#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCR6	1235	broad.mit.edu	37	6	167550390	167550390	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:167550390T>A	ENST00000341935.5	+	3	1224	c.672T>A	c.(670-672)ttT>ttA	p.F224L	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L|CCR6_ENST00000349984.4_Missense_Mutation_p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	224					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTGGTTTCTTTATCCCTTTGA	0.458																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(670-672)ttT>ttA		chemokine (C-C motif) receptor 6							133.0	114.0	121.0					6																	167550390		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550390T>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.672T>A	6.37:g.167550390T>A	ENSP00000343952:p.Phe224Leu					CCR6_ENST00000349984.4_Missense_Mutation_p.F224L|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L	p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1224	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	224					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.672T>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	1.964	-0.438207	0.04636	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.70164	-0.46;-0.46;-0.46	5.09	-3.98	0.04082	GPCR, rhodopsin-like superfamily (1);	0.238139	0.34906	U	0.003584	T	0.30135	0.0755	L	0.31664	0.95	0.40914	D	0.98425	B	0.23806	0.091	B	0.35688	0.208	T	0.07635	-1.0762	10	0.14252	T	0.57	.	8.1853	0.31335	0.0:0.1683:0.1364:0.6953	.	224	P51684	CCR6_HUMAN	L	224	ENSP00000383715:F224L;ENSP00000343952:F224L;ENSP00000339393:F224L	ENSP00000343952:F224L	F	+	3	2	CCR6	167470380	0.083000	0.21467	0.202000	0.23494	0.042000	0.13812	-0.181000	0.09740	-0.638000	0.05509	-0.904000	0.02843	TTT		0.458	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			4	198	0	0	0	1	0	4	198				
SF3B1	23451	broad.mit.edu	37	2	198267533	198267533	+	Silent	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198267533A>C	ENST00000335508.6	-	14	1915	c.1824T>G	c.(1822-1824)acT>acG	p.T608T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	608					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGAGATCATAGTAGCCAGAC	0.398			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1822-1824)acT>acG		splicing factor 3b, subunit 1, 155kDa							66.0	65.0	66.0					2																	198267533		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267533A>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1824T>G	2.37:g.198267533A>C							p.T608T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1915	-			608					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.1824T>G	CCDS33356.1																																																																																				0.398	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			5	128	0	0	0	1	0	5	128				
RAB3IP	117177	broad.mit.edu	37	12	70194027	70194027	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:70194027G>A	ENST00000247833.7	+	7	1303	c.927G>A	c.(925-927)aaG>aaA	p.K309K	RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000550536.1_Silent_p.K325K|RAB3IP_ENST00000550847.1_Silent_p.K16K|AC025263.3_ENST00000550437.1_5'Flank|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000553099.1_Silent_p.K103K|RAB3IP_ENST00000551641.1_Silent_p.K103K					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GATTGTGGAAGGATGAGCCCA	0.343																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(973-975)aaG>aaA		RAB3A interacting protein							115.0	106.0	109.0					12																	70194027		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70194027G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.927G>A	12.37:g.70194027G>A						RAB3IP_ENST00000247833.7_Silent_p.K309K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000553099.1_Silent_p.K103K	p.K325K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1432	+	Esophageal squamous(21;0.187)		325						Silent	SNP	ENST00000247833.7	37	c.975G>A	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.766|7.766	0.706448|0.706448	0.15239|0.15239	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000550647|ENST00000526994	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	T|T	0.64394|0.64394	0.2594|0.2594	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62393|0.62393	-0.6864|-0.6864	4|4	.|.	.|.	.|.	.|.	12.447|12.447	0.55657|0.55657	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	.|.	.|.	.|.	R|K	199|41	.|.	.|.	G|R	+|+	1|2	0|0	RAB3IP|RAB3IP	68480294|68480294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	4.335000|4.335000	0.59298|0.59298	2.520000|2.520000	0.84964|0.84964	0.305000|0.305000	0.20034|0.20034	GGA|AGG		0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		36	80	0	0	0	1	0	36	80				
NGEF	25791	broad.mit.edu	37	2	233791769	233791769	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:233791769G>A	ENST00000264051.3	-	4	789	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	NGEF_ENST00000409079.1_Missense_Mutation_p.L79F|NGEF_ENST00000373552.4_Missense_Mutation_p.L79F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	171	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				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)		TGTTCAATGAGGTTTCTCCAG	0.637																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(511-513)Ctc>Ttc		neuronal guanine nucleotide exchange factor							51.0	53.0	52.0					2																	233791769		2202	4300	6502	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.chr2:233791769G>A	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.511C>T	2.37:g.233791769G>A	ENSP00000264051:p.Leu171Phe					NGEF_ENST00000409079.1_Missense_Mutation_p.L79F|NGEF_ENST00000373552.4_Missense_Mutation_p.L79F	p.L171F	NM_019850.2	NP_062824.2	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)	4	789	-		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)	171			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.511C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042799	0.36085	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.74002	-0.8;-0.75	4.84	3.74	0.42951	.	0.205916	0.33591	N	0.004744	T	0.59569	0.2203	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15141	0.002;0.009;0.012	B;B;B	0.12156	0.004;0.007;0.006	T	0.57688	-0.7768	10	0.39692	T	0.17	-30.2539	10.0823	0.42397	0.1654:0.0:0.8346:0.0	.	79;79;171	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	F	171;79;61;79	ENSP00000264051:L171F;ENSP00000362653:L79F	ENSP00000264051:L171F	L	-	1	0	NGEF	233500013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.899000	0.48679	2.240000	0.73641	0.655000	0.94253	CTC		0.637	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		37	66	0	0	0	1	0	37	66				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	5	113	0	0	0	1	0	5	113				
SSH1	54434	broad.mit.edu	37	12	109186453	109186453	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:109186453G>C	ENST00000326495.5	-	14	1595	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R	SSH1_ENST00000326470.5_Missense_Mutation_p.P512R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R|SSH1_ENST00000551165.1_Missense_Mutation_p.P501R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	501					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTAAGCCGGGCTGGGCGGC	0.642																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1501-1503)cCc>cGc		slingshot protein phosphatase 1							26.0	31.0	29.0					12																	109186453		2200	4296	6496	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186453G>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1502C>G	12.37:g.109186453G>C	ENSP00000315713:p.Pro501Arg					SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R	p.P501R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			14	1595	-			501					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1502C>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	g	10.91	1.485342	0.26686	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.12984	2.84;2.71;2.66;2.63	5.06	3.21	0.36854	.	1.144660	0.06533	N	0.741765	T	0.14013	0.0339	L	0.56769	1.78	0.09310	N	1	B;B;B;P	0.38597	0.012;0.006;0.065;0.639	B;B;B;B	0.30029	0.009;0.016;0.017;0.11	T	0.28427	-1.0044	10	0.36615	T	0.2	-7.8442	8.4109	0.32642	0.0826:0.1546:0.7628:0.0	.	512;501;501;189	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	R	189;501;501;512	ENSP00000353374:P189R;ENSP00000315713:P501R;ENSP00000448824:P501R;ENSP00000326107:P512R	ENSP00000326107:P512R	P	-	2	0	SSH1	107710582	0.549000	0.26481	0.189000	0.23252	0.004000	0.04260	2.777000	0.47717	0.649000	0.30751	0.651000	0.88453	CCC		0.642	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		5	114	0	0	0	1	0	5	114				
DUSP22	56940	broad.mit.edu	37	6	348207	348207	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348207C>G	ENST00000344450.5	+	6	811	c.368C>G	c.(367-369)tCc>tGc	p.S123C	DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000604971.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(58-60)tCc>tGc		dual specificity phosphatase 22							149.0	133.0	138.0					6																	348207		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348207C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.368C>G	6.37:g.348207C>G	ENSP00000345281:p.Ser123Cys					DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C	p.S20C			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1172	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	123					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.59C>G	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.219676|5.219676	0.95139|0.95139	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|T	.|0.61158	.|0.13	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.071811	.|0.64402	.|D	.|0.000012	T|T	0.79009|0.79009	0.4374|0.4374	M|M	0.90145|0.90145	3.09|3.09	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D	.|0.76494	.|0.996;0.999;0.999	.|P;D;D	.|0.70227	.|0.852;0.968;0.968	T|T	0.82172|0.82172	-0.0589|-0.0589	5|10	.|0.72032	.|D	.|0.01	.|.	20.0852|20.0852	0.97797|0.97797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|123;80;123	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	M|C	60|123	.|ENSP00000345281:S123C	.|ENSP00000345281:S123C	I|S	+|+	3|2	3|0	DUSP22|DUSP22	293207|293207	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.982000|0.982000	0.71751|0.71751	7.770000|7.770000	0.85390|0.85390	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	ATC|TCC		0.577	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		11	267	0	0	0	1	0	11	267				
