011;0.017	T	0.74303	-0.3709	10	0.72032	D	0.01	-11.2617	18.4188	0.90582	0.0:1.0:0.0:0.0	.	140;153	P20783;B7Z1T5	NTF3_HUMAN;.	V	153;140	ENSP00000397297:A153V;ENSP00000328738:A140V	ENSP00000328738:A140V	A	+	2	0	NTF3	5474060	0.976000	0.34144	0.997000	0.53966	0.961000	0.63080	4.946000	0.63576	2.610000	0.88304	0.591000	0.81541	GCG		0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1		
GNB3	2784	broad.mit.edu	37	12	6946946	6946946	+	5'Flank	SNP	T	T	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000538102.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGCAGACAACTGCGTCCTGGA	0.642																																						uc001qra.1																			0					0						c.(1762-1764)TGC>AGC		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						33.0	41.0	38.0					12																	6946946		2113	4237	6350	SO:0001631	upstream_gene_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6946946T>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946946T>A	Exception_encountered					LEPREL2_uc001qqz.1_Missense_Mutation_p.C395S|LEPREL2_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank	p.C588S	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			14	1796	+			588			Fe2OG dioxygenase.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1762T>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841253	0.91197	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.71698	-0.59;-0.59	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86694	0.1925	9	0.87932	D	0	-11.5414	14.3201	0.66479	0.0:0.0:0.0:1.0	.	588	Q8IVL6	P3H3_HUMAN	S	587;403	ENSP00000379951:C587S;ENSP00000290510:C403S	ENSP00000290510:C403S	C	+	1	0	LEPREL2	6817207	1.000000	0.71417	0.990000	0.47175	0.959000	0.62525	7.525000	0.81892	1.971000	0.57363	0.459000	0.35465	TGC		0.642	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CCDC91	55297	broad.mit.edu	37	12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	ENST00000545336.1	+	8	774	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.V119M|CCDC91_ENST00000306172.5_Missense_Mutation_p.V89M|CCDC91_ENST00000381259.1_Missense_Mutation_p.V119M|CCDC91_ENST00000539107.1_Missense_Mutation_p.V119M			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	119					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358																																						uc001riq.2																			0				central_nervous_system(1)	1						c.(355-357)GTG>ATG		GGA binding partner							95.0	99.0	98.0					12																	28459762		2202	4300	6502	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459762G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.355G>A	12.37:g.28459762G>A	ENSP00000438040:p.Val119Met					CCDC91_uc001rio.2_Missense_Mutation_p.V89M|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc001rir.2_Translation_Start_Site|CCDC91_uc009zjl.2_Translation_Start_Site	p.V119M	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			4	371	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		119					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.355G>A	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766198	0.49574	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.49;1.48;1.49;1.48;1.49	5.79	4.9	0.64082	.	0.626859	0.14866	N	0.293835	T	0.23171	0.0560	N	0.08118	0	0.22266	N	0.999243	P;B	0.47191	0.891;0.015	P;B	0.48141	0.568;0.022	T	0.07121	-1.0789	10	0.54805	T	0.06	-0.332	10.6785	0.45799	0.0879:0.0:0.9121:0.0	.	119;89	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	M	119;119;119;119;119;119;89	ENSP00000440513:V119M;ENSP00000445660:V119M;ENSP00000438040:V119M;ENSP00000442544:V119M;ENSP00000370658:V119M;ENSP00000370655:V119M;ENSP00000305075:V89M	ENSP00000305075:V89M	V	+	1	0	CCDC91	28351029	0.995000	0.38212	0.975000	0.42487	0.990000	0.78478	3.720000	0.54933	1.441000	0.47550	0.650000	0.86243	GTG		0.358	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
SP7	121340	broad.mit.edu	37	12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	ENST00000536324.2	-	3	1428	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_ENST00000537210.2_Missense_Mutation_p.G364A|SP7_ENST00000303846.3_Missense_Mutation_p.G382A	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	382					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sct.2																			0					0						c.(1144-1146)GGT>GCT		osterix							27.0	33.0	31.0					12																	53722081		2017	4164	6181	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722081C>G	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1145G>C	12.37:g.53722081C>G	ENSP00000443827:p.Gly382Ala		OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	SP7_uc001scu.2_Missense_Mutation_p.G364A|SP7_uc001scv.2_Missense_Mutation_p.G382A	p.G382A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	1252	-			382					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.1145G>C	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378029	0.11466	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210	T;T;T	0.07327	3.2;3.2;3.21	4.66	3.68	0.42216	.	0.162787	0.37577	N	0.002024	T	0.04497	0.0123	N	0.17379	0.485	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.34625	-0.9821	10	0.41790	T	0.15	.	7.6306	0.28236	0.0:0.7383:0.1693:0.0924	.	382	Q8TDD2	SP7_HUMAN	A	382;382;364	ENSP00000443827:G382A;ENSP00000302812:G382A;ENSP00000441367:G364A	ENSP00000302812:G382A	G	-	2	0	SP7	52008348	0.256000	0.24012	0.106000	0.21319	0.194000	0.23727	3.266000	0.51569	2.509000	0.84616	0.561000	0.74099	GGT		0.672	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
KSR2	283455	broad.mit.edu	37	12	117977618	117977618	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	ENST00000339824.5	-	10	2320	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	KSR2_ENST00000425217.1_Silent_p.S502S|KSR2_ENST00000302438.5_Silent_p.S228S|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	531	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627																																						uc001two.2																			0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1504-1506)TCG>TCA		kinase suppressor of ras 2							80.0	98.0	92.0					12																	117977618		2141	4233	6374	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977618C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1593G>A	12.37:g.117977618C>T							p.S502S	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			10	1561	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		531			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1506G>A																																																																																					0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
FLT1	2321	broad.mit.edu	37	13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	ENST00000282397.4	-	12	1859	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_ENST00000541932.1_Missense_Mutation_p.I536M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	536	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTGGAAGCTATGCAAATGT	0.413																																						uc001usb.3																			0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1606-1608)ATA>ATG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						131.0	120.0	123.0					13																	28971149		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28971149T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1608A>G	13.37:g.28971149T>C	ENSP00000282397:p.Ile536Met					FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.I19M	p.I536M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	12	1893	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	536			Ig-like C2-type 5.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1608A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634457	0.29068	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.36520	1.25;2.73	5.87	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.424747	0.26931	N	0.021774	T	0.20047	0.0482	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.17722	0.019;0.019;0.007	T	0.05419	-1.0886	10	0.30078	T	0.28	.	11.3656	0.49671	0.0:0.8529:0.0:0.1471	.	536;536;536	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	536	ENSP00000282397:I536M;ENSP00000437631:I536M	ENSP00000282397:I536M	I	-	3	3	FLT1	27869149	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.904000	0.39868	1.463000	0.47967	-0.242000	0.12053	ATA		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	ENST00000380152.3	+	18	8325	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2698T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G|||	0	0.0	0.0	0.0	5008	,	,		17595	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		1	Deletion - Frameshift(1)		ovary(1)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8092-8094)GCA>ACA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							102.0	100.0	101.0					13																	32937431		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937431G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8092G>A	13.37:g.32937431G>A	ENSP00000369497:p.Ala2698Thr	TCGA Ovarian(8;0.087)					p.A2698T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8319	+		Lung SC(185;0.0262)	2698					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8092G>A	CCDS9344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.016	-1.538764	0.00942	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79845	-1.31;-1.31	5.38	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.318221	0.34932	N	0.003566	T	0.41119	0.1145	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47935	-0.9078	10	0.02654	T	1	.	5.0883	0.14694	0.7144:0.0:0.1519:0.1337	.	2698	P51587	BRCA2_HUMAN	T	2698	ENSP00000369497:A2698T;ENSP00000439902:A2698T	ENSP00000369497:A2698T	A	+	1	0	BRCA2	31835431	0.000000	0.05858	0.006000	0.13384	0.360000	0.29518	-0.074000	0.11450	0.368000	0.24481	-0.373000	0.07131	GCA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Splice_Site	SNP	C	C	T	rs3092891	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.?(7)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.(1333-1335)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation
IPO5	3843	broad.mit.edu	37	13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	ENST00000490680.1	+	4	466	c.401A>T	c.(400-402)aAg>aTg	p.K134M	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000261574.5_Missense_Mutation_p.K152M			O00410	IPO5_HUMAN	importin 5	134					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383																																						uc001vnf.1																			0				ovary(1)|lung(1)|skin(1)	3						c.(400-402)AAG>ATG		importin 5							93.0	94.0	94.0					13																	98641352		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641352A>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.401A>T	13.37:g.98641352A>T	ENSP00000418393:p.Lys134Met					IPO5_uc001vne.2_Missense_Mutation_p.K152M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	p.K134M	NM_002271	NP_002262	O00410	IPO5_HUMAN			4	466	+			134					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.401A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.975581|4.975581	0.92919|0.92919	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000475420;ENST00000480641;ENST00000490680;ENST00000389591;ENST00000403772;ENST00000473582|ENST00000469360	T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;3.49;-0.38;-0.38;3.49|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.994;0.997|.	P;D|.	0.63597|.	0.885;0.916|.	T|T	0.70890|0.70890	-0.4749|-0.4749	10|5	0.59425|.	D|.	0.04|.	-2.9101|-2.9101	16.0023|16.0023	0.80306|0.80306	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	134;152|.	O00410;O00410-3|.	IPO5_HUMAN;.|.	M|C	152;134;134;74;134;107;105;115|136	ENSP00000261574:K152M;ENSP00000350219:K134M;ENSP00000420079:K134M;ENSP00000419003:K74M;ENSP00000418393:K134M;ENSP00000385938:K105M;ENSP00000420491:K115M|.	ENSP00000261574:K152M|.	K|S	+|+	2|1	0|0	IPO5|IPO5	97439353|97439353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.004000|9.004000	0.93583|0.93583	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
SLC22A17	51310	broad.mit.edu	37	14	23820969	23820969	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	ENST00000206544.8	-	2	699	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000354772.3_Silent_p.P121P|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000397267.1_Silent_p.P121P	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	121					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617																																						uc001wjl.2																			0					0						c.(361-363)CCC>CCT		solute carrier family 22, member 17 isoform a							53.0	49.0	50.0					14																	23820969		2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23820969G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.363C>T	14.37:g.23820969G>A						SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Silent_p.P121P|SLC22A17_uc010akl.1_Silent_p.P121P	p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	419	-	all_cancers(95;7.12e-06)		121					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.363C>T	CCDS9593.1																																																																																				0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
FSCB	84075	broad.mit.edu	37	14	44975096	44975096	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	ENST00000340446.4	-	1	1386	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	365	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGAATTTCAGCAGGAGGCT	0.493																																						uc001wvn.2																			0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1093-1095)GCT>GCC		fibrous sheath CABYR binding protein							85.0	99.0	95.0					14																	44975096		2200	4299	6499	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975096A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1095T>C	14.37:g.44975096A>G							p.A365A	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1404	-			365			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1095T>C	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	ENST00000304743.2	+	6	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_ENST00000238570.5_Missense_Mutation_p.R391Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R391Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	391						integral component of membrane (GO:0016021)		p.R391P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1171-1173)CGG>CAG		pecanex-like 1							80.0	83.0	82.0					14																	71444226		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444226G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1172G>A	14.37:g.71444226G>A	ENSP00000304192:p.Arg391Gln					PCNX_uc001xmn.3_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1618	+			391					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1172G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396292	0.42512	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15139	3.07;3.04;2.45	5.93	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26304	0.0642	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	0.993;0.997;1.0	P;P;D	0.69307	0.531;0.665;0.963	T	0.01648	-1.1304	10	0.15499	T	0.54	.	16.6058	0.84828	0.0:0.1299:0.8701:0.0	.	391;391;391	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Q	391	ENSP00000304192:R391Q;ENSP00000238570:R391Q;ENSP00000396617:R391Q	ENSP00000238570:R391Q	R	+	2	0	PCNX	70513979	1.000000	0.71417	0.965000	0.40720	0.120000	0.20174	7.329000	0.79170	2.816000	0.96949	0.650000	0.86243	CGG		0.498	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