HIST1H2BI	8346	broad.mit.edu	37	6	26273310	26273310	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:26273310A>C	ENST00000377733.2	+	1	167	c.107A>C	c.(106-108)gAg>gCg	p.E36A	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	36					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGCCGCAAGGAGAGCTATTCC	0.577																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(106-108)gAg>gCg		histone cluster 1, H2bi							225.0	209.0	215.0					6																	26273310		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273310A>C	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.107A>C	6.37:g.26273310A>C	ENSP00000366962:p.Glu36Ala						p.E36A	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	167	+			36					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.107A>C	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804824	0.70682	.	.	ENSG00000168242	ENST00000377733	T	0.23552	1.9	4.5	4.5	0.54988	.	.	.	.	.	T	0.54549	0.1865	H	0.98111	4.15	0.31573	N	0.65605	.	.	.	.	.	.	T	0.69091	-0.5237	7	0.66056	D	0.02	.	12.6757	0.56893	1.0:0.0:0.0:0.0	.	.	.	.	A	36	ENSP00000366962:E36A	ENSP00000366962:E36A	E	+	2	0	HIST1H2BI	26381289	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.100000	0.71473	1.674000	0.50907	0.460000	0.39030	GAG		0.577	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		23	518	0	0	0	1	0	23	518				
BNIP3	664	broad.mit.edu	37	10	133787409	133787409	+	Missense_Mutation	SNP	C	C	T	rs201439592		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:133787409C>T	ENST00000368636.4	-	2	209	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	BNIP3_ENST00000540159.1_Missense_Mutation_p.G29R	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	29					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACGCTGCCCCCGTTCCCATTA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19971	0.001		0.0	False		,,,				2504	0.0					ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(85-87)Ggg>Agg		BCL2/adenovirus E1B 19kDa interacting protein 3							73.0	73.0	73.0					10																	133787409		2203	4300	6503	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133787409C>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.85G>A	10.37:g.133787409C>T	ENSP00000357625:p.Gly29Arg					BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R	p.G29R			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	201	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	29					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.85G>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448128	0.26074	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.89	2.98	0.34508	.	0.501656	0.21357	N	0.075865	T	0.33527	0.0866	L	0.41906	1.305	0.23542	N	0.997458	D	0.64830	0.994	P	0.52627	0.704	T	0.09530	-1.0670	9	0.18276	T	0.48	-28.106	6.7076	0.23260	0.1747:0.731:0.0:0.0943	.	29	Q12983	BNIP3_HUMAN	R	29	.	ENSP00000357625:G29R	G	-	1	0	BNIP3	133637399	0.040000	0.19996	0.011000	0.14972	0.012000	0.07955	1.308000	0.33528	0.933000	0.37291	0.655000	0.94253	GGG		0.507	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			12	254	0	0	0	1	0	12	254				
ASXL3	80816	broad.mit.edu	37	18	31326457	31326457	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:31326457C>T	ENST00000269197.5	+	12	6645	c.6645C>T	c.(6643-6645)tgC>tgT	p.C2215C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCTCTTGCCGGCTGAAAG	0.512																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(6643-6645)tgC>tgT		additional sex combs like 3 (Drosophila)							88.0	91.0	90.0					18																	31326457		1992	4179	6171	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326457C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6645C>T	18.37:g.31326457C>T							p.C2215C	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	6645	+			2215					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.6645C>T	CCDS45847.1																																																																																				0.512	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			5	146	0	0	0	1	0	5	146				
DACT1	51339	broad.mit.edu	37	14	59113311	59113311	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:59113311C>T	ENST00000335867.4	+	4	1994	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V|DACT1_ENST00000395153.3_Missense_Mutation_p.A620V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	657					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGGAGCAGGGCGCATGGCCAC	0.692																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1858-1860)gCg>gTg		dishevelled-binding antagonist of beta-catenin 1							8.0	7.0	7.0					14																	59113311		2174	4237	6411	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113311C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1970C>T	14.37:g.59113311C>T	ENSP00000337439:p.Ala657Val					DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000395151.3_Missense_Mutation_p.A376V	p.A620V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2006	+			657					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1859C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	4.955	0.177487	0.09443	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.32	2.01	0.26516	.	0.834161	0.10723	N	0.641527	T	0.38427	0.1040	M	0.64404	1.975	0.09310	N	1	P;P	0.40931	0.733;0.733	B;B	0.28465	0.09;0.057	T	0.14727	-1.0462	10	0.39692	T	0.17	-1.9113	9.8845	0.41253	0.0:0.7336:0.1184:0.1479	.	620;657	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	376;376;620;657;376	ENSP00000451598:A376V;ENSP00000378581:A376V;ENSP00000378582:A620V;ENSP00000337439:A657V;ENSP00000442850:A376V	ENSP00000337439:A657V	A	+	2	0	DACT1	58183064	0.000000	0.05858	0.003000	0.11579	0.174000	0.22865	0.806000	0.27126	0.617000	0.30160	0.563000	0.77884	GCG		0.692	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		5	18	0	0	0	1	0	5	18				
ZSWIM5	57643	broad.mit.edu	37	1	45486434	45486434	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:45486434G>C	ENST00000359600.5	-	12	2681	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	826						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGCTTCCAGAATTGTTCGG	0.433																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2476-2478)Ctg>Gtg		zinc finger, SWIM-type containing 5							246.0	236.0	239.0					1																	45486434		1914	4129	6043	SO:0001583	missense	57643						zinc ion binding	g.chr1:45486434G>C	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2476C>G	1.37:g.45486434G>C	ENSP00000352614:p.Leu826Val						p.L826V	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			12	2681	-	Acute lymphoblastic leukemia(166;0.155)		826					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2476C>G	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242300	0.58995	.	.	ENSG00000162415	ENST00000359600	T	0.56776	0.44	5.21	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.62209	1.925	0.53688	D	0.999978	D	0.76494	0.999	D	0.72338	0.977	T	0.63457	-0.6633	10	0.44086	T	0.13	-7.9682	10.3454	0.43903	0.2172:0.0:0.7828:0.0	.	826	Q9P217	ZSWM5_HUMAN	V	826	ENSP00000352614:L826V	ENSP00000352614:L826V	L	-	1	2	ZSWIM5	45259021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.628000	0.54259	0.862000	0.35528	0.561000	0.74099	CTG		0.433	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		11	420	0	0	0	1	0	11	420				
KCNJ8	3764	broad.mit.edu	37	12	21919155	21919155	+	Silent	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:21919155A>T	ENST00000240662.2	-	3	1122	c.777T>A	c.(775-777)atT>atA	p.I259I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	259					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CCACCAGAAAAATGTTATTGC	0.493																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(775-777)atT>atA		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						80.0	76.0	77.0					12																	21919155		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919155A>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.777T>A	12.37:g.21919155A>T						RP11-59N23.1_ENST00000542489.1_RNA	p.I259I	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1122	-			259					O00657	Silent	SNP	ENST00000240662.2	37	c.777T>A	CCDS8692.1																																																																																				0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		24	68	0	0	0	1	0	24	68				
PPP1R3A	5506	broad.mit.edu	37	7	113517828	113517828	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr7:113517828A>G	ENST00000284601.3	-	4	3387	c.3319T>C	c.(3319-3321)Tgg>Cgg	p.W1107R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGATAGCCAGGACAATGAC	0.348																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3319-3321)Tgg>Cgg		protein phosphatase 1, regulatory subunit 3A							88.0	89.0	89.0					7																	113517828		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517828A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3319T>C	7.37:g.113517828A>G	ENSP00000284601:p.Trp1107Arg						p.W1107R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3387	-			1107					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3319T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170250	0.57584	.	.	ENSG00000154415	ENST00000284601	T	0.34072	1.38	5.85	5.85	0.93711	.	0.117279	0.36482	N	0.002571	T	0.60340	0.2261	M	0.71581	2.175	0.44417	D	0.997333	D	0.89917	1.0	D	0.73380	0.98	T	0.63963	-0.6518	10	0.87932	D	0	-4.1681	16.2378	0.82389	1.0:0.0:0.0:0.0	.	1107	Q16821	PPR3A_HUMAN	R	1107	ENSP00000284601:W1107R	ENSP00000284601:W1107R	W	-	1	0	PPP1R3A	113305064	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.120000	0.71596	2.228000	0.72767	0.528000	0.53228	TGG		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	238	0	0	0	1	0	12	238				