ESRRB	2103	broad.mit.edu	37	14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	ENST00000509242.1	+	8	1303	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_ENST00000556177.1_Missense_Mutation_p.T402M|ESRRB_ENST00000261532.7_Missense_Mutation_p.T402M|ESRRB_ENST00000380887.2_Missense_Mutation_p.T402M|RP11-187O7.3_ENST00000554926.1_lincRNA	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	402					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627																																						uc001xsq.1																			0				ovary(1)|skin(1)	2						c.(1204-1206)ACG>ATG		estrogen-related receptor beta							14.0	16.0	15.0					14																	76964704		2162	4231	6393	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76964704C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1205C>T	14.37:g.76964704C>T	ENSP00000422488:p.Thr402Met					ESRRB_uc001xsr.2_Missense_Mutation_p.T402M|ESRRB_uc001xso.2_RNA	p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	7	1272	+			402					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1205C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470157	0.63625	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.51849	-0.8653	10	0.13470	T	0.59	.	19.5447	0.95287	0.0:1.0:0.0:0.0	.	402;407	Q5F0P7;E7EWD9	.;.	M	407;402;402;402;402	ENSP00000424992:T407M;ENSP00000422488:T402M;ENSP00000451658:T402M;ENSP00000370270:T402M;ENSP00000261532:T402M	ENSP00000261532:T402M	T	+	2	0	ESRRB	76034457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.611000	0.88343	0.561000	0.74099	ACG		0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
BCL11B	64919	broad.mit.edu	37	14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	ENST00000357195.3	-	4	2404	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_ENST00000345514.2_Missense_Mutation_p.E728K|BCL11B_ENST00000443726.2_Missense_Mutation_p.E605K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	799					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL																																	uc001yga.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(2395-2397)GAG>AAG		B-cell CLL/lymphoma 11B isoform 1							26.0	23.0	24.0					14																	99640778		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640778C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2395G>A	14.37:g.99640778C>T	ENSP00000349723:p.Glu799Lys					BCL11B_uc001ygb.2_Missense_Mutation_p.E728K	p.E799K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2662	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	799			C2H2-type 4.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2395G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718539	0.89205	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07216	3.21;3.21;3.21	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259980	0.30639	N	0.009195	T	0.28896	0.0717	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04360	-1.0957	10	0.56958	D	0.05	-15.5178	17.1335	0.86733	0.0:1.0:0.0:0.0	.	728;799	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	K	799;728;605	ENSP00000349723:E799K;ENSP00000280435:E728K;ENSP00000387419:E605K	ENSP00000280435:E728K	E	-	1	0	BCL11B	98710531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.332000	0.79203	2.118000	0.64928	0.561000	0.74099	GAG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
RMDN3	55177	broad.mit.edu	37	15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	ENST00000260385.6	-	1	1101	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	RMDN3_ENST00000338376.3_Missense_Mutation_p.A12T|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	12					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCCAGCCCGGCACGGGCACCA	0.687																																						uc001zmo.1																			0					0						c.(34-36)GCC>ACC		family with sequence similarity 82, member A2							26.0	28.0	27.0					15																	41046948		2201	4297	6498	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41046948C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.34G>A	15.37:g.41046948C>T	ENSP00000260385:p.Ala12Thr					FAM82A2_uc001zmp.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			2	178	-			12					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.34G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924096	0.52653	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.31510	1.49;1.49	5.58	0.315	0.15852	.	0.729320	0.13088	N	0.414755	T	0.16385	0.0394	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20874	-1.0262	10	0.29301	T	0.29	-3.2045	4.7725	0.13162	0.3143:0.4911:0.0:0.1947	.	12	Q96TC7	RMD3_HUMAN	T	12	ENSP00000260385:A12T;ENSP00000342493:A12T	ENSP00000260385:A12T	A	-	1	0	FAM82A2	38834240	0.844000	0.29557	0.142000	0.22268	0.887000	0.51463	0.804000	0.27098	0.282000	0.22254	0.650000	0.86243	GCC		0.687	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145	
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		14296	0.0		0.0	False		,,,				2504	0.001					uc001zna.2																			0				ovary(1)	1						c.(946-948)GCG>GTG		serine peptidase inhibitor, Kunitz type 1		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	99.0	96.0		,,947	-2.4	0.0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	5	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
TP53BP1	7158	broad.mit.edu	37	15	43748820	43748820	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	ENST00000263801.3	-	12	2223	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Silent_p.E662E|TP53BP1_ENST00000382039.3_Silent_p.E662E|TP53BP1_ENST00000382044.4_Silent_p.E662E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	657					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes																														uc001zrs.2																			0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(1969-1971)GAG>GAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							94.0	99.0	97.0					15																	43748820		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748820C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1971G>A	15.37:g.43748820C>T						TP53BP1_uc010udp.1_Silent_p.E657E|TP53BP1_uc001zrq.3_Silent_p.E662E|TP53BP1_uc001zrr.3_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	p.E657E	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2119	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	657					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1971G>A	CCDS10096.1																																																																																				0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
ADAMTS18	170692	broad.mit.edu	37	16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T	rs373069226		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	ENST00000282849.5	-	4	988	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	190					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGCTGTAGTTGTGTTCCT	0.502																																						uc002ffc.3																			0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(568-570)AAC>AAA		ADAM metallopeptidase with thrombospondin type 1							119.0	106.0	110.0					16																	77401546		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401546G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.570C>A	16.37:g.77401546G>T	ENSP00000282849:p.Asn190Lys					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.N190K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			4	989	-			190					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.570C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080999	0.94050	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.04970	3.52;3.52	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	0.048853	0.85682	D	0.000000	T	0.13586	0.0329	L	0.59436	1.845	0.58432	D	0.999998	B	0.29341	0.242	B	0.40329	0.326	T	0.04454	-1.0950	10	0.45353	T	0.12	.	16.8505	0.85992	0.0:0.0:1.0:0.0	.	190	Q8TE60	ATS18_HUMAN	K	190	ENSP00000282849:N190K;ENSP00000392540:N190K	ENSP00000282849:N190K	N	-	3	2	ADAMTS18	75959047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.446000	0.82766	0.555000	0.69702	AAC		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
OR1E2	8388	broad.mit.edu	37	17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	ENST00000248384.1	-	1	334	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	112					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522																																						uc010vre.1																			0				large_intestine(1)	1						c.(334-336)AGC>AAC		olfactory receptor, family 1, subfamily E,							98.0	81.0	86.0					17																	3336801		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336801C>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.335G>A	17.37:g.3336801C>T	ENSP00000248384:p.Ser112Asn						p.S112N	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	335	-			112			Helical; Name=3; (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.335G>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646177	0.03531	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00344	8.02	5.47	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.455052	0.24178	N	0.040838	T	0.00109	0.0003	N	0.16368	0.405	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.41822	-0.9487	10	0.02654	T	1	.	3.2868	0.06935	0.2026:0.5615:0.0:0.2359	.	112	P47887	OR1E2_HUMAN	N	112;111	ENSP00000248384:S112N	ENSP00000248384:S112N	S	-	2	0	OR1E2	3283551	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	-1.291000	0.02775	1.545000	0.49373	0.650000	0.86243	AGC		0.522	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
TRPV1	7442	broad.mit.edu	37	17	3486725	3486725	+	Splice_Site	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	ENST00000571088.1	-	9	1597		c.e9-1		TRPV1_ENST00000425167.2_Splice_Site|TRPV1_ENST00000174621.6_Splice_Site|TRPV1_ENST00000399756.4_Splice_Site|TRPV1_ENST00000576351.1_Splice_Site|SHPK_ENST00000572705.1_Splice_Site|TRPV1_ENST00000399759.3_Splice_Site|TRPV1_ENST00000310522.5_Splice_Site	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473																																					Melanoma(38;962 1762 15789)	uc010vrr.1																			0				ovary(1)	1						c.e8-1		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						58.0	54.0	55.0					17																	3486725		1940	4154	6094	SO:0001630	splice_region_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3486725C>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1384-1G>C	17.37:g.3486725C>G						TRPV1_uc010vro.1_Splice_Site_p.P473_splice|TRPV1_uc010vrp.1_Splice_Site_p.P402_splice|TRPV1_uc010vrq.1_Splice_Site_p.P460_splice|TRPV1_uc010vrs.1_Splice_Site_p.P462_splice|TRPV1_uc010vrt.1_Splice_Site_p.P462_splice|TRPV1_uc010vru.1_Splice_Site_p.P462_splice	p.P462_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	8	1911	-								A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Splice_Site	SNP	ENST00000571088.1	37	c.1384_splice	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087647	0.55968	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9437	0.89032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV1	3433474	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	6.850000	0.75420	2.567000	0.86603	0.655000	0.94253	.		0.473	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	Intron
PLXDC1	57125	broad.mit.edu	37	17	37295949	37295949	+	Silent	SNP	G	G	T	rs371702899		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	ENST00000315392.4	-	2	424	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Silent_p.T71T	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	71					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15547	0.0		0.0	False		,,,				2504	0.001					uc002hrg.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(211-213)ACC>ACA		plexin domain containing 1 precursor							56.0	50.0	52.0					17																	37295949		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37295949G>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.213C>A	17.37:g.37295949G>T						PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.T71T	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			2	425	-			71			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.213C>A	CCDS11333.1																																																																																				0.672	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	
KRT13	3860	broad.mit.edu	37	17	39661434	39661434	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	ENST00000246635.3	-	1	415	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_ENST00000336861.3_Silent_p.R123R|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.R123R	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	123	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597																																						uc002hwu.1																			0				ovary(2)|skin(2)|pancreas(1)	5						c.(367-369)CGC>CGT		keratin 13 isoform a							138.0	133.0	135.0					17																	39661434		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661434G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.369C>T	17.37:g.39661434G>A						KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc002hww.2_Silent_p.R16R|KRT13_uc010wfr.1_Silent_p.R16R|KRT13_uc010cxo.2_Silent_p.R123R|KRT13_uc002hwx.1_Silent_p.R111R	p.R123R	NM_153490	NP_705694	P13646	K1C13_HUMAN			1	432	-		Breast(137;0.000286)	123			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.369C>T	CCDS11396.1																																																																																				0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	ENST00000226067.5	+	4	1201	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_ENST00000430986.2_Missense_Mutation_p.R158H|HLF_ENST00000575345.1_Missense_Mutation_p.R158H|HLF_ENST00000573945.1_Missense_Mutation_p.R158H|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	243	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				ovary(2)	2						c.(727-729)CGC>CAC		hepatic leukemia factor							35.0	40.0	38.0					17																	53398080		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398080G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.728G>A	17.37:g.53398080G>A	ENSP00000226067:p.Arg243His					HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	p.R243H	NM_002126	NP_002117	Q16534	HLF_HUMAN			4	1253	+			243			Basic motif.		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.728G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669231	0.88348	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.72167	-0.63;-0.63	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93764	0.7069	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	191;243	B4DIQ5;Q16534	.;HLF_HUMAN	H	243;158	ENSP00000226067:R243H;ENSP00000402496:R158H	ENSP00000226067:R243H	R	+	2	0	HLF	50753079	1.000000	0.71417	0.982000	0.44146	0.252000	0.25951	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	CGC		0.547	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126	
TLK2	11011	broad.mit.edu	37	17	60679467	60679467	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	ENST00000326270.9	+	20	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_ENST00000343388.7_Silent_p.S563S|TLK2_ENST00000582809.1_Silent_p.S446S|TLK2_ENST00000542523.1_Silent_p.S563S|TLK2_ENST00000346027.5_Silent_p.S595S	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383																																						uc010ddp.2																			0				stomach(1)|kidney(1)	2						c.(1849-1851)TCG>TCA		tousled-like kinase 2 isoform A							100.0	93.0	96.0					17																	60679467		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60679467G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1851G>A	17.37:g.60679467G>A						TLK2_uc002izx.3_Silent_p.S443S|TLK2_uc002izz.3_Silent_p.S595S|TLK2_uc002jaa.3_Silent_p.S563S|TLK2_uc010wpd.1_Silent_p.S563S	p.S617S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			20	2119	+			617			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1851G>A																																																																																					0.383	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
ABCA10	10349	broad.mit.edu	37	17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	ENST00000269081.4	-	21	3371	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	821					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTAAGAGGCGTCTTCGGGAT	0.363																																						uc010dfa.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2461-2463)ACG>ATG		ATP-binding cassette, sub-family A, member 10							72.0	72.0	72.0					17																	67181653		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67181653G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2462C>T	17.37:g.67181653G>A	ENSP00000269081:p.Thr821Met					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	p.T821M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			21	3341	-	Breast(10;6.95e-12)		821					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2462C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	7.776	0.708510	0.15239	.	.	ENSG00000154263	ENST00000269081	D	0.87412	-2.25	2.92	-0.695	0.11291	.	1.266010	0.06270	U	0.695557	T	0.76807	0.4039	L	0.29908	0.895	0.09310	N	1	P;P	0.34629	0.46;0.46	B;B	0.32805	0.153;0.153	T	0.64394	-0.6418	10	0.48119	T	0.1	.	2.8343	0.05509	0.2334:0.0:0.3866:0.38	.	821;821	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	M	821	ENSP00000269081:T821M	ENSP00000269081:T821M	T	-	2	0	ABCA10	64693248	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.325000	0.02687	-0.222000	0.09958	-0.232000	0.12228	ACG		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
P4HB	5034	broad.mit.edu	37	17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	ENST00000331483.4	-	6	980	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.I209S|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	253					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0					0						c.(757-759)ATC>AGC		prolyl 4-hydroxylase, beta subunit precursor							256.0	278.0	271.0					17																	79804920		2203	4298	6501	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804920A>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.758T>G	17.37:g.79804920A>C	ENSP00000327801:p.Ile253Ser					P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	p.I253S	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		6	955	-	all_neural(118;0.0878)|Ovarian(332;0.12)		253					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.758T>G	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.031804|5.031804	0.93575|0.93575	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000439918	T|.	0.33438|.	1.41|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.047694|.	0.85682|.	D|.	0.000000|.	D|D	0.86066|0.86066	0.5844|0.5844	M|M	0.93678|0.93678	3.445|3.445	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.64506|.	0.926|.	D|D	0.89856|0.89856	0.4013|0.4013	10|5	0.87932|.	D|.	0|.	.|.	15.8807|15.8807	0.79201|0.79201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	253|.	P07237|.	PDIA1_HUMAN|.	S|K	253;196;237|39	ENSP00000327801:I253S|.	ENSP00000327801:I253S|.	I|N	-|-	2|3	0|2	P4HB|P4HB	77398209|77398209	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	9.225000|9.225000	0.95219|0.95219	2.207000|2.207000	0.71202|0.71202	0.529000|0.529000	0.55759|0.55759	ATC|AAT		0.468	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	
LAMA3	3909	broad.mit.edu	37	18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	ENST00000313654.9	+	56	7538	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2377D|LAMA3_ENST00000587184.1_Missense_Mutation_p.N768D|LAMA3_ENST00000269217.6_Missense_Mutation_p.N824D|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2433	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGTACTGAGAATATGTTTGT	0.398																																						uc002kuq.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(7297-7299)AAT>GAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	119.0	122.0					18																	21492813		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492813A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7297A>G	18.37:g.21492813A>G	ENSP00000324532:p.Asn2433Asp					LAMA3_uc002kur.2_Missense_Mutation_p.N2377D|LAMA3_uc002kus.3_Missense_Mutation_p.N824D|LAMA3_uc002kut.3_Missense_Mutation_p.N768D	p.N2433D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			56	7383	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2433			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7297A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	1.384	-0.582652	0.03827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.25;2.23;3.79	5.64	1.75	0.24633	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.05823	0.0152	N	0.02830	-0.485	0.29804	N	0.83218	B;B;B;B	0.10296	0.001;0.003;0.003;0.003	B;B;B;B	0.15870	0.007;0.009;0.014;0.01	T	0.39375	-0.9617	9	0.02654	T	1	.	9.7145	0.40265	0.4662:0.0:0.5338:0.0	.	768;824;2377;2433	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	D	2433;2377;824	ENSP00000324532:N2433D;ENSP00000382432:N2377D;ENSP00000269217:N824D	ENSP00000269217:N824D	N	+	1	0	LAMA3	19746811	0.578000	0.26717	0.904000	0.35570	0.857000	0.48899	0.570000	0.23653	0.462000	0.27095	-0.256000	0.11100	AAT		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
CATSPERD	257062	broad.mit.edu	37	19	5748191	5748191	+	Missense_Mutation	SNP	C	C	T	rs367967767		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:5748191C>T	ENST00000381624.3	+	10	890	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	277					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CGACACCGTCCGGGTGAAAAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0					uc002mda.2																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(829-831)CGG>TGG		transmembrane protein 146 precursor		C	TRP/ARG	0,3962		0,0,1981	94.0	101.0	99.0		829	-4.4	0.0	19		99	1,8289		0,1,4144	no	missense	TMEM146	NM_152784.3	101	0,1,6125	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	277/799	5748191	1,12251	1981	4145	6126	SO:0001583	missense	257062					integral to membrane		g.chr19:5748191C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.829C>T	19.37:g.5748191C>T	ENSP00000371037:p.Arg277Trp					TMEM146_uc010duj.1_5'UTR	p.R277W	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			10	890	+			277			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.829C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581963	0.46006	0.0	1.21E-4	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.25579	1.79	3.0	-4.44	0.03557	.	3.053280	0.01531	U	0.018798	T	0.32823	0.0842	L	0.43152	1.355	0.09310	N	0.999999	D	0.76494	0.999	P	0.59948	0.866	T	0.42832	-0.9428	10	0.87932	D	0	0.8992	1.97	0.03404	0.2991:0.2312:0.3599:0.1099	.	277	Q86XM0	TM146_HUMAN	W	203;277	ENSP00000371037:R277W	ENSP00000371037:R277W	R	+	1	2	TMEM146	5699191	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.347000	0.02632	-0.732000	0.04856	-0.145000	0.13849	CGG		0.542	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
CATSPERG	57828	broad.mit.edu	37	19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A	rs535055326		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	ENST00000409235.3	+	16	1989	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R585Q|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	625					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18864	0.001		0.0	False		,,,				2504	0.0					uc002oih.3																			0				ovary(1)|skin(1)	2						c.(1873-1875)CGG>CAG		cation channel, sperm-associated, gamma							38.0	32.0	34.0					19																	38851477		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38851477G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1874G>A	19.37:g.38851477G>A	ENSP00000386962:p.Arg625Gln					CATSPERG_uc002oig.3_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.3_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.2_RNA	p.R625Q	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			16	1961	+			625			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1874G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016353	0.35606	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.8	-8.7	0.00851	.	2.373100	0.01505	N	0.017655	T	0.17195	0.0413	N	0.17674	0.51	0.09310	N	1	B;B	0.20261	0.017;0.043	B;B	0.14578	0.005;0.011	T	0.09684	-1.0663	10	0.28530	T	0.3	-7.6665	8.9729	0.35917	0.6595:0.0:0.2261:0.1144	.	625;585	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	585;625;625	ENSP00000387057:R585Q;ENSP00000386962:R625Q;ENSP00000386950:R625Q	ENSP00000386962:R625Q	R	+	2	0	CATSPERG	43543317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.314000	0.00516	-1.489000	0.01844	-0.518000	0.04402	CGG		0.572	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
ZNF780A	284323	broad.mit.edu	37	19	40580618	40580618	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	ENST00000595687.2	-	6	1940	c.1731A>G	c.(1729-1731)aaA>aaG	p.K577K	ZNF780A_ENST00000594395.1_Silent_p.K578K|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.K577K|ZNF780A_ENST00000455521.1_Silent_p.K578K|ZNF780A_ENST00000450241.2_Silent_p.K543K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	577					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388																																						uc002omy.2																			0					0						c.(1729-1731)AAA>AAG		zinc finger protein 780A isoform b							140.0	140.0	140.0					19																	40580618		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580618T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1731A>G	19.37:g.40580618T>C						ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.K577K|ZNF780A_uc010xvh.1_Silent_p.K578K	p.K577K	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1956	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		577			C2H2-type 15.		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1731A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
PPFIA3	8541	broad.mit.edu	37	19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	ENST00000334186.4	+	7	1089	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A247G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	247					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692																																						uc002pmr.2																			0				lung(1)	1						c.(739-741)GCC>GGC		PTPRF interacting protein alpha 3							11.0	13.0	12.0					19																	49633717		2163	4248	6411	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49633717C>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.740C>G	19.37:g.49633717C>G	ENSP00000335614:p.Ala247Gly					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A115G	p.A247G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	7	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	247			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.740C>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	7.792	0.711703	0.15306	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.42513	0.97	4.15	3.09	0.35607	.	0.309004	0.22910	N	0.054159	T	0.31734	0.0806	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.056;0.007;0.001	B;B;B	0.19946	0.027;0.008;0.003	T	0.14811	-1.0459	10	0.22109	T	0.4	-13.1917	6.4627	0.21966	0.0:0.5398:0.3616:0.0986	.	171;247;247	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	G	247;171	ENSP00000335614:A247G	ENSP00000335614:A247G	A	+	2	0	PPFIA3	54325529	0.000000	0.05858	0.044000	0.18714	0.796000	0.44982	0.230000	0.17852	1.091000	0.41335	0.305000	0.20034	GCC		0.692	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
ZNF544	27300	broad.mit.edu	37	19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	ENST00000596652.1	+	6	678	c.444G>C	c.(442-444)gaG>gaC	p.E148D	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.E148D|ZNF544_ENST00000599953.1_Missense_Mutation_p.E6D|ZNF544_ENST00000415203.2_Missense_Mutation_p.E120D|ZNF544_ENST00000600044.1_Missense_Mutation_p.E120D|ZNF544_ENST00000600220.1_Missense_Mutation_p.E120D|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448																																						uc010euo.2																			0				pancreas(1)	1						c.(442-444)GAG>GAC		zinc finger protein 544							100.0	89.0	93.0					19																	58772416		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772416G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.444G>C	19.37:g.58772416G>C	ENSP00000469635:p.Glu148Asp					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120D|ZNF544_uc010yhy.1_Missense_Mutation_p.E120D|ZNF544_uc002qrt.3_Missense_Mutation_p.E6D|ZNF544_uc002qru.3_Missense_Mutation_p.E6D|uc002qrx.1_Intron	p.E148D	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	918	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	148					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.444G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087036	0.20390	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08634	3.13;3.07	3.12	-0.442	0.12253	.	.	.	.	.	T	0.04724	0.0128	N	0.20986	0.625	0.20489	N	0.999897	B;B;B	0.33857	0.024;0.016;0.429	B;B;B	0.33799	0.008;0.003;0.17	T	0.40701	-0.9549	9	0.30078	T	0.28	.	2.8128	0.05446	0.2573:0.0:0.5232:0.2195	.	120;120;148	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	D	148;120	ENSP00000269829:E148D;ENSP00000394341:E120D	ENSP00000269829:E148D	E	+	3	2	ZNF544	63464228	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.029000	0.13666	-0.096000	0.12329	0.655000	0.94253	GAG		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Silent_p.D82D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						uc002tjc.2																			0				ovary(2)	2						c.(244-246)GAC>GAT		pleckstrin and Sec7 domain containing 4		T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	p.D82D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	429	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413																																						uc002ttv.1																			0				ovary(2)|skin(1)	3						c.(1174-1176)GCC>GTC		N-acetylglucosaminyltransferase V							145.0	139.0	141.0					2																	135107438		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107438C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val						p.A392V	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	9	1320	+			392			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1175C>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	MGAT5	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	