TUBD1	51174	broad.mit.edu	37	17	57937725	57937725	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:57937725G>T	ENST00000592426.1	-	8	1320	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L|TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000325752.3_Missense_Mutation_p.F440L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F440F(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTAATGACGTGAAACTGTCTA	0.318																																						ENST00000325752.3																			1	Substitution - coding silent(1)	p.F440F(1)	lung(1)	NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1318-1320)ttC>ttA		tubulin, delta 1							115.0	116.0	116.0					17																	57937725		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57937725G>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1320C>A	17.37:g.57937725G>T	ENSP00000468518:p.Phe440Leu					TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L	p.F440L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		9	1597	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		440					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.1320C>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796107	0.70567	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T;T	0.80738	-1.14;-0.86;-1.41;-0.95;-0.91	5.82	3.46	0.39613	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.84683	2.71	0.47698	D	0.999494	D;D;D;D;D;P	0.67145	0.989;0.972;0.969;0.986;0.996;0.928	P;D;P;D;D;P	0.70227	0.851;0.924;0.742;0.968;0.919;0.742	D	0.85787	0.1365	10	0.30854	T	0.27	-17.4332	10.3328	0.43833	0.186:0.0:0.814:0.0	.	383;186;385;338;385;440	E9PCA7;Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;.;TBD_HUMAN	L	440;385;186;383;338;224	ENSP00000320797:F440L;ENSP00000342399:F385L;ENSP00000342561:F186L;ENSP00000377785:F383L;ENSP00000365262:F338L	ENSP00000320797:F440L	F	-	3	2	TUBD1	55292507	1.000000	0.71417	0.985000	0.45067	0.868000	0.49771	1.912000	0.39946	0.556000	0.29098	0.467000	0.42956	TTC		0.318	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		13	155	1	0	1.37285e-15	1	1.46707e-15	13	155				
SLK	9748	broad.mit.edu	37	10	105780333	105780333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:105780333C>T	ENST00000369755.3	+	17	3954	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1137					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTCAGTTGCAGTGTGAAGC	0.458																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3409-3411)Cag>Tag		STE20-like kinase							85.0	82.0	83.0					10																	105780333		2203	4300	6503	SO:0001587	stop_gained	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105780333C>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3409C>T	10.37:g.105780333C>T	ENSP00000358770:p.Gln1137*					SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	p.Q1137*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	3954	+		Colorectal(252;0.178)	1137					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	c.3409C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	45	11.779639	0.99602	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1138	0.93330	0.0:1.0:0.0:0.0	.	.	.	.	X	1106;1137	.	ENSP00000336824:Q1106X	Q	+	1	0	SLK	105770323	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.818000	0.86416	2.504000	0.84457	0.650000	0.86243	CAG		0.458	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		6	141	0	0	0	1	0	6	141				
ZFP82	284406	broad.mit.edu	37	19	36884065	36884065	+	Missense_Mutation	SNP	G	G	T	rs550683550		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:36884065G>T	ENST00000392161.3	-	5	1419	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTCGTAAGGTTTTTCACCA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22792	0.001		0.0	False		,,,				2504	0.0					ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1177-1179)Cct>Act		ZFP82 zinc finger protein							122.0	121.0	121.0					19																	36884065		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884065G>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1177C>A	19.37:g.36884065G>T	ENSP00000431265:p.Pro393Thr					ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1419	-			393					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1177C>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063941	0.55432	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.56275	0.47;0.47	4.53	4.53	0.55603	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.67636	0.2914	L	0.58810	1.83	0.36160	D	0.848036	D	0.76494	0.999	D	0.71870	0.975	T	0.76457	-0.2952	10	0.87932	D	0	.	14.8033	0.69932	0.0:0.0:1.0:0.0	.	393	Q8N141	ZFP82_HUMAN	T	393	ENSP00000431265:P393T;ENSP00000446080:P393T	ENSP00000431265:P393T	P	-	1	0	ZFP82	41575905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.430000	0.80321	2.352000	0.79861	0.591000	0.81541	CCT		0.388	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	169	1	0	0.00116845	1	0.00117926	6	169				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	83	0	0	0	1	0	4	83				
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:140230180G>C	ENST00000532602.1	+	1	3133	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L700L|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	700					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2098-2100)ctG>ctC									79.0	72.0	74.0					5																	140230180		2196	4272	6468	SO:0001819	synonymous_variant	0							g.chr5:140230180G>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2100G>C	5.37:g.140230180G>C						PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L	p.L700L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2824	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2100G>C	CCDS54920.1																																																																																				0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		66	177	0	0	0	1	0	66	177				
DCN	1634	broad.mit.edu	37	12	91545525	91545525	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:91545525G>C	ENST00000052754.5	-	7	1292	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.S117C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	264					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTGGCCAGAGAGCCATTGTC	0.478																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(790-792)tCt>tGt		decorin							129.0	101.0	111.0					12																	91545525		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91545525G>C	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.791C>G	12.37:g.91545525G>C	ENSP00000052754:p.Ser264Cys					DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C	p.S264C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			7	1292	-			264					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.791C>G	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041285	0.75732	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.58	4.67	0.58626	.	0.508219	0.22417	N	0.060336	T	0.72358	0.3450	L	0.53249	1.67	0.40987	D	0.984825	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.76454	-0.2953	10	0.87932	D	0	.	16.0838	0.81023	0.0:0.139:0.861:0.0	.	264;117;155	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	C	264;155;264;117;264;155;117;117	ENSP00000052754:S264C;ENSP00000228329:S155C;ENSP00000376862:S264C;ENSP00000401021:S117C;ENSP00000447654:S264C;ENSP00000413723:S155C;ENSP00000447674:S117C;ENSP00000446530:S117C	ENSP00000052754:S264C	S	-	2	0	DCN	90069656	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	5.504000	0.66968	1.454000	0.47793	0.591000	0.81541	TCT		0.478	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		31	55	0	0	0	1	0	31	55				
HKDC1	80201	broad.mit.edu	37	10	71008233	71008233	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:71008233T>A	ENST00000354624.5	+	10	1452	c.1319T>A	c.(1318-1320)gTc>gAc	p.V440D	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGCTGTGATGTCCGCTTCCTC	0.597																																						ENST00000354624.5																			1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1318-1320)gTc>gAc		hexokinase domain containing 1							56.0	56.0	56.0					10																	71008233		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008233T>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1319T>A	10.37:g.71008233T>A	ENSP00000346643:p.Val440Asp					HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D	p.V440D	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1452	+			440					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1319T>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.758077	0.89843	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97831	-4.56;-4.56	4.92	4.92	0.64577	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.93550	3.43	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.99597	1.0977	10	0.87932	D	0	-32.3789	14.7106	0.69229	0.0:0.0:0.0:1.0	.	440	Q2TB90	HKDC1_HUMAN	D	440	ENSP00000346643:V440D;ENSP00000378521:V440D	ENSP00000346643:V440D	V	+	2	0	HKDC1	70678239	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.831000	0.86748	2.061000	0.61500	0.460000	0.39030	GTC		0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		11	181	0	0	0	1	0	11	181				
MCF2L	23263	broad.mit.edu	37	13	113742083	113742083	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:113742083C>T	ENST00000375608.3	+	24	2806	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000375597.4_Silent_p.Y884Y|MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000397030.1_Silent_p.Y919Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	916	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGATCTGGTACAACGCGCGCG	0.572																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2755-2757)taC>taT		MCF.2 cell line derived transforming sequence-like							204.0	131.0	156.0					13																	113742083		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742083C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2748C>T	13.37:g.113742083C>T						MCF2L_ENST00000375597.4_Silent_p.Y884Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y	p.Y919Y			O15068	MCF2L_HUMAN			23	2794	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	916			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.2757C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.849|4.849	0.157831|0.157831	0.09236|0.09236	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297|ENST00000413354;ENST00000261963	.|.	.|.	.|.	4.96|4.96	1.36|1.36	0.22044|0.22044	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54464	.|0.1860	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45190	.|-0.9278	.|4	.|.	.|.	.|.	.|.	6.9911|6.9911	0.24755|0.24755	0.0:0.4921:0.0:0.5079|0.0:0.4921:0.0:0.5079	.|.	.|.	.|.	.|.	X|I	547;41|116;57	.|.	.|.	Q|T	+|+	1|2	0|0	MCF2L|MCF2L	112790084|112790084	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.448000|0.448000	0.32197|0.32197	1.441000|1.441000	0.35035|0.35035	0.380000|0.380000	0.24823|0.24823	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.572	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			15	52	0	0	0	1	0	15	52				