XIRP2	129446	broad.mit.edu	37	2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	ENST00000409195.1	+	9	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3304H|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3082H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3129					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCCTCCTCGCCTGTCAGAG	0.438																																						uc002udx.2																			0				skin(7)|ovary(6)|pancreas(1)	14						c.(9910-9912)CGC>CAC		xin actin-binding repeat containing 2 isoform 1							106.0	107.0	107.0					2																	168107813		2025	4191	6216	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107813G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9911G>A	2.37:g.168107813G>A	ENSP00000386840:p.Arg3304His					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.2_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.2_Intron	p.R3304H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9929	+			3129					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9911G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553755	0.03996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02579	4.24;4.24;4.24	5.67	-3.91	0.04168	.	0.818994	0.11350	N	0.573066	T	0.01156	0.0038	N	0.04880	-0.145	0.09310	N	1	P;B;B	0.35050	0.482;0.003;0.001	B;B;B	0.25759	0.063;0.002;0.002	T	0.50320	-0.8842	10	0.13470	T	0.59	11.3009	9.3978	0.38412	0.6913:0.0:0.1912:0.1175	.	3129;3129;3082	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3304;3304;3082;718	ENSP00000386840:R3304H;ENSP00000295237:R3304H;ENSP00000387255:R3082H	ENSP00000295237:R3304H	R	+	2	0	XIRP2	167816059	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.188000	0.17018	-0.793000	0.04475	-0.237000	0.12165	CGC		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	broad.mit.edu	37	2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	ENST00000263816.3	-	13	1994	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	570					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R570H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAGTAAACACGCTTCGATAT	0.408																																						uc002ues.2																			1	Substitution - Missense(1)		ovary(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1708-1710)CGT>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						143.0	139.0	140.0					2																	170134318		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134318C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1709G>A	2.37:g.170134318C>T	ENSP00000263816:p.Arg570His					LRP2_uc010zdf.1_Intron	p.R570H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1922	-			570			LDL-receptor class B 4.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1709G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856724	0.71834	.	.	ENSG00000081479	ENST00000263816	D	0.91945	-2.94	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95349	0.8445	10	0.42905	T	0.14	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	570	P98164	LRP2_HUMAN	H	570	ENSP00000263816:R570H	ENSP00000263816:R570H	R	-	2	0	LRP2	169842564	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.723000	0.84788	2.680000	0.91292	0.555000	0.69702	CGT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	ENST00000591111.1	-	308	97535_97538	c.97311_97314delAAGA	c.(97309-97314)gaaagafs	p.ER32437fs	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.ER25138fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.ER25013fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.ER34078fs|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.ER31510fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.ER25205fs|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32437					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)			TAGTACTGACTCTTTCTATCTTCT	0.461																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94528-94533)GAAAGAfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399105_179399108delTCTT	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.97311_97314delAAGA	2.37:g.179399105_179399108delTCTT	ENSP00000465570:p.Glu32437fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.E25205fs|TTN_uc010zfi.1_Frame_Shift_Del_p.E25138fs|TTN_uc010zfj.1_Frame_Shift_Del_p.E25013fs	p.E31510fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94754_94757	-			32437_32438					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.94530_94533delAAGA																																																																																					0.461	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	ENST00000591111.1	-	140	33004	c.32780C>T	c.(32779-32781)cCg>cTg	p.P10927L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11244L|TTN_ENST00000342992.6_Missense_Mutation_p.P10000L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11698	Glu-rich.|Pro-rich.				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)			TTTTGCTGGCGGAGGCTTCTC	0.413																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29998-30000)CCG>CTG		titin isoform N2-A							107.0	102.0	104.0					2																	179544077		1858	4101	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544077G>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.32780C>T	2.37:g.179544077G>A	ENSP00000465570:p.Pro10927Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P10000L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	30223	-			10927					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29999C>T		.	.	.	.	.	.	.	.	.	.	G	8.032	0.761929	0.15914	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.93	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69726	0.3143	M	0.88775	2.98	0.80722	D	1	B	0.26195	0.144	B	0.16722	0.016	T	0.71639	-0.4532	9	0.87932	D	0	.	10.5228	0.44929	0.0697:0.0:0.7972:0.1331	.	10927	Q8WZ42	TITIN_HUMAN	L	10000	ENSP00000343764:P10000L	ENSP00000343764:P10000L	P	-	2	0	TTN	179252322	0.998000	0.40836	0.996000	0.52242	0.114000	0.19823	3.721000	0.54941	1.513000	0.48852	0.655000	0.94253	CCG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SDPR	8436	broad.mit.edu	37	2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T	rs371428159		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	ENST00000304141.4	-	1	385	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTTTTCCTGCCGCATGTCAGA	0.607																																						uc002utb.2																			0				ovary(1)|pancreas(1)	2						c.(55-57)CGG>CAG		serum deprivation response protein	Phosphatidylserine(DB00144)	C	GLN/ARG	0,4406		0,0,2203	65.0	64.0	64.0		56	-2.2	0.1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDPR	NM_004657.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	19/426	192711596	1,13005	2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711596C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.56G>A	2.37:g.192711596C>T	ENSP00000305675:p.Arg19Gln						p.R19Q	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	386	-			19						Missense_Mutation	SNP	ENST00000304141.4	37	c.56G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391751	0.04932	0.0	1.16E-4	ENSG00000168497	ENST00000304141	T	0.63096	-0.02	4.84	-2.25	0.06888	.	1.325690	0.04910	N	0.453002	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08046	-1.0741	10	0.19147	T	0.46	-0.3117	1.0706	0.01620	0.1489:0.3431:0.209:0.299	.	19	O95810	SDPR_HUMAN	Q	19	ENSP00000305675:R19Q	ENSP00000305675:R19Q	R	-	2	0	SDPR	192419841	0.000000	0.05858	0.121000	0.21740	0.210000	0.24377	-0.086000	0.11233	-0.300000	0.08895	-1.090000	0.02178	CGG		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
NGEF	25791	broad.mit.edu	37	2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	ENST00000264051.3	-	15	2311	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_ENST00000373552.4_Missense_Mutation_p.S586Y|NGEF_ENST00000539537.1_Missense_Mutation_p.S401Y	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	678					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582																																						uc002vts.2																			0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(2032-2034)TCC>TAC		neuronal guanine nucleotide exchange factor							93.0	93.0	93.0					2																	233744299		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744299G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2033C>A	2.37:g.233744299G>T	ENSP00000264051:p.Ser678Tyr					NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	p.S678Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	15	2281	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	678					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2033C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157428	0.57259	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.72282	-0.43;-0.64;-0.59	4.19	4.19	0.49359	.	0.143980	0.47455	D	0.000240	T	0.61874	0.2382	N	0.08118	0	0.35136	D	0.76844	P;D	0.56521	0.828;0.976	B;P	0.51016	0.37;0.656	T	0.76239	-0.3032	10	0.62326	D	0.03	-25.0391	16.5379	0.84377	0.0:0.0:1.0:0.0	.	586;678	E9PC42;Q8N5V2	.;NGEF_HUMAN	Y	678;586;568;401	ENSP00000264051:S678Y;ENSP00000362653:S586Y;ENSP00000439035:S401Y	ENSP00000264051:S678Y	S	-	2	0	NGEF	233452543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.139000	0.64801	1.868000	0.54150	0.558000	0.71614	TCC		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
MYH7B	57644	broad.mit.edu	37	20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	ENST00000262873.7	+	34	4458	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1414						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607																																						uc002xbi.1																			0				ovary(1)|breast(1)	2						c.(4366-4368)GCC>ACC		myosin, heavy polypeptide 7B, cardiac muscle,							24.0	33.0	30.0					20																	33586908		2194	4297	6491	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586908G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4366G>A	20.37:g.33586908G>A	ENSP00000262873:p.Ala1456Thr						p.A1456T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		34	4458	+			1414			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4366G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893412	0.72524	.	.	ENSG00000078814	ENST00000262873	T	0.79033	-1.23	4.54	4.54	0.55810	Myosin tail (1);	0.000000	0.34386	N	0.004002	T	0.78317	0.4264	L	0.60957	1.885	0.35848	D	0.826578	P	0.43578	0.811	B	0.43838	0.433	D	0.85457	0.1164	10	0.59425	D	0.04	.	17.504	0.87739	0.0:0.0:1.0:0.0	.	1414	A7E2Y1	MYH7B_HUMAN	T	1456	ENSP00000262873:A1456T	ENSP00000262873:A1456T	A	+	1	0	MYH7B	33050569	0.999000	0.42202	0.552000	0.28243	0.906000	0.53458	4.558000	0.60789	2.352000	0.79861	0.561000	0.74099	GCC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
SALL4	57167	broad.mit.edu	37	20	50407987	50407987	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	ENST00000217086.4	-	2	1146	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.Q345Q	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	345					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632																																						uc002xwh.3																			0				ovary(2)	2						c.(1033-1035)CAG>CAA		sal-like 4							35.0	38.0	37.0					20																	50407987		2202	4299	6501	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407987C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1035G>A	20.37:g.50407987C>T						SALL4_uc010gii.2_Silent_p.Q345Q|SALL4_uc002xwi.3_Intron	p.Q345Q	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1136	-			345					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1035G>A	CCDS13438.1																																																																																				0.632	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
COL20A1	57642	broad.mit.edu	37	20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	ENST00000358894.6	+	12	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_ENST00000422202.1_Missense_Mutation_p.A479V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A472V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A479V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	472	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687																																						uc011aau.1																			0				central_nervous_system(1)	1						c.(1414-1416)GCG>GTG		collagen, type XX, alpha 1							10.0	13.0	12.0					20																	61942767		2025	4159	6184	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61942767C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1415C>T	20.37:g.61942767C>T	ENSP00000351767:p.Ala472Val					COL20A1_uc011aav.1_Missense_Mutation_p.A293V	p.A472V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			12	1515	+	all_cancers(38;1.39e-10)		472			Fibronectin type-III 3.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1415C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524396	0.27299	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.3	3.34	0.38264	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.425918	0.22979	N	0.053338	T	0.46927	0.1418	L	0.54323	1.7	0.09310	N	1	P;P	0.50443	0.92;0.935	B;B	0.41135	0.236;0.348	T	0.40059	-0.9583	10	0.49607	T	0.09	.	11.8786	0.52562	0.0:0.822:0.178:0.0	.	479;472	Q9P218-2;Q9P218	.;COKA1_HUMAN	V	472;472;479;479	ENSP00000351767:A472V;ENSP00000323077:A472V;ENSP00000408690:A479V;ENSP00000414753:A479V	ENSP00000323077:A472V	A	+	2	0	COL20A1	61413212	0.000000	0.05858	0.023000	0.16930	0.098000	0.18820	-0.092000	0.11129	0.779000	0.33543	0.467000	0.42956	GCG		0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
CCT8L2	150160	broad.mit.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	ENST00000359963.3	-	1	1159	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	300					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493																																						uc002zlp.1																			0				ovary(1)	1						c.(898-900)GAC>GAT		T-complex protein 1							194.0	173.0	180.0					22																	17072541		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072541G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.900C>T	22.37:g.17072541G>A							p.D300D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1160	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	300					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.900C>T	CCDS13738.1																																																																																				0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