PALD1	27143	broad.mit.edu	37	10	72298051	72298051	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:72298051G>A	ENST00000263563.6	+	12	1607	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	447						cytosol (GO:0005829)											GCTGGCCTTTGCCCTCAGTTT	0.667																																						ENST00000263563.6																			0											c.(1339-1341)Gcc>Acc		phosphatase domain containing, paladin 1							55.0	47.0	50.0					10																	72298051		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72298051G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1339G>A	10.37:g.72298051G>A	ENSP00000263563:p.Ala447Thr						p.A447T	NM_014431.2	NP_055246.2					12	1607	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1339G>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.815057	0.90790	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.23552	1.9	4.31	4.31	0.51392	.	0.182499	0.47455	D	0.000232	T	0.37839	0.1018	M	0.76574	2.34	0.54753	D	0.999981	P	0.50443	0.935	P	0.47402	0.546	T	0.34354	-0.9832	10	0.36615	T	0.2	-25.6841	16.5809	0.84714	0.0:0.0:1.0:0.0	.	447	Q9ULE6	PALD_HUMAN	T	447	ENSP00000263563:A447T	ENSP00000263563:A447T	A	+	1	0	KIAA1274	71968057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.715000	0.74697	2.221000	0.72209	0.561000	0.74099	GCC		0.667	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		9	95	0	0	0	1	0	9	95				
RBM12B	389677	broad.mit.edu	37	8	94748551	94748551	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748551C>G	ENST00000399300.2	-	3	301	c.88G>C	c.(88-90)Gat>Cat	p.D30H	RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	30							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTCCTCCATCAGGAATAGTC	0.463																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(88-90)Gat>Cat		RNA binding motif protein 12B							75.0	75.0	75.0					8																	94748551		1842	4104	5946	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748551C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.88G>C	8.37:g.94748551C>G	ENSP00000382239:p.Asp30His					RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H|RBM12B_ENST00000520961.1_Intron	p.D30H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	301	-	Breast(36;4.14e-07)		30					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.88G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296212	0.60086	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.16073	3.08;3.08;2.37;2.37;3.08;3.08	5.8	5.8	0.92144	.	0.095631	0.45867	D	0.000334	T	0.44074	0.1276	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20907	-1.0261	10	0.72032	D	0.01	-29.1694	19.681	0.95964	0.0:1.0:0.0:0.0	.	30	Q8IXT5	RB12B_HUMAN	H	30	ENSP00000382239:D30H;ENSP00000427729:D30H;ENSP00000430474:D30H;ENSP00000428269:D30H;ENSP00000429807:D30H;ENSP00000430466:D30H	ENSP00000382239:D30H	D	-	1	0	RBM12B	94817727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.770000	0.68873	2.744000	0.94065	0.655000	0.94253	GAT		0.463	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	301	0	0	0	1	0	11	301				
SEC14L3	266629	broad.mit.edu	37	22	30866506	30866506	+	Missense_Mutation	SNP	G	G	A	rs116155456		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr22:30866506G>A	ENST00000215812.4	-	2	208	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame|SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000403066.1_De_novo_Start_OutOfFrame	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	40						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGGAGCCAGCGTAGAAGGAAA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20574	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19								SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)	G	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	119.0	102.0	108.0		118	5.4	1.0	22	dbSNP_132	108	0,8600		0,0,4300	yes	missense	SEC14L3	NM_174975.4	180	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	40/401	30866506	7,12999	2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866506G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.118C>T	22.37:g.30866506G>A	ENSP00000215812:p.Arg40Cys					SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame				Q9UDX4	S14L3_HUMAN			0	224	-								E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Translation_Start_Site	SNP	ENST00000215812.4	37		CCDS13877.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	23.1|23.1	4.371364|4.371364	0.82573|0.82573	0.001589|0.001589	0.0|0.0	ENSG00000100012|ENSG00000100012	ENST00000215812|ENST00000435069	D|.	0.95171|.	-3.63|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);|.	0.134031|.	0.47455|.	D|.	0.000235|.	D|D	0.87708|0.87708	0.6245|0.6245	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70487|.	0.969|.	D|D	0.91356|0.91356	0.5108|0.5108	10|5	0.66056|.	D|.	0.02|.	-17.4296|-17.4296	13.5497|13.5497	0.61726|0.61726	0.0:0.0:0.8435:0.1565|0.0:0.0:0.8435:0.1565	.|.	40|.	Q9UDX4|.	S14L3_HUMAN|.	C|M	40|20	ENSP00000215812:R40C|.	ENSP00000215812:R40C|.	R|T	-|-	1|2	0|0	SEC14L3|SEC14L3	29196506|29196506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.341000|5.341000	0.65964|0.65964	2.506000|2.506000	0.84524|0.84524	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.567	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		7	96	0	0	0	1	0	7	96				
NEK9	91754	broad.mit.edu	37	14	75553847	75553847	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:75553847C>T	ENST00000238616.5	-	21	2849	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V	NEK9_ENST00000555763.1_5'Flank	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	897					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCAACCTCCACCTGCAGAG	0.512																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2689-2691)gtG>gtA		NIMA-related kinase 9							106.0	96.0	99.0					14																	75553847		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75553847C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2691G>A	14.37:g.75553847C>T							p.V897V	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	21	2849	-			897					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2691G>A	CCDS9839.1																																																																																				0.512	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		72	170	0	0	0	1	0	72	170				
FFAR3	2865	broad.mit.edu	37	19	35850510	35850510	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:35850510C>T	ENST00000327809.4	+	2	919	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	FFAR3_ENST00000594310.1_Missense_Mutation_p.P240S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCTTTGGGCCCTACAACGT	0.642																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(718-720)Ccc>Tcc		free fatty acid receptor 3							152.0	115.0	128.0					19																	35850510		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850510C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.718C>T	19.37:g.35850510C>T	ENSP00000328230:p.Pro240Ser					FFAR3_ENST00000594310.1_Missense_Mutation_p.P240S	p.P240S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	919	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		240					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.718C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032525	0.75504	.	.	ENSG00000185897	ENST00000327809	T	0.80304	-1.36	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.91922	0.7442	M	0.92880	3.355	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.93794	0.7095	10	0.87932	D	0	-25.7523	16.0595	0.80830	0.0:1.0:0.0:0.0	.	240	O14843	FFAR3_HUMAN	S	240	ENSP00000328230:P240S	ENSP00000328230:P240S	P	+	1	0	FFAR3	40542350	1.000000	0.71417	0.994000	0.49952	0.497000	0.33675	7.795000	0.85887	2.385000	0.81259	0.455000	0.32223	CCC		0.642	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		5	321	0	0	0	1	0	5	321				
BCL11A	53335	broad.mit.edu	37	2	60688207	60688207	+	Missense_Mutation	SNP	A	A	G	rs147115751		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:60688207A>G	ENST00000335712.6	-	4	2067	c.1840T>C	c.(1840-1842)Tcg>Ccg	p.S614P	BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGCCCCCCGAGGCCGACTCG	0.667			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1840-1842)Tcg>Ccg		B-cell CLL/lymphoma 11A (zinc finger protein)							13.0	17.0	16.0					2																	60688207		2146	4226	6372	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688207A>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1840T>C	2.37:g.60688207A>G	ENSP00000338774:p.Ser614Pro					BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P	p.S614P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2067	-			614					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1840T>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	9.027	0.986308	0.18889	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09445	2.98;3.25;3.15;3.29;3.2	6.17	4.96	0.65561	.	0.426055	0.23552	N	0.046958	T	0.08980	0.0222	L	0.31065	0.9	0.54753	D	0.99998	B;B;B;B;B	0.14012	0.002;0.0;0.009;0.0;0.001	B;B;B;B;B	0.15870	0.005;0.0;0.014;0.002;0.002	T	0.22034	-1.0228	10	0.22109	T	0.4	-1.307	13.2634	0.60120	0.868:0.132:0.0:0.0	.	580;283;580;614;614	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	P	614;639;580;283;614;580	ENSP00000349300:S614P;ENSP00000438303:S580P;ENSP00000443712:S283P;ENSP00000338774:S614P;ENSP00000351307:S580P	ENSP00000338774:S614P	S	-	1	0	BCL11A	60541711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.774000	0.62339	2.371000	0.80710	0.533000	0.62120	TCG		0.667	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		25	42	0	0	0	1	0	25	42				
EYA1	2138	broad.mit.edu	37	8	72127635	72127635	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:72127635A>G	ENST00000340726.3	-	16	2223	c.1584T>C	c.(1582-1584)agT>agC	p.S528S	EYA1_ENST00000303824.7_Silent_p.S522S|EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000419131.1_Silent_p.S493S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	528					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTAGTTGCACTGTAAATAT	0.338																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1582-1584)agT>agC		eyes absent homolog 1 (Drosophila)							64.0	67.0	66.0					8																	72127635		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127635A>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1584T>C	8.37:g.72127635A>G						EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000419131.1_Silent_p.S493S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000303824.7_Silent_p.S522S	p.S528S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		16	2223	-	Breast(64;0.046)		528					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.1584T>C	CCDS34906.1																																																																																				0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		15	249	0	0	0	1	0	15	249				
HEPHL1	341208	broad.mit.edu	37	11	93797642	93797642	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:93797642A>G	ENST00000315765.9	+	4	782	c.774A>G	c.(772-774)aaA>aaG	p.K258K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	258	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGACAAGAAAGATGCTGTTT	0.383																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(772-774)aaA>aaG		hephaestin-like 1							115.0	103.0	106.0					11																	93797642		1870	4100	5970	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797642A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.774A>G	11.37:g.93797642A>G							p.K258K	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			4	782	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	258			Plastocyanin-like 2.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.774A>G	CCDS44710.1																																																																																				0.383	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		6	81	0	0	0	1	0	6	81				
ZNF184	7738	broad.mit.edu	37	6	27419434	27419434	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:27419434G>C	ENST00000211936.6	-	6	2188	c.1904C>G	c.(1903-1905)aCt>aGt	p.T635S	ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATG	0.423																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1903-1905)aCt>aGt		zinc finger protein 184							129.0	127.0	128.0					6																	27419434		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419434G>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1904C>G	6.37:g.27419434G>C	ENSP00000211936:p.Thr635Ser					ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2188	-			635					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1904C>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942748	0.53079	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.18	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.01695	0.0054	N	0.17594	0.5	0.29017	N	0.886501	B	0.27192	0.171	B	0.16289	0.015	T	0.40924	-0.9537	10	0.54805	T	0.06	.	6.2064	0.20606	0.1963:0.0:0.8037:0.0	.	635	Q99676	ZN184_HUMAN	S	635;635;551	ENSP00000211936:T635S;ENSP00000366636:T635S	ENSP00000211936:T635S	T	-	2	0	ZNF184	27527413	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.877000	0.28106	2.696000	0.92011	0.591000	0.81541	ACT		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		10	236	0	0	0	1	0	10	236				
ZNF622	90441	broad.mit.edu	37	5	16463248	16463248	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:16463248C>T	ENST00000308683.2	-	3	1144	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	340					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AATTCCAAAGCAGCATCGCCA	0.408																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1018-1020)Gct>Act		zinc finger protein 622							146.0	147.0	146.0					5																	16463248		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463248C>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1018G>A	5.37:g.16463248C>T	ENSP00000310042:p.Ala340Thr						p.A340T	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			3	1144	-			340						Missense_Mutation	SNP	ENST00000308683.2	37	c.1018G>A	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552762	0.86127	.	.	ENSG00000173545	ENST00000308683	T	0.42513	0.97	6.03	5.17	0.71159	.	0.094831	0.64402	D	0.000001	T	0.45478	0.1344	L	0.39245	1.2	0.80722	D	1	P	0.45283	0.855	P	0.50896	0.653	T	0.21314	-1.0249	10	0.14252	T	0.57	-1.2463	17.0607	0.86547	0.0:0.8654:0.1346:0.0	.	340	Q969S3	ZN622_HUMAN	T	340	ENSP00000310042:A340T	ENSP00000310042:A340T	A	-	1	0	ZNF622	16516248	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	6.085000	0.71343	1.554000	0.49487	0.655000	0.94253	GCT		0.408	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		6	394	0	0	0	1	0	6	394				
FAM171A1	221061	broad.mit.edu	37	10	15255635	15255635	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:15255635G>A	ENST00000378116.4	-	8	1958	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGTGCCCGCATCCTGCAG	0.622																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1951-1953)gCg>gTg		family with sequence similarity 171, member A1							46.0	53.0	51.0					10																	15255635		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255635G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1952C>T	10.37:g.15255635G>A	ENSP00000367356:p.Ala651Val						p.A651V	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1958	-			651					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.1952C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368571	0.24771	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.33654	1.4	5.25	4.35	0.52113	.	0.169721	0.52532	D	0.000078	T	0.29976	0.0750	L	0.44542	1.39	0.33872	D	0.635092	B	0.13594	0.008	B	0.08055	0.003	T	0.39210	-0.9625	10	0.62326	D	0.03	-6.6507	9.8	0.40759	0.0734:0.1391:0.7875:0.0	.	651	Q5VUB5	F1711_HUMAN	V	651;650	ENSP00000367356:A651V	ENSP00000367356:A651V	A	-	2	0	FAM171A1	15295641	0.666000	0.27475	0.012000	0.15200	0.228000	0.25075	3.096000	0.50243	1.441000	0.47550	0.563000	0.77884	GCG		0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	168	0	0	0	1	0	4	168				
RANBP2	5903	broad.mit.edu	37	2	109368336	109368336	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:109368336C>T	ENST00000283195.6	+	12	1767	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	547					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GACCTGGAAACGTAGCAAAAT	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1639-1641)aaC>aaT		RAN binding protein 2							93.0	115.0	107.0					2																	109368336		1509	2708	4217	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109368336C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1641C>T	2.37:g.109368336C>T							p.N547N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			12	1767	+			547					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1641C>T	CCDS2079.1																																																																																				0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		165	305	0	0	0	1	0	165	305				
CCRN4L	25819	broad.mit.edu	37	4	139966532	139966532	+	Silent	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:139966532T>A	ENST00000280614.2	+	3	1393	c.1200T>A	c.(1198-1200)atT>atA	p.I400I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	400					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AAGAACAGATTGGACCCAACA	0.453																																					Ovarian(144;566 1842 19130 21379 22209)	ENST00000280614.2																			0				kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1198-1200)atT>atA		CCR4 carbon catabolite repression 4-like (S. cerevisiae)							102.0	100.0	100.0					4																	139966532		2203	4300	6503	SO:0001819	synonymous_variant	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966532T>A	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1200T>A	4.37:g.139966532T>A						ELF2_ENST00000515489.1_Intron	p.I400I	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN			3	1393	+	all_hematologic(180;0.162)		400					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	c.1200T>A	CCDS3743.1																																																																																				0.453	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		4	216	0	0	0	1	0	4	216				
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39.0	44.0	42.0					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	42	0	0	0	1	0	3	42				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	108	0	0	0	1	0	60	108				
EVA1B	55194	broad.mit.edu	37	1	36788037	36788037	+	Silent	SNP	C	C	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:36788037C>A	ENST00000270824.1	-	3	648	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3D21_ENST00000474766.1_3'UTR|RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	119						integral component of membrane (GO:0016021)											GCGCCCGCTCCAGCTCCTCCG	0.741																																						ENST00000270824.1																			0											c.(355-357)ctG>ctT		eva-1 homolog B (C. elegans)							13.0	16.0	15.0					1																	36788037		2106	4138	6244	SO:0001819	synonymous_variant	55194							g.chr1:36788037C>A	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.357G>T	1.37:g.36788037C>A						EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.L119L	NM_018166.1	NP_060636.1					3	648	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.357G>T	CCDS406.1																																																																																				0.741	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		3	59	1	0	1	1	1	3	59				
CUL5	8065	broad.mit.edu	37	11	107944162	107944162	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:107944162T>C	ENST00000393094.2	+	10	1667	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	351					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTTAATAGATTTAGTAAACT	0.269																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1051-1053)Ttt>Ctt		cullin 5							33.0	36.0	35.0					11																	107944162		2199	4263	6462	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107944162T>C	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1051T>C	11.37:g.107944162T>C	ENSP00000376808:p.Phe351Leu					CUL5_ENST00000531843.1_3'UTR	p.F351L	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	10	1667	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	351					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1051T>C	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111532	0.94339	.	.	ENSG00000166266	ENST00000393094	T	0.31247	1.5	5.04	5.04	0.67666	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59247	-0.7490	10	0.72032	D	0.01	-12.1636	14.7723	0.69688	0.0:0.0:0.0:1.0	.	351	Q93034	CUL5_HUMAN	L	351	ENSP00000376808:F351L	ENSP00000376808:F351L	F	+	1	0	CUL5	107449372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	1.896000	0.54893	0.533000	0.62120	TTT		0.269	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			16	153	0	0	0	1	0	16	153				