PARVG	64098	broad.mit.edu	37	22	44586519	44586519	+	Silent	SNP	C	C	T	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	ENST00000444313.3	+	7	961	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_ENST00000422871.1_Silent_p.N159N|PARVG_ENST00000415224.1_Silent_p.N159N	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	159					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602																																						uc011aqe.1																			0					0						c.(475-477)AAC>AAT		parvin, gamma							89.0	71.0	77.0					22																	44586519		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44586519C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.477C>T	22.37:g.44586519C>T						PARVG_uc003bep.2_Silent_p.N159N|PARVG_uc011aqf.1_Silent_p.N159N|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.N159N	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			7	901	+		Ovarian(80;0.024)|all_neural(38;0.0299)	159					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.477C>T	CCDS14057.1																																																																																				0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
PPARG	5468	broad.mit.edu	37	3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T	rs573789959		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	ENST00000287820.6	+	5	789	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_ENST00000397012.2_Missense_Mutation_p.A195V|PPARG_ENST00000397015.2_Missense_Mutation_p.A195V|PPARG_ENST00000539812.1_Missense_Mutation_p.A193V|PPARG_ENST00000309576.6_Missense_Mutation_p.A195V|PPARG_ENST00000397010.2_Missense_Mutation_p.A195V|PPARG_ENST00000397000.1_Missense_Mutation_p.A195V|PPARG_ENST00000397026.2_Missense_Mutation_p.A201V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	223	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		18697	0.001		0.0	False		,,,				2504	0.0					uc003bwx.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(667-669)GCG>GTG		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						77.0	76.0	76.0					3																	12447429		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447429C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.668C>T	3.37:g.12447429C>T	ENSP00000287820:p.Ala223Val					PPARG_uc003bwr.2_Missense_Mutation_p.A195V|PPARG_uc003bws.2_Missense_Mutation_p.A195V|PPARG_uc003bwu.2_Missense_Mutation_p.A195V|PPARG_uc003bwv.2_Missense_Mutation_p.A195V|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.A195V|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	p.A223V	NM_015869	NP_056953	P37231	PPARG_HUMAN			5	759	+			223			Interaction with FAM120B (By similarity).		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.668C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009273	0.93346	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.93906	-3.3;-3.3;-3.3;-3.3;-3.31;-2.81;-2.81;-3.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.995	P;B;B	0.48704	0.587;0.437;0.251	D	0.95636	0.8694	10	0.56958	D	0.05	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	223;209;195	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	195;195;195;195;201;195;193;223	ENSP00000380205:A195V;ENSP00000312472:A195V;ENSP00000380210:A195V;ENSP00000380207:A195V;ENSP00000380221:A201V;ENSP00000380196:A195V;ENSP00000438940:A193V;ENSP00000287820:A223V	ENSP00000287820:A223V	A	+	2	0	PPARG	12422429	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	7.263000	0.78421	2.741000	0.93983	0.650000	0.86243	GCG		0.512	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037	
FOXL2NB	401089	broad.mit.edu	37	3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	ENST00000383165.3	+	3	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692																																						uc003esx.1																			0					0						c.(262-264)CGG>TGG		chromosome 3 open reading frame 72							12.0	17.0	15.0					3																	138669148		1574	3696	5270	SO:0001583	missense	401089							g.chr3:138669148C>T																												ENST00000383165.3:c.262C>T	3.37:g.138669148C>T	ENSP00000372651:p.Arg88Trp					C3orf72_uc011bmr.1_3'UTR	p.R88W	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			3	393	+			88					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.262C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910914	0.17833	.	.	ENSG00000206262	ENST00000383165	.	.	.	0.985	-1.97	0.07503	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17561	-1.0365	8	0.87932	D	0	.	2.2287	0.03991	0.256:0.4162:0.0:0.3278	.	88	Q6ZUU3	CC072_HUMAN	W	88	.	ENSP00000372651:R88W	R	+	1	2	C3orf72	140151838	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.082000	0.01365	-1.225000	0.02578	0.305000	0.20034	CGG		0.692	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
SUCNR1	56670	broad.mit.edu	37	3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	ENST00000362032.5	+	3	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	43						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433																																						uc003ezf.1																			0				ovary(1)	1						c.(127-129)ATT>ACT		succinate receptor 1	Succinic acid(DB00139)						188.0	197.0	194.0					3																	151598459		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598459T>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.128T>C	3.37:g.151598459T>C	ENSP00000355156:p.Ile43Thr						p.I43T	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	227	+			43			Helical; Name=1; (Potential).		A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.128T>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	T	0.189	-1.054847	0.01965	.	.	ENSG00000198829	ENST00000362032	T	0.72282	-0.64	5.27	-3.46	0.04767	GPCR, rhodopsin-like superfamily (1);	1.290650	0.05170	N	0.499470	T	0.46502	0.1396	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31668	-0.9935	10	0.38643	T	0.18	.	15.1187	0.72426	0.0:0.2351:0.0:0.7649	.	43	Q9BXA5	SUCR1_HUMAN	T	43	ENSP00000355156:I43T	ENSP00000355156:I43T	I	+	2	0	SUCNR1	153081149	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.052000	0.14163	-1.064000	0.03172	-0.256000	0.11100	ATT		0.433	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
ZNF732	654254	broad.mit.edu	37	4	266352	266352	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	ENST00000419098.1	-	4	304	c.294T>C	c.(292-294)ctT>ctC	p.L98L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328																																						uc011buu.1																			0					0						c.(289-291)CTT>CTC		zinc finger protein 732							67.0	53.0	57.0					4																	266352		692	1589	2281	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:266352A>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.294T>C	4.37:g.266352A>G						ZNF732_uc010ibb.1_Intron	p.L97L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	305	-			98						Silent	SNP	ENST00000419098.1	37	c.291T>C	CCDS46990.1																																																																																				0.328	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608	
WDR19	57728	broad.mit.edu	37	4	39267694	39267694	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	ENST00000399820.3	+	29	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_ENST00000288634.7_Silent_p.A905A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1065					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473																																						uc003gtv.2																			0				large_intestine(1)	1						c.(3193-3195)GCC>GCT		WD repeat domain 19							61.0	60.0	60.0					4																	39267694		1912	4123	6035	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39267694C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3195C>T	4.37:g.39267694C>T						WDR19_uc011byi.1_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	p.A1065A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			29	3349	+			1065					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3195C>T	CCDS47042.1																																																																																				0.473	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
GUCY1B3	2983	broad.mit.edu	37	4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	ENST00000264424.8	+	9	1232	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.E364*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.E406*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.E384*|GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.E316*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	384					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393																																						uc003ipc.2																			0					0						c.(1150-1152)GAA>TAA		guanylate cyclase 1, soluble, beta 3							90.0	89.0	89.0					4																	156721201		1896	4118	6014	SO:0001587	stop_gained	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156721201G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1150G>T	4.37:g.156721201G>T	ENSP00000264424:p.Glu384*					GUCY1B3_uc011cio.1_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.E312*	p.E384*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	9	1317	+	all_hematologic(180;0.24)	Renal(120;0.0854)	384					B7Z426|Q86WY5	Nonsense_Mutation	SNP	ENST00000264424.8	37	c.1150G>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970294	0.97971	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	316;406;364;316;384;384;316	.	ENSP00000264424:E384X	E	+	1	0	GUCY1B3	156940651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.808000	0.96608	0.655000	0.94253	GAA		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ICE1	23379	broad.mit.edu	37	5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	ENST00000296564.7	+	13	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1548					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358																																						uc003jdm.3																			0				ovary(1)|central_nervous_system(1)	2						c.(4642-4644)CCA>CGA		hypothetical protein LOC23379							43.0	40.0	41.0					5																	5464090		1833	4092	5925	SO:0001583	missense	23379							g.chr5:5464090C>G																												ENST00000296564.7:c.4643C>G	5.37:g.5464090C>G	ENSP00000296564:p.Pro1548Arg						p.P1548R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4865	+			1548					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4643C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926172	0.73327	.	.	ENSG00000164151	ENST00000296564	T	0.13420	2.59	5.27	5.27	0.74061	.	.	.	.	.	T	0.25644	0.0624	L	0.29908	0.895	0.41607	D	0.988885	D	0.89917	1.0	D	0.77004	0.989	T	0.01249	-1.1406	9	0.54805	T	0.06	-9.5664	14.3822	0.66919	0.0:1.0:0.0:0.0	.	1548	Q9Y2F5	K0947_HUMAN	R	1548	ENSP00000296564:P1548R	ENSP00000296564:P1548R	P	+	2	0	KIAA0947	5517090	0.380000	0.25131	0.905000	0.35620	0.966000	0.64601	1.745000	0.38278	2.453000	0.82957	0.460000	0.39030	CCA		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
BDP1	55814	broad.mit.edu	37	5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	ENST00000358731.4	+	17	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1328					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408																																						uc003kbp.1																			0				skin(2)	2						c.(3982-3984)ACC>AAC		transcription factor-like nuclear regulator							118.0	112.0	114.0					5																	70806902		1913	4125	6038	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806902C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3983C>A	5.37:g.70806902C>A	ENSP00000351575:p.Thr1328Asn					BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.2_Missense_Mutation_p.T1328N	p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4246	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1328					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3983C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722144	0.48728	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11277	2.79	3.24	1.46	0.22682	.	1.251600	0.05849	N	0.620895	T	0.22551	0.0544	L	0.51422	1.61	0.18873	N	0.999986	D;D;D	0.67145	0.98;0.996;0.991	P;P;P	0.62184	0.744;0.899;0.852	T	0.14504	-1.0470	10	0.62326	D	0.03	.	5.4458	0.16535	0.0:0.7377:0.0:0.2623	.	1328;1328;1328	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	1328;908	ENSP00000351575:T1328N	ENSP00000351575:T1328N	T	+	2	0	BDP1	70842658	0.000000	0.05858	0.065000	0.19835	0.208000	0.24298	-0.243000	0.08915	0.412000	0.25729	-0.379000	0.06801	ACC		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537																																						uc003kei.1																			0				skin(1)	1						c.(433-435)TGC>TGT		synaptic vesicle glycoprotein 2C							199.0	198.0	198.0					5																	75428010		2039	4185	6224	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428010C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T							p.C145C	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	569	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	145			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.435C>T	CCDS43331.1																																																																																				0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
FAM81B	153643	broad.mit.edu	37	5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A	rs577772054		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	ENST00000283357.5	+	4	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	171						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0					uc003kla.1																			0				ovary(1)|skin(1)	2						c.(511-513)GTC>ATC		hypothetical protein LOC153643							97.0	93.0	95.0					5																	94749868		1920	4138	6058	SO:0001583	missense	153643							g.chr5:94749868G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.511G>A	5.37:g.94749868G>A	ENSP00000283357:p.Val171Ile					FAM81B_uc010jbe.1_5'UTR	p.V171I	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	557	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	171			Potential.			Missense_Mutation	SNP	ENST00000283357.5	37	c.511G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756283	0.89843	.	.	ENSG00000153347	ENST00000283357	T	0.35605	1.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.79258	2.445	0.37653	D	0.922469	D	0.89917	1.0	D	0.81914	0.995	T	0.66575	-0.5889	10	0.45353	T	0.12	-15.959	18.2543	0.90014	0.0:0.0:1.0:0.0	.	171	Q96LP2	FA81B_HUMAN	I	171	ENSP00000283357:V171I	ENSP00000283357:V171I	V	+	1	0	FAM81B	94775624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.619000	0.83057	2.602000	0.87976	0.650000	0.86243	GTC		0.418	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
PCDHA1	56147	broad.mit.edu	37	5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	ENST00000504120.2	+	1	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R92C|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R92C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567																																						uc003lhb.2																			0				skin(1)	1						c.(274-276)CGC>TGC		protocadherin alpha 1 isoform 1 precursor							86.0	91.0	89.0					5																	140166149		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166149C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.274C>T	5.37:g.140166149C>T	ENSP00000420840:p.Arg92Cys					PCDHA1_uc003lha.2_Missense_Mutation_p.R92C|PCDHA1_uc003lgz.2_Missense_Mutation_p.R92C	p.R92C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	274	+			92			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.274C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.073762	0.36566	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001170	D	0.83501	0.5268	H	0.99634	4.67	0.42535	D	0.993053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89168	0.3535	10	0.87932	D	0	.	11.246	0.48998	0.3204:0.6796:0.0:0.0	.	92;92;92	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	C	92	ENSP00000420840:R92C;ENSP00000378129:R92C;ENSP00000367373:R92C	ENSP00000367373:R92C	R	+	1	0	PCDHA1	140146333	0.990000	0.36364	0.996000	0.52242	0.075000	0.17131	0.554000	0.23407	2.127000	0.65507	0.650000	0.86243	CGC		0.567	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
MED7	9443	broad.mit.edu	37	5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	ENST00000286317.5	-	2	1058	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_ENST00000420343.1_Missense_Mutation_p.I226T	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	226					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323																																						uc010jik.2																			0					0						c.(676-678)ATT>ACT		mediator complex subunit 7							155.0	151.0	152.0					5																	156565766		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565766A>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.677T>C	5.37:g.156565766A>G	ENSP00000286317:p.Ile226Thr					MED7_uc003lwm.3_Missense_Mutation_p.I226T	p.I226T	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1069	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	226						Missense_Mutation	SNP	ENST00000286317.5	37	c.677T>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693322	0.30052	.	.	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.39898	1.24	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.47394	-0.9121	9	0.45353	T	0.12	-5.3088	11.8391	0.52344	0.9317:0.0:0.0683:0.0	.	226	O43513	MED7_HUMAN	T	226	.	ENSP00000286317:I226T	I	-	2	0	MED7	156498344	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	8.700000	0.91322	1.019000	0.39547	0.533000	0.62120	ATT		0.323	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270	
ADAMTS2	9509	broad.mit.edu	37	5	178581109	178581109	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	ENST00000251582.7	-	8	1424	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_ENST00000274609.5_Silent_p.A441A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	441	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711																																						uc003mjw.2																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1321-1323)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							19.0	19.0	19.0					5																	178581109		2198	4296	6494	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581109G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1323C>T	5.37:g.178581109G>A						ADAMTS2_uc011dgm.1_Silent_p.A441A	p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	8	1323	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	441			Peptidase M12B.			Silent	SNP	ENST00000251582.7	37	c.1323C>T	CCDS4444.1																																																																																				0.711	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
MUT	4594	broad.mit.edu	37	6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T	rs564069299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	ENST00000274813.3	-	6	1233	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	369			R -> C (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.|R -> H (in MMAM; mut- and mut0). {ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:9285782}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348																																						uc003ozg.3																			0					0	GRCh37	CM990882	MUT	M		c.(1105-1107)CGT>CAT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59.0	54.0	56.0					6																	49419405		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49419405C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1106G>A	6.37:g.49419405C>T	ENSP00000274813:p.Arg369His						p.R369H	NM_000255	NP_000246	P22033	MUTA_HUMAN			6	1361	-	Lung NSC(77;0.0376)		369		R -> H (in MMAM; mut- and mut0).|R -> C (in MMAM; mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1106G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009540	0.93346	.	.	ENSG00000146085	ENST00000274813	D	0.99652	-6.3	5.05	5.05	0.67936	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-8.1074	17.3928	0.87437	0.0:1.0:0.0:0.0	.	369	P22033	MUTA_HUMAN	H	369	ENSP00000274813:R369H	ENSP00000274813:R369H	R	-	2	0	MUT	49527364	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.347000	0.79759	0.467000	0.42956	CGT		0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
ZNF451	26036	broad.mit.edu	37	6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	ENST00000370706.4	+	3	381	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_ENST00000370710.6_Missense_Mutation_p.I46T|ZNF451_ENST00000357489.3_Missense_Mutation_p.I46T|ZNF451_ENST00000370702.1_Missense_Mutation_p.I46T|ZNF451_ENST00000510989.1_3'UTR|ZNF451_ENST00000491832.2_Missense_Mutation_p.I46T|ZNF451_ENST00000370708.4_Missense_Mutation_p.I46T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338																																						uc003pdm.1																			0				ovary(1)|pancreas(1)	2						c.(136-138)ATT>ACT		zinc finger protein 451 isoform 1							207.0	188.0	195.0					6																	56963890		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56963890T>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.137T>C	6.37:g.56963890T>C	ENSP00000359740:p.Ile46Thr					ZNF451_uc003pdl.2_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.1_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.2_RNA|uc003pdp.2_5'Flank	p.I46T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	361	+	Lung NSC(77;0.145)		46					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.137T>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110651	0.77210	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000370708;ENST00000370702;ENST00000508603;ENST00000491832;ENST00000370710	T;T;T;T;T;T;T	0.76709	3.07;3.07;3.07;-1.04;3.07;3.07;3.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.71581	2.175	0.51233	D	0.999918	P;D;D;D;D	0.89917	0.831;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.824;0.999;0.997;0.999;0.997	D	0.86495	0.1800	10	0.87932	D	0	-20.0448	12.7987	0.57573	0.0:0.0:0.0:1.0	.	46;46;46;46;46	Q9Y4E5-4;Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;.;ZN451_HUMAN;.;.	T	18;46;46;46;46;18;46;46	ENSP00000427558:I18T;ENSP00000359740:I46T;ENSP00000350083:I46T;ENSP00000359742:I46T;ENSP00000359736:I46T;ENSP00000421645:I46T;ENSP00000359744:I46T	ENSP00000350083:I46T	I	+	2	0	ZNF451	57071849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.248000	0.58760	2.272000	0.75746	0.460000	0.39030	ATT		0.338	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
SIM1	6492	broad.mit.edu	37	6	100896122	100896122	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	ENST00000369208.3	-	8	1532	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_ENST00000262901.4_Silent_p.A250A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	250	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627																																						uc003pqj.3																			0				ovary(4)	4						c.(748-750)GCG>GCA		single-minded homolog 1							102.0	76.0	85.0					6																	100896122		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896122C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.750G>A	6.37:g.100896122C>T						SIM1_uc010kcu.2_Silent_p.A250A	p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	7	957	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	250			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.750G>A	CCDS5045.1																																																																																				0.627	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
AIM1	202	broad.mit.edu	37	6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	ENST00000369066.3	+	17	5228	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_ENST00000535438.1_Nonsense_Mutation_p.R400*	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378																																						uc003prh.2																			0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(4741-4743)CGA>TGA		absent in melanoma 1							155.0	156.0	156.0					6																	107008787		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:107008787C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4741C>T	6.37:g.107008787C>T	ENSP00000358062:p.Arg1581*					AIM1_uc003pri.2_Nonsense_Mutation_p.R385*	p.R1581*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	17	5228	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1581			Beta/gamma crystallin 'Greek key' 12.		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.4741C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	47	13.806019	0.99764	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	.	.	.	6.06	0.229	0.15368	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2426	0.54551	0.4448:0.4928:0.0:0.0623	.	.	.	.	X	1581;400	.	ENSP00000358062:R1581X	R	+	1	2	AIM1	107115480	0.907000	0.30839	0.800000	0.32199	0.993000	0.82548	1.728000	0.38105	0.093000	0.17368	0.655000	0.94253	CGA		0.378	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
HECA	51696	broad.mit.edu	37	6	139488187	139488187	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	ENST00000367658.2	+	2	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	346					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597																																						uc003qin.2																			0					0						c.(1036-1038)CGG>CGA		headcase							59.0	56.0	57.0					6																	139488187		2203	4300	6503	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139488187G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1038G>A	6.37:g.139488187G>A							p.R346R	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1323	+			346						Silent	SNP	ENST00000367658.2	37	c.1038G>A	CCDS5194.1																																																																																				0.597	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
SNX9	51429	broad.mit.edu	37	6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	ENST00000392185.3	+	14	1603	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	478	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348																																						uc003qqv.1																			0					0						c.(1432-1434)GTG>TTG		sorting nexin 9							74.0	68.0	70.0					6																	158357061		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357061G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1432G>T	6.37:g.158357061G>T	ENSP00000376024:p.Val478Leu						p.V478L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	14	1605	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	478			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1432G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652529	0.88056	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.39056	1.1	5.42	4.53	0.55603	Sorting nexin protein, WASP-binding domain (1);	0.127264	0.52532	D	0.000074	T	0.36717	0.0977	L	0.51422	1.61	0.80722	D	1	D	0.53151	0.958	P	0.48770	0.589	T	0.38415	-0.9662	10	0.72032	D	0.01	-0.9508	16.0164	0.80443	0.0:0.135:0.8649:0.0	.	478	Q9Y5X1	SNX9_HUMAN	L	478;478;278	ENSP00000376024:V478L	ENSP00000252631:V278L	V	+	1	0	SNX9	158277049	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	8.967000	0.93402	2.045000	0.60652	0.533000	0.62120	GTG		0.348	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
STK31	56164	broad.mit.edu	37	7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	ENST00000355870.3	+	21	2716	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_ENST00000433467.2_Missense_Mutation_p.E866G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E843G|STK31_ENST00000354639.3_Missense_Mutation_p.E843G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353																																						uc003sws.3																			0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2596-2598)GAA>GGA		serine/threonine kinase 31 isoform a							115.0	107.0	110.0					7																	23827708		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23827708A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2597A>G	7.37:g.23827708A>G	ENSP00000348132:p.Glu866Gly					STK31_uc003swt.3_Missense_Mutation_p.E843G|STK31_uc011jze.1_Missense_Mutation_p.E866G|STK31_uc010kuq.2_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	p.E866G	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			21	2664	+			866			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2597A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779747	0.49891	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.68624	-0.34;2.44;-0.34;-0.34	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115012	0.56097	D	0.000030	T	0.62171	0.2406	N	0.20574	0.59	0.38119	D	0.937797	P;P;P	0.51147	0.942;0.722;0.549	P;P;B	0.54759	0.76;0.506;0.425	T	0.62955	-0.6744	10	0.24483	T	0.36	-11.0181	11.7901	0.52065	0.8685:0.0:0.0:0.1315	.	866;866;866	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	G	866;866;843;843	ENSP00000348132:E866G;ENSP00000411852:E866G;ENSP00000346660:E843G;ENSP00000406146:E843G	ENSP00000346660:E843G	E	+	2	0	STK31	23794233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.293000	0.65680	2.275000	0.75901	0.528000	0.53228	GAA		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