CWC22	57703	broad.mit.edu	37	2	180810420	180810420	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810420T>C	ENST00000410053.3	-	20	2462	c.2163A>G	c.(2161-2163)ggA>ggG	p.G721G	CWC22_ENST00000295749.6_Silent_p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	721					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTCCCATGTCCCTTCTTTC	0.333																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2161-2163)ggA>ggG		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							55.0	50.0	52.0					2																	180810420		1843	4082	5925	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810420T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2163A>G	2.37:g.180810420T>C						CWC22_ENST00000295749.6_Silent_p.G721G	p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2462	-			721					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2163A>G	CCDS46465.1																																																																																				0.333	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		3	59	0	0	0	1	0	3	59				
DSCAM	1826	broad.mit.edu	37	21	42064859	42064859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr21:42064859G>A	ENST00000400454.1	-	3	862	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	129	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCACACGGACTGTATAG	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(385-387)Cgt>Tgt		Down syndrome cell adhesion molecule							115.0	113.0	113.0					21																	42064859		2012	4173	6185	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064859G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.385C>T	21.37:g.42064859G>A	ENSP00000383303:p.Arg129Cys						p.R129C	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			3	862	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	129			Ig-like C2-type 1.|Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.385C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365213	0.95877	.	.	ENSG00000171587	ENST00000400454	T	0.77750	-1.12	5.93	5.93	0.95920	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88966	0.3397	10	0.59425	D	0.04	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	129	O60469	DSCAM_HUMAN	C	129	ENSP00000383303:R129C	ENSP00000383303:R129C	R	-	1	0	DSCAM	40986729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.908000	0.87438	2.814000	0.96858	0.655000	0.94253	CGT		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	130	0	0	0	1	0	14	130				
SUB1	10923	broad.mit.edu	37	5	32601155	32601155	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:32601155A>G	ENST00000265073.4	+	5	477	c.349A>G	c.(349-351)Att>Gtt	p.I117V	SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	117					regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAAGGAACAGATTTCTGACAT	0.313																																						ENST00000265073.4																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-351)Att>Gtt		SUB1 homolog (S. cerevisiae)							67.0	70.0	69.0					5																	32601155		2202	4300	6502	SO:0001583	missense	10923				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity	g.chr5:32601155A>G	X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.349A>G	5.37:g.32601155A>G	ENSP00000265073:p.Ile117Val					SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V	p.I117V	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN			5	477	+			117					Q96L29	Missense_Mutation	SNP	ENST00000265073.4	37	c.349A>G	CCDS3897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.99|15.99	2.996420|2.996420	0.54147|0.54147	.|.	.|.	ENSG00000113387|ENSG00000113387	ENST00000542111|ENST00000506237;ENST00000512913;ENST00000265073;ENST00000515355;ENST00000502897	.|T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Transcriptional coactivator p15 (1);ssDNA-binding transcriptional regulator (2);	.|0.109899	.|0.64402	.|D	.|0.000002	.|T	.|0.44286	.|0.1286	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|B	.|0.27951	.|0.195	.|B	.|0.30316	.|0.114	.|T	.|0.28170	.|-1.0052	.|10	.|0.26408	.|T	.|0.33	.|.	16.2806|16.2806	0.82678|0.82678	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|117	.|P53999	.|TCP4_HUMAN	.|V	-1|117	.|ENSP00000422078:I117V;ENSP00000422806:I117V;ENSP00000265073:I117V;ENSP00000426850:I117V;ENSP00000427100:I117V	.|ENSP00000265073:I117V	.|I	+|+	.|1	.|0	SUB1|SUB1	32636912|32636912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.904000|8.904000	0.92590|0.92590	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	.|ATT		0.313	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253730.1	NM_006713		10	168	0	0	0	1	0	10	168				
MLLT4	4301	broad.mit.edu	37	6	168311815	168311815	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:168311815C>T	ENST00000447894.2	+	14	1804	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S|MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000366806.2_Missense_Mutation_p.P602S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	602					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGATACTACCTGCAAGCAT	0.368			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1804-1806)Cct>Tct		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							149.0	148.0	148.0					6																	168311815		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168311815C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1804C>T	6.37:g.168311815C>T	ENSP00000404595:p.Pro602Ser					MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S	p.P602S			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	14	1946	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	602					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.1804C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973720|3.973720	0.74246|0.74246	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.06068|.	3.53;3.54;3.53;3.53;3.35;3.42;3.42|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68357|0.68357	0.2992|0.2992	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999|.	T|T	0.72513|0.72513	-0.4270|-0.4270	10|5	0.87932|.	D|.	0|.	-21.5921|-21.5921	9.9085|9.9085	0.41390|0.41390	0.0:0.7864:0.139:0.0746|0.0:0.7864:0.139:0.0746	.|.	300;601;602;586|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	S|I	602;602;602;602;586;602;601;602|300	ENSP00000341118:P602S;ENSP00000252692:P602S;ENSP00000375956:P602S;ENSP00000355771:P602S;ENSP00000375960:P586S;ENSP00000383623:P601S;ENSP00000404595:P602S|.	ENSP00000345834:P602S|.	P|T	+|+	1|2	0|0	MLLT4|MLLT4	168054664|168054664	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.947000|0.947000	0.59692|0.59692	5.217000|5.217000	0.65252|0.65252	2.489000|2.489000	0.83994|0.83994	0.591000|0.591000	0.81541|0.81541	CCT|ACC		0.368	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		36	131	0	0	0	1	0	36	131				
CXorf40A	91966	broad.mit.edu	37	X	148627360	148627360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:148627360G>A	ENST00000441248.1	+	3	1771	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	62										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGAGACTCGGGATGACTCC	0.567																																						ENST00000441248.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(184-186)Ggg>Agg		chromosome X open reading frame 40A							61.0	31.0	41.0					X																	148627360		2203	4299	6502	SO:0001583	missense	91966						protein binding	g.chrX:148627360G>A	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.184G>A	X.37:g.148627360G>A	ENSP00000423099:p.Gly62Arg					CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R	p.G62R			Q8TE69	CX04A_HUMAN			3	1771	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		62					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.184G>A	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135239	0.09032	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	3.71	-0.307	0.12777	PUA-like domain (1);	0.104536	0.64402	D	0.000004	D	0.95037	0.8393	M	0.82923	2.615	0.09310	N	0.999994	B;B;D	0.89917	0.399;0.193;1.0	B;B;D	0.63703	0.073;0.047;0.917	D	0.89269	0.3603	10	0.87932	D	0	.	6.8639	0.24082	0.2106:0.1328:0.6566:0.0	.	62;62;62	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	R	62	ENSP00000427540:G62R;ENSP00000423099:G62R;ENSP00000421745:G62R;ENSP00000422512:G62R;ENSP00000425520:G62R;ENSP00000423160:G62R;ENSP00000423708:G62R;ENSP00000422312:G62R;ENSP00000420882:G62R	ENSP00000420882:G62R	G	+	1	0	CXorf40A	148435265	0.646000	0.27295	0.000000	0.03702	0.000000	0.00434	1.289000	0.33307	-0.411000	0.07530	-1.500000	0.00958	GGG		0.567	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		49	19	0	0	0	1	0	49	19				
ZFP64	55734	broad.mit.edu	37	20	50701717	50701717	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:50701717C>T	ENST00000361387.2	-	9	1377	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.E220E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAAGGCTTCTCCCCCGAGT	0.532																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1315-1317)gaG>gaA		ZFP64 zinc finger protein							59.0	53.0	55.0					20																	50701717		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701717C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1317G>A	20.37:g.50701717C>T						ZFP64_ENST00000371523.4_Silent_p.E220E|ZFP64_ENST00000371518.2_Intron	p.E439E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1377	-			396					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1317G>A	CCDS13439.1																																																																																				0.532	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		9	76	0	0	0	1	0	9	76				