SUGCT	79783	broad.mit.edu	37	7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A	rs192547523		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	ENST00000335693.4	+	9	823	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_ENST00000401647.2_Missense_Mutation_p.R219H|C7orf10_ENST00000309930.5_Missense_Mutation_p.R267H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		267					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16694	0.001		0.0	False		,,,				2504	0.0					uc003thn.1																			0				ovary(2)	2						c.(778-780)CGT>CAT		dermal papilla derived protein 13							77.0	77.0	77.0					7																	40356417		1874	4120	5994	SO:0001583	missense	79783						transferase activity	g.chr7:40356417G>A																												ENST00000335693.4:c.800G>A	7.37:g.40356417G>A	ENSP00000338475:p.Arg267His					C7orf10_uc003thm.1_Missense_Mutation_p.R230H|C7orf10_uc003tho.1_Missense_Mutation_p.R212H	p.R260H	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			9	824	+			267					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.779G>A	CCDS55105.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	16.56|16.56	3.156791|3.156791	0.57259|0.57259	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.60797|.	0.16;0.16;0.16|.	5.45|5.45	3.66|3.66	0.41972|0.41972	CoA-transferase family III domain (2);|.	0.050749|.	0.85682|.	D|.	0.000000|.	T|T	0.76176|0.76176	0.3951|0.3951	H|H	0.96208|0.96208	3.785|3.785	0.27632|0.27632	N|N	0.948005|0.948005	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.71031|0.71031	-0.4710|-0.4710	10|5	0.87932|.	D|.	0|.	-2.9633|-2.9633	9.8616|9.8616	0.41118|0.41118	0.1576:0.0:0.8424:0.0|0.1576:0.0:0.8424:0.0	.|.	219;267;230|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	H|I	267;219;267|262	ENSP00000312054:R267H;ENSP00000385222:R219H;ENSP00000338475:R267H|.	ENSP00000312054:R267H|.	R|V	+|+	2|1	0|0	C7orf10|C7orf10	40322942|40322942	0.991000|0.991000	0.36638|0.36638	0.017000|0.017000	0.16124|0.16124	0.838000|0.838000	0.47535|0.47535	4.917000|4.917000	0.63369|0.63369	0.787000|0.787000	0.33731|0.33731	0.557000|0.557000	0.71058|0.71058	CGT|GTT		0.388	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
MUC17	140453	broad.mit.edu	37	7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	ENST00000306151.4	+	3	4616	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1518	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.483																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4552-4554)AGT>GGT		mucin 17 precursor							228.0	207.0	214.0					7																	100679249		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679249A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4552A>G	7.37:g.100679249A>G	ENSP00000302716:p.Ser1518Gly					MUC17_uc010lho.1_RNA	p.S1518G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4605	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1518			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4552A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.167	-0.641985	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.462	-0.704	0.11256	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.47142	-0.9140	8	0.32370	T	0.25	.	.	.	.	.	1518	Q685J3	MUC17_HUMAN	G	1518	ENSP00000302716:S1518G	ENSP00000302716:S1518G	S	+	1	0	MUC17	100465969	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.435000	0.02423	-0.295000	0.08960	0.102000	0.15555	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
KCNU1	157855	broad.mit.edu	37	8	36768588	36768588	+	Silent	SNP	C	C	T	rs368687816		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	ENST00000399881.3	+	22	2509	c.2472C>T	c.(2470-2472)atC>atT	p.I824I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	824					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)		CCCTCACCATCGGATCCTTGC	0.512																																						uc010lvw.2																			0				ovary(1)	1						c.(2470-2472)ATC>ATT		potassium channel, subfamily U, member 1		C		0,4064		0,0,2032	87.0	89.0	88.0		2472	-5.9	0.0	8		88	1,8405		0,1,4202	no	coding-synonymous	KCNU1	NM_001031836.2		0,1,6234	TT,TC,CC		0.0119,0.0,0.0080		824/1150	36768588	1,12469	2032	4203	6235	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768588C>T	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.2472C>T	8.37:g.36768588C>T						KCNU1_uc003xjw.2_RNA	p.I824I	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2559	+			824			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.2472C>T	CCDS55220.1																																																																																				0.512	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ST18	9705	broad.mit.edu	37	8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	ENST00000276480.7	-	10	1101	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383																																						uc003xqz.2																			0				ovary(4)|skin(1)	5						c.(418-420)GTA>ATA		suppression of tumorigenicity 18							79.0	80.0	79.0					8																	53085003		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53085003C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.418G>A	8.37:g.53085003C>T	ENSP00000276480:p.Val140Ile					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN			5	574	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	140					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.418G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	2.870	-0.234274	0.05983	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45276	0.92;0.9	5.39	0.345	0.16011	.	0.820645	0.11278	N	0.580692	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.18713	-1.0328	10	0.56958	D	0.05	-0.2999	5.7594	0.18190	0.0:0.533:0.1235:0.3435	.	140	O60284	ST18_HUMAN	I	140	ENSP00000276480:V140I;ENSP00000428521:V140I	ENSP00000276480:V140I	V	-	1	0	ST18	53247556	0.620000	0.27068	0.000000	0.03702	0.136000	0.21042	0.478000	0.22212	0.029000	0.15352	-0.136000	0.14681	GTA		0.383	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
NSMAF	8439	broad.mit.edu	37	8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	ENST00000038176.3	-	3	397	c.185C>T	c.(184-186)tCg>tTg	p.S62L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S93L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	62					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323																																						uc003xtt.2																			0				ovary(1)	1						c.(184-186)TCG>TTG		neutral sphingomyelinase (N-SMase) activation							86.0	97.0	93.0					8																	59548070		2203	4298	6501	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59548070G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.185C>T	8.37:g.59548070G>A	ENSP00000038176:p.Ser62Leu					NSMAF_uc011lee.1_Missense_Mutation_p.S93L|NSMAF_uc003xtu.2_Missense_Mutation_p.S62L	p.S62L	NM_003580	NP_003571	Q92636	FAN_HUMAN			3	399	-		all_lung(136;0.174)|Lung NSC(129;0.2)	62					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.185C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581489	0.86748	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.62105	0.07;0.05	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.84846	2.72	0.47994	D	0.999563	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.995	D	0.83383	0.0013	9	.	.	.	.	17.3541	0.87331	0.0:0.0:1.0:0.0	.	93;62;62	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	L	62;93	ENSP00000038176:S62L;ENSP00000411012:S93L	.	S	-	2	0	NSMAF	59710624	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.754000	0.74909	2.525000	0.85131	0.585000	0.79938	TCG		0.323	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
SLCO5A1	81796	broad.mit.edu	37	8	70744273	70744273	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	ENST00000260126.4	-	2	1342	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000524945.1_Silent_p.F212F|SLCO5A1_ENST00000530307.1_Silent_p.F212F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGGTAAGGCGAAGAGGGCTG	0.662																																						uc003xyl.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(634-636)TTC>TTT		solute carrier organic anion transporter family,							21.0	25.0	24.0					8																	70744273		2202	4299	6501	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744273G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.636C>T	8.37:g.70744273G>A						SLCO5A1_uc010lzb.2_Silent_p.F212F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1343	-	Breast(64;0.0654)		212			Helical; Name=3; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.636C>T	CCDS6205.1																																																																																				0.662	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
ASAP1	50807	broad.mit.edu	37	8	131414154	131414154	+	Silent	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	ENST00000518721.1	-	2	263	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_ENST00000520625.1_5'UTR|ASAP1_ENST00000357668.1_Silent_p.S12S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	12					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502																																						uc003yta.1																			0				ovary(4)	4						c.(34-36)TCG>TCT		development and differentiation enhancing factor							77.0	75.0	75.0					8																	131414154		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131414154C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.36G>T	8.37:g.131414154C>A						ASAP1_uc011liw.1_5'UTR	p.S12S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			1	64	-			12					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.36G>T	CCDS6362.1																																																																																				0.502	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
SLC45A4	57210	broad.mit.edu	37	8	142231734	142231734	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	ENST00000024061.3	-	2	526	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_ENST00000517878.1_Silent_p.L124L|SLC45A4_ENST00000433583.2_Silent_p.L66L|SLC45A4_ENST00000519067.1_Silent_p.L73L	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612																																						uc003ywd.1																			0				ovary(2)	2						c.(217-219)CTC>CTT		solute carrier family 45, member 4							74.0	81.0	79.0					8																	142231734		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231734G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.219C>T	8.37:g.142231734G>A						SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	p.L73L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	527	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		124			Helical; (Potential).		Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.219C>T	CCDS34948.1																																																																																				0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
LRRC14	9684	broad.mit.edu	37	8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	ENST00000292524.1	+	4	1268	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_ENST00000529022.1_Missense_Mutation_p.E374D	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597																																						uc003zdk.1																			0					0						c.(1120-1122)GAG>GAC		leucine rich repeat containing 14							70.0	60.0	63.0					8																	145746502		2203	4299	6502	SO:0001583	missense	9684							g.chr8:145746502G>C	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1122G>C	8.37:g.145746502G>C	ENSP00000292524:p.Glu374Asp					LRRC14_uc003zdl.1_Missense_Mutation_p.E374D|LRRC14_uc003zdo.2_5'Flank	p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1268	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		374			LRR 4.		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1122G>C	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744199	0.30865	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.51325	0.71;0.71	4.69	2.88	0.33553	.	0.119627	0.56097	D	0.000028	T	0.42698	0.1214	L	0.38838	1.175	0.31169	N	0.703419	D	0.62365	0.991	P	0.53593	0.73	T	0.41574	-0.9501	10	0.15066	T	0.55	.	7.9078	0.29771	0.091:0.1633:0.7457:0.0	.	374	Q15048	LRC14_HUMAN	D	374	ENSP00000434768:E374D;ENSP00000292524:E374D	ENSP00000292524:E374D	E	+	3	2	LRRC14	145717310	1.000000	0.71417	0.560000	0.28344	0.017000	0.09413	1.403000	0.34612	0.577000	0.29470	0.563000	0.77884	GAG		0.597	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000376986.1_Missense_Mutation_p.P371L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L|GDA_ENST00000545168.1_Missense_Mutation_p.P375L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443																																						uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1345-1347)CCG>CTG		guanine deaminase							121.0	121.0	121.0					9																	74863239		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74863239C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1346C>T	9.37:g.74863239C>T	ENSP00000351170:p.Pro449Leu					GDA_uc011lse.1_Missense_Mutation_p.P375L|GDA_uc011lsf.1_Missense_Mutation_p.P375L|GDA_uc004air.2_Missense_Mutation_p.P449L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.P371L	p.P449L	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	14	1529	+		Myeloproliferative disorder(762;0.0122)	449					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1346C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777760	0.90195	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.979;0.997;0.996	B;P;P	0.54312	0.406;0.748;0.565	T	0.61342	-0.7082	9	0.32370	T	0.25	-15.3957	17.0254	0.86444	0.0:1.0:0.0:0.0	.	371;449;449	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	L	375;449;388;371;449;157	.	ENSP00000238018:P449L	P	+	2	0	GDA	74053059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.043000	0.71004	2.756000	0.94617	0.563000	0.77884	CCG		0.443	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
OR13C3	138803	broad.mit.edu	37	9	107298585	107298585	+	Silent	SNP	C	C	T	rs200973865		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	ENST00000374781.2	-	1	552	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				pancreas(1)	1						c.(508-510)GCG>GCA		olfactory receptor, family 13, subfamily C,							184.0	172.0	176.0					9																	107298585		2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298585C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.510G>A	9.37:g.107298585C>T							p.A170A	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	510	-			170			Helical; Name=4; (Potential).		Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.510G>A	CCDS35089.1																																																																																				0.468	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
FIGF	2277	broad.mit.edu	37	X	15364311	15364311	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	ENST00000297904.3	-	7	1438	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478																																						uc004cwt.1																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1009-1011)CGC>TGC		vascular endothelial growth factor D							105.0	93.0	97.0					X																	15364311		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15364311G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.1009C>T	X.37:g.15364311G>A	ENSP00000297904:p.Arg337Cys						p.R337C	NM_004469	NP_004460	O43915	VEGFD_HUMAN			7	1518	-	Hepatocellular(33;0.183)		337					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.1009C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849960	0.17034	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.65	2.87	0.33458	.	0.291863	0.30252	N	0.010043	T	0.41949	0.1181	L	0.27053	0.805	0.42745	D	0.993753	B	0.17465	0.022	B	0.12156	0.007	T	0.25152	-1.0140	9	0.87932	D	0	-12.615	8.5586	0.33496	0.1287:0.127:0.7443:0.0	.	337	O43915	VEGFD_HUMAN	C	337	.	ENSP00000297904:R337C	R	-	1	0	FIGF	15274232	0.998000	0.40836	0.746000	0.31095	0.040000	0.13550	1.423000	0.34837	0.236000	0.21180	-0.229000	0.12294	CGC		0.478	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