TMEM174	134288	broad.mit.edu	37	5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:72469122G>A	ENST00000296776.5	+	1	101	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(52-54)Gtc>Atc		transmembrane protein 174							151.0	144.0	147.0					5																	72469122		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469122G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.52G>A	5.37:g.72469122G>A	ENSP00000296776:p.Val18Ile					TMEM174_ENST00000511737.1_3'UTR	p.V18I	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	101	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	18					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.52G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570454	0.28003	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.82	1.94	0.25998	.	0.243897	0.34652	N	0.003787	T	0.22085	0.0532	N	0.17082	0.46	0.25646	N	0.98614	B	0.21821	0.061	B	0.17098	0.017	T	0.15009	-1.0452	9	0.23891	T	0.37	-14.2458	7.173	0.25728	0.1891:0.2266:0.5843:0.0	.	18	Q8WUU8	TM174_HUMAN	I	18	.	ENSP00000296776:V18I	V	+	1	0	TMEM174	72504878	0.943000	0.32029	0.375000	0.26029	0.948000	0.59901	1.390000	0.34464	0.358000	0.24211	0.591000	0.81541	GTC		0.582	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		6	383	0	0	0	1	0	6	383				
RQCD1	9125	broad.mit.edu	37	2	219449427	219449427	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:219449427C>G	ENST00000273064.6	+	4	788	c.413C>G	c.(412-414)aCc>aGc	p.T138S	RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	138					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCGGCTCACCAGCCTTGGA	0.438																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(412-414)aCc>aGc		RCD1 required for cell differentiation1 homolog (S. pombe)							209.0	212.0	211.0					2																	219449427		2203	4300	6503	SO:0001583	missense	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219449427C>G	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.413C>G	2.37:g.219449427C>G	ENSP00000273064:p.Thr138Ser					RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	788	+		Renal(207;0.0915)	138					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	c.413C>G	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829239	0.90955	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.88570	2.965	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;P	0.77557	0.99;0.957;0.872	T	0.78079	-0.2344	10	0.36615	T	0.2	.	19.1489	0.93479	0.0:1.0:0.0:0.0	.	138;138;138	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	S	138	ENSP00000273064:T138S;ENSP00000441357:T138S;ENSP00000443687:T138S;ENSP00000295701:T138S	ENSP00000273064:T138S	T	+	2	0	RQCD1	219157671	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.685000	0.84117	2.587000	0.87381	0.563000	0.77884	ACC		0.438	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		5	314	0	0	0	1	0	5	314				
ABCA7	10347	broad.mit.edu	37	19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAGGTTTTGGGACCCTGG	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1450-1452)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 7							66.0	73.0	71.0					19																	1046233		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046233T>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1450T>G	19.37:g.1046233T>G	ENSP00000263094:p.Trp484Gly					ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR	p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1681	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	484					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1450T>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.414745	0.62511	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94828	-3.53;-3.53	4.95	4.95	0.65309	.	.	.	.	.	D	0.96787	0.8951	M	0.79123	2.44	0.46356	D	0.999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97146	0.9828	9	0.72032	D	0.01	.	12.5427	0.56182	0.0:0.0:0.0:1.0	.	346;484	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	484	ENSP00000263094:W484G;ENSP00000414062:W484G	ENSP00000263094:W484G	W	+	1	0	ABCA7	997233	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.869000	0.87170	1.858000	0.53909	0.454000	0.30748	TGG		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	340	0	0	0	1	0	4	340				
NNT	23530	broad.mit.edu	37	5	43659378	43659378	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:43659378A>T	ENST00000264663.5	+	17	2781	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y	NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	854					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTTCCTGCTCAACAACAATCT	0.512																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2560-2562)Aac>Tac		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						150.0	132.0	138.0					5																	43659378		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659378A>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2560A>T	5.37:g.43659378A>T	ENSP00000264663:p.Asn854Tyr					NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			17	2781	+	Lung NSC(6;2.58e-06)		854					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2560A>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109065	0.77096	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92397	-3.03;-3.03;-3.03	5.51	5.51	0.81932	.	0.041485	0.85682	D	0.000000	D	0.96194	0.8759	M	0.85373	2.75	0.58432	D	0.999999	D	0.71674	0.998	D	0.71870	0.975	D	0.96838	0.9616	10	0.87932	D	0	-18.2459	15.6362	0.76953	1.0:0.0:0.0:0.0	.	854	Q13423	NNTM_HUMAN	Y	369;854;854;723	ENSP00000264663:N854Y;ENSP00000343873:N854Y;ENSP00000426343:N723Y	ENSP00000264663:N854Y	N	+	1	0	NNT	43695135	0.985000	0.35326	1.000000	0.80357	0.994000	0.84299	2.823000	0.48081	2.083000	0.62718	0.533000	0.62120	AAC		0.512	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		49	92	0	0	0	1	0	49	92				
CSMD3	114788	broad.mit.edu	37	8	113241120	113241120	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:113241120C>G	ENST00000297405.5	-	70	11073	c.10829G>C	c.(10828-10830)gGa>gCa	p.G3610A	CSMD3_ENST00000352409.3_Splice_Site_p.G3540A|CSMD3_ENST00000455883.2_Splice_Site_p.G3441A|CSMD3_ENST00000343508.3_Splice_Site_p.G3570A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCAGTCCTACaaaata	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e70-1		CUB and Sushi multiple domains 3							43.0	45.0	44.0					8																	113241120		2203	4298	6501	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113241120C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10829-1G>C	8.37:g.113241120C>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.G3540_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3570_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3441_splice	p.G3610_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11073	-			3610					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10828_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345397	0.61073	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	2.16;2.16;2.18;1.86;2.18	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.47600	0.1454	L	0.56769	1.78	0.58432	D	0.999999	P;P;D	0.62365	0.899;0.926;0.991	P;B;P	0.61201	0.549;0.421;0.885	T	0.32929	-0.9888	10	0.59425	D	0.04	.	20.0345	0.97552	0.0:1.0:0.0:0.0	.	3441;3610;3570	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3570;3610;2880;3441;3540	ENSP00000345799:G3570A;ENSP00000297405:G3610A;ENSP00000341558:G2880A;ENSP00000412263:G3441A;ENSP00000343124:G3540A	ENSP00000297405:G3610A	G	-	2	0	CSMD3	113310296	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.414000	0.80117	2.797000	0.96272	0.655000	0.94253	GGA		0.279	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	11	97	0	0	0	1	0	11	97				
CD74	972	broad.mit.edu	37	5	149792211	149792211	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:149792211G>A	ENST00000009530.7	-	1	103	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000353334.6_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	34					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCGCCGGCCCAGCATGG	0.617			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(100-102)ggC>ggT		CD74 molecule, major histocompatibility complex, class II invariant chain							83.0	89.0	87.0					5																	149792211		2203	4300	6503	SO:0001819	synonymous_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149792211G>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.102C>T	5.37:g.149792211G>A						CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G	p.G34G	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	281	-		all_hematologic(541;0.224)	34					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	37	c.102C>T	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	G	2.726	-0.265525	0.05754	.	.	ENSG00000019582	ENST00000518797	.	.	.	5.77	3.82	0.43975	.	.	.	.	.	T	0.54951	0.1890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52026	-0.8630	4	.	.	.	-24.0223	5.8013	0.18416	0.0978:0.0:0.6668:0.2355	.	.	.	.	S	29	.	.	P	-	1	0	CD74	149772404	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	2.738000	0.47401	1.440000	0.47531	0.655000	0.94253	CCG		0.617	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		7	280	0	0	0	1	0	7	280				
DUSP22	56940	broad.mit.edu	37	6	348220	348220	+	Silent	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348220C>G	ENST00000344450.5	+	6	824	c.381C>G	c.(379-381)ccC>ccG	p.P127P	DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000604971.1_Silent_p.P24P|DUSP22_ENST00000605035.1_Silent_p.P24P|DUSP22_ENST00000603453.1_Silent_p.P24P	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	127	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTGCCAACCCCAACGTGGGCT	0.577																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(70-72)ccC>ccG		dual specificity phosphatase 22							136.0	123.0	127.0					6																	348220		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348220C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.381C>G	6.37:g.348220C>G						DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P|DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P	p.P24P			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1185	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	127					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.72C>G	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382835	0.25031	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	2.91	0.33838	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20907	-1.0261	4	.	.	.	.	4.6619	0.12646	0.4083:0.3669:0.0:0.2248	.	.	.	.	E	65	.	.	Q	+	1	0	DUSP22	293220	0.968000	0.33430	1.000000	0.80357	0.991000	0.79684	0.171000	0.16685	0.301000	0.22738	-0.345000	0.07892	CAA		0.577	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		7	235	0	0	0	1	0	7	235				