PTCHD1	139411	broad.mit.edu	37	X	23397772	23397772	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	ENST00000379361.4	+	2	1276	c.416T>C	c.(415-417)aTa>aCa	p.I139T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	139					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433																																						uc004dal.3																			0				ovary(4)|kidney(1)|skin(1)	6						c.(415-417)ATA>ACA		patched domain containing 1							82.0	75.0	77.0					X																	23397772		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397772T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.416T>C	X.37:g.23397772T>C	ENSP00000368666:p.Ile139Thr					PTCHD1_uc010nfu.1_Missense_Mutation_p.I139T	p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	424	+			139					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.416T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893923	0.52121	.	.	ENSG00000165186	ENST00000379361	D	0.85411	-1.98	5.06	5.06	0.68205	.	0.055638	0.64402	D	0.000001	D	0.83764	0.5325	N	0.19112	0.55	0.42909	D	0.994253	D;B	0.62365	0.991;0.013	P;B	0.56434	0.798;0.063	D	0.86482	0.1792	10	0.66056	D	0.02	.	14.1349	0.65281	0.0:0.0:0.0:1.0	.	34;139	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	T	139	ENSP00000368666:I139T	ENSP00000368666:I139T	I	+	2	0	PTCHD1	23307693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.450000	0.80656	1.983000	0.57843	0.486000	0.48141	ATA		0.433	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
CYBB	1536	broad.mit.edu	37	X	37665738	37665738	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	ENST00000378588.4	+	11	1480	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_ENST00000536160.1_Silent_p.A204A|CYBB_ENST00000545017.1_Silent_p.A439A|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	471					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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAACAATGCCGGCTTCCTCA	0.527																																						uc004ddr.2																			0				central_nervous_system(1)|skin(1)	2						c.(1411-1413)GCC>GCT		cytochrome b-245 beta polypeptide							112.0	87.0	96.0					X																	37665738		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37665738C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1413C>T	X.37:g.37665738C>T						CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	p.A471A	NM_000397	NP_000388	P04839	CY24B_HUMAN			11	1474	+			471			Cytoplasmic (Potential).		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1413C>T	CCDS14242.1																																																																																				0.527	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
PAGE1	8712	broad.mit.edu	37	X	49455937	49455937	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	ENST00000376150.3	-	4	339	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	69					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438																																						uc004dom.2																			0				skin(1)	1						c.(205-207)CCA>CCG		P antigen family, member 1							113.0	90.0	98.0					X																	49455937		2203	4300	6503	SO:0001819	synonymous_variant	8712				cellular defense response			g.chrX:49455937T>C	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.207A>G	X.37:g.49455937T>C							p.P69P	NM_003785	NP_003776	O75459	GAGB1_HUMAN			4	340	-	Ovarian(276;0.236)		69					Q6FGM3|Q9BSS7	Silent	SNP	ENST00000376150.3	37	c.207A>G	CCDS14327.1																																																																																				0.438	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		
FOXR2	139628	broad.mit.edu	37	X	55650496	55650496	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	ENST00000339140.3	+	1	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527																																						uc004duo.2																			0				lung(2)|central_nervous_system(1)	3						c.(352-354)GAA>AAA		forkhead box R2							65.0	60.0	62.0					X																	55650496		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650496G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.352G>A	X.37:g.55650496G>A	ENSP00000427329:p.Glu118Lys						p.E118K	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	664	+			118						Missense_Mutation	SNP	ENST00000339140.3	37	c.352G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	9.002	0.980300	0.18812	.	.	ENSG00000189299	ENST00000339140	D	0.94232	-3.38	3.1	0.623	0.17654	.	1.538560	0.04286	N	0.344718	D	0.86230	0.5883	L	0.37850	1.14	0.09310	N	1	P	0.44986	0.847	B	0.30105	0.111	T	0.77789	-0.2456	10	0.44086	T	0.13	.	5.1075	0.14793	0.3892:0.0:0.6108:0.0	.	118	Q6PJQ5	FOXR2_HUMAN	K	118	ENSP00000427329:E118K	ENSP00000427329:E118K	E	+	1	0	FOXR2	55667221	0.272000	0.24172	0.000000	0.03702	0.007000	0.05969	0.556000	0.23438	0.035000	0.15519	0.600000	0.82982	GAA		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
SLC7A3	84889	broad.mit.edu	37	X	70148360	70148360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	ENST00000374299.3	-	4	797	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K218R			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	218					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507																																						uc004dyn.2																			0				ovary(1)|kidney(1)	2						c.(652-654)AAG>AGG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						75.0	52.0	60.0					X																	70148360		2203	4299	6502	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148360T>C	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.653A>G	X.37:g.70148360T>C	ENSP00000363417:p.Lys218Arg					SLC7A3_uc004dyo.2_Missense_Mutation_p.K218R	p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			4	811	-	Renal(35;0.156)		218			Extracellular (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.653A>G	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254510	0.39896	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89810	-2.57;-2.57	4.95	-2.25	0.06888	Amino acid permease domain (1);	0.624877	0.18233	N	0.147508	T	0.80460	0.4627	L	0.52823	1.66	0.23421	N	0.997715	B	0.06786	0.001	B	0.12837	0.008	T	0.65327	-0.6195	10	0.42905	T	0.14	.	1.0724	0.01624	0.1338:0.2403:0.2712:0.3547	.	218	Q8WY07	CTR3_HUMAN	R	218	ENSP00000363417:K218R;ENSP00000298085:K218R	ENSP00000298085:K218R	K	-	2	0	SLC7A3	70065085	0.984000	0.35163	0.917000	0.36280	0.969000	0.65631	0.892000	0.28322	-0.732000	0.04856	0.356000	0.21956	AAG		0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T	rs369311059		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547																																						uc004edc.1																			0				ovary(1)	1						c.(1312-1314)CGT>CAT		zinc finger, CCHC domain containing 5		C	HIS/ARG	2,3833		0,2,1630,571	136.0	103.0	114.0		1313	-2.2	0.0	X		114	0,6728		0,0,2428,1872	no	missense	ZCCHC5	NM_152694.2	29	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign	438/476	77912605	2,10561	2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912605C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1313G>A	X.37:g.77912605C>T	ENSP00000316794:p.Arg438His						p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1609	-			438					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1313G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298223	0.01364	5.22E-4	0.0	ENSG00000179300	ENST00000321110	T	0.25749	1.78	3.2	-2.2	0.06994	.	.	.	.	.	T	0.16385	0.0394	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.44086	T	0.13	.	8.1248	0.30992	0.0:0.4658:0.0:0.5342	.	438	Q8N8U3	ZCHC5_HUMAN	H	438	ENSP00000316794:R438H	ENSP00000316794:R438H	R	-	2	0	ZCCHC5	77799261	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.973000	0.03798	-0.802000	0.04421	-1.585000	0.00851	CGT		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
RNF113A	7737	broad.mit.edu	37	X	119005259	119005259	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	ENST00000371442.2	-	1	532	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	106							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552																																						uc004esb.2																			0				breast(2)	2						c.(316-318)GCG>GCA		ring finger protein 113A							170.0	171.0	171.0					X																	119005259		2203	4300	6503	SO:0001819	synonymous_variant	7737						nucleic acid binding|zinc ion binding	g.chrX:119005259C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.318G>A	X.37:g.119005259C>T						NDUFA1_uc004esc.3_5'Flank	p.A106A	NM_006978	NP_008909	O15541	R113A_HUMAN			1	533	-			106					B2RBR7	Silent	SNP	ENST00000371442.2	37	c.318G>A	CCDS14589.1																																																																																				0.552	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978	
ENOX2	10495	broad.mit.edu	37	X	129759313	129759313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	ENST00000370927.1	-	13	1829	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_ENST00000370935.1_Missense_Mutation_p.G574V|ENOX2_ENST00000394363.1_Missense_Mutation_p.G574V|ENOX2_ENST00000338144.3_Missense_Mutation_p.G603V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	603					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			0				ovary(1)	1						c.(1807-1809)GGC>GTC		ecto-NOX disulfide-thiol exchanger 2 isoform b							123.0	98.0	106.0					X																	129759313		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759313C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1808G>T	X.37:g.129759313C>A	ENSP00000359965:p.Gly603Val					ENOX2_uc004evx.2_Missense_Mutation_p.G574V|ENOX2_uc004evy.2_Missense_Mutation_p.G574V|ENOX2_uc004evv.2_Missense_Mutation_p.G428V	p.G603V	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			16	2226	-			603					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1808G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008072	0.75046	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.65498	2.005	0.80722	D	1	D;D	0.69078	0.982;0.997	P;D	0.63283	0.856;0.913	T	0.73855	-0.3851	9	0.87932	D	0	-10.5608	12.5197	0.56052	0.0:1.0:0.0:0.0	.	603;631	Q16206;A4QPE1	ENOX2_HUMAN;.	V	574;603;574;631;603	.	ENSP00000337146:G603V	G	-	2	0	ENOX2	129586994	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGC		0.438	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
SLITRK2	84631	broad.mit.edu	37	X	144904765	144904765	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	ENST00000370490.1	+	1	5077	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_ENST00000434188.2_Silent_p.R274R|SLITRK2_ENST00000413937.2_Silent_p.R274R|SLITRK2_ENST00000447897.2_Silent_p.R274R|SLITRK2_ENST00000428560.2_Silent_p.R274R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	274					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557																																						uc004fcd.2																			0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(820-822)AGG>AGA		SLIT and NTRK-like family, member 2 precursor							84.0	78.0	80.0					X																	144904765		2202	4300	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904765G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.822G>A	X.37:g.144904765G>A						SLITRK2_uc010nsp.2_Silent_p.R274R|SLITRK2_uc010nso.2_Silent_p.R274R|SLITRK2_uc011mwq.1_Silent_p.R274R|SLITRK2_uc011mwr.1_Silent_p.R274R|SLITRK2_uc011mws.1_Silent_p.R274R|SLITRK2_uc004fcg.2_Silent_p.R274R|SLITRK2_uc011mwt.1_Silent_p.R274R	p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1812	+	Acute lymphoblastic leukemia(192;6.56e-05)		274			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.822G>A	CCDS14680.1																																																																																				0.557	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
MTM1	4534	broad.mit.edu	37	X	149832009	149832009	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	ENST00000370396.2	+	14	1625	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P409L|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.P487L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	524	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358																																						uc004fef.3																			0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(1570-1572)CCA>CTA		myotubularin							84.0	73.0	77.0					X																	149832009		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832009C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1571C>T	X.37:g.149832009C>T	ENSP00000359423:p.Pro524Leu					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.P487L|MTM1_uc011mxz.1_Missense_Mutation_p.P409L|MTM1_uc010nte.2_Missense_Mutation_p.P392L	p.P524L	NM_000252	NP_000243	Q13496	MTM1_HUMAN			14	1647	+	Acute lymphoblastic leukemia(192;6.56e-05)		524			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1571C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781396	0.90282	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.91351	-2.83;-2.83;-2.83	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.95850	3.73	0.80722	D	1	P;D	0.89917	0.844;1.0	P;D	0.91635	0.566;0.999	D	0.98433	1.0583	10	0.87932	D	0	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	487;524	B7Z491;Q13496	.;MTM1_HUMAN	L	524;409;487	ENSP00000359423:P524L;ENSP00000439784:P409L;ENSP00000389157:P487L	ENSP00000359423:P524L	P	+	2	0	MTM1	149582667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.242000	0.73789	0.513000	0.50165	CCA		0.358	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
HCFC1	3054	broad.mit.edu	37	X	153229664	153229664	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	ENST00000310441.7	-	3	1380	c.414C>A	c.(412-414)ctC>ctA	p.L138L	HCFC1_ENST00000369984.4_Silent_p.L138L|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.L138L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	138					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562																																						uc004fjp.2																			0				ovary(2)	2						c.(412-414)CTC>CTA		host cell factor 1							148.0	156.0	153.0					X																	153229664		1937	4121	6058	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229664G>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.414C>A	X.37:g.153229664G>T							p.L138L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			3	942	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138			Kelch 2.		Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.414C>A	CCDS44020.1																																																																																				0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