INTS4	92105	broad.mit.edu	37	11	77649841	77649841	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:77649841C>G	ENST00000534064.1	-	10	1055	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q|INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	341					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTAAAGTTCCTTGGCACGC	0.483																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1021-1023)Gaa>Caa		integrator complex subunit 4							62.0	62.0	62.0					11																	77649841		2200	4290	6490	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77649841C>G	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1021G>C	11.37:g.77649841C>G	ENSP00000434466:p.Glu341Gln					INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q	p.E341Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		10	1055	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		341					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1021G>C	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524283	0.85600	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	D;D	0.85773	-2.03;-2.03	4.17	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	0.056526	0.64402	D	0.000002	T	0.81317	0.4797	L	0.61036	1.89	0.80722	D	1	P	0.41673	0.759	B	0.32289	0.143	D	0.84182	0.0440	10	0.48119	T	0.1	-18.5049	16.6644	0.85248	0.0:1.0:0.0:0.0	.	341	Q96HW7	INT4_HUMAN	Q	341;192;341	ENSP00000434466:E341Q;ENSP00000433644:E341Q	ENSP00000346913:E192Q	E	-	1	0	INTS4	77327489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.013000	0.76373	2.140000	0.66376	0.471000	0.43371	GAA		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		11	321	0	0	0	1	0	11	321				
ME1	4199	broad.mit.edu	37	6	84025055	84025055	+	Silent	SNP	G	G	A	rs186078215		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:84025055G>A	ENST00000369705.3	-	6	794	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ME1_ENST00000541327.1_Silent_p.D60D|ME1_ENST00000543031.1_Silent_p.D151D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCATGAATTCGTCCAAAAAAT	0.303													G|||	1	0.000199681	0.0	0.0	5008	,	,		15356	0.001		0.0	False		,,,				2504	0.0					ENST00000369705.3																			1	Substitution - coding silent(1)	p.D226D(1)	prostate(1)	NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(676-678)gaC>gaT		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)	G		0,4406		0,0,2203	109.0	111.0	110.0		678	1.8	1.0	6		110	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ME1	NM_002395.4		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		226/573	84025055	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84025055G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.678C>T	6.37:g.84025055G>A						ME1_ENST00000543031.1_Silent_p.D151D|ME1_ENST00000541327.1_Silent_p.D60D	p.D226D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	6	794	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	226					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.678C>T	CCDS34492.1																																																																																				0.303	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			14	178	0	0	0	1	0	14	178				
FOXI1	2299	broad.mit.edu	37	5	169533255	169533255	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:169533255C>T	ENST00000306268.6	+	1	355	c.294C>T	c.(292-294)agC>agT	p.S98S	FOXI1_ENST00000449804.2_Silent_p.S98S			Q12951	FOXI1_HUMAN	forkhead box I1	98					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGCCCAGCGTGTCGGGGC	0.697									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(292-294)agC>agT		forkhead box I1							10.0	9.0	9.0					5																	169533255		2188	4264	6452	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169533255C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.294C>T	5.37:g.169533255C>T						FOXI1_ENST00000306268.6_Silent_p.S98S	p.S98S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	339	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	98					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.294C>T	CCDS4372.1																																																																																				0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		5	9	0	0	0	1	0	5	9				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	19	0	0	0	1	0	34	19				
ABCA6	23460	broad.mit.edu	37	17	67101613	67101613	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:67101613G>C	ENST00000284425.2	-	20	2904	c.2730C>G	c.(2728-2730)atC>atG	p.I910M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	910					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGTGTTATTGATGATCAACA	0.363																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2728-2730)atC>atG		ATP-binding cassette, sub-family A (ABC1), member 6							48.0	49.0	49.0					17																	67101613		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67101613G>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2730C>G	17.37:g.67101613G>C	ENSP00000284425:p.Ile910Met						p.I910M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			20	2904	-	Breast(10;5.65e-12)		910					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2730C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.938932	0.52972	.	.	ENSG00000154262	ENST00000284425	D	0.86694	-2.16	4.97	4.97	0.65823	.	0.477342	0.17858	N	0.159605	D	0.92218	0.7532	M	0.84846	2.72	0.80722	D	1	D	0.58970	0.984	D	0.64321	0.924	D	0.90387	0.4392	10	0.34782	T	0.22	.	9.4729	0.38853	0.0945:0.0:0.9055:0.0	.	910	Q8N139	ABCA6_HUMAN	M	910	ENSP00000284425:I910M	ENSP00000284425:I910M	I	-	3	3	ABCA6	64613208	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.817000	0.39002	2.743000	0.94032	0.591000	0.81541	ATC		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		5	92	0	0	0	1	0	5	92				
CTDP1	9150	broad.mit.edu	37	18	77464812	77464812	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:77464812A>G	ENST00000299543.7	+	5	814	c.667A>G	c.(667-669)Acg>Gcg	p.T223A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A|RP11-567M16.5_ENST00000587315.1_RNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	223	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATGCTGCACACGCGCCTGCG	0.602																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(667-669)Acg>Gcg		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							81.0	72.0	75.0					18																	77464812		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77464812A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.667A>G	18.37:g.77464812A>G	ENSP00000299543:p.Thr223Ala					CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A	p.T223A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	5	814	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	223			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.667A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768909	0.90020	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.17213	2.29;2.29	4.96	4.96	0.65561	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.39078	-0.9631	10	0.39692	T	0.17	-35.504	14.9166	0.70801	1.0:0.0:0.0:0.0	.	104;223;223	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	A	223	ENSP00000299543:T223A;ENSP00000075430:T223A	ENSP00000075430:T223A	T	+	1	0	CTDP1	75565800	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	8.440000	0.90311	1.975000	0.57531	0.533000	0.62120	ACG		0.602	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		12	160	0	0	0	1	0	12	160				
ZNF846	162993	broad.mit.edu	37	19	9874046	9874046	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:9874046G>A	ENST00000397902.2	-	3	467	c.54C>T	c.(52-54)acC>acT	p.T18T	ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_5'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTCCTCCTGGGTAAAGTCCA	0.423																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(52-54)acC>acT		zinc finger protein 846							131.0	136.0	134.0					19																	9874046		2203	4300	6503	SO:0001819	synonymous_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9874046G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.54C>T	19.37:g.9874046G>A						ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron	p.T18T	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			3	467	-			18			KRAB.		A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	c.54C>T	CCDS42496.1																																																																																				0.423	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		58	206	0	0	0	1	0	58	206				
CCDC6	8030	broad.mit.edu	37	10	61564269	61564269	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:61564269A>C	ENST00000263102.6	-	7	1245	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	338						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGACATCTCATTAAAATACC	0.448			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1012-1014)aaT>aaG		coiled-coil domain containing 6							114.0	106.0	109.0					10																	61564269		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61564269A>C	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1014T>G	10.37:g.61564269A>C	ENSP00000263102:p.Asn338Lys						p.N338K	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	7	1245	-			338					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1014T>G	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008340	0.75046	.	.	ENSG00000108091	ENST00000263102	T	0.53857	0.6	5.47	-9.01	0.00744	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.61703	1.905	0.58432	D	0.999996	D	0.62365	0.991	D	0.76575	0.988	T	0.77920	-0.2407	10	0.66056	D	0.02	-16.3082	20.9343	0.99941	0.8765:0.0:0.1235:0.0	.	338	Q16204	CCDC6_HUMAN	K	338	ENSP00000263102:N338K	ENSP00000263102:N338K	N	-	3	2	CCDC6	61234275	0.321000	0.24625	0.709000	0.30452	0.994000	0.84299	-0.185000	0.09684	-1.786000	0.01269	-0.250000	0.11733	AAT		0.448	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		34	59	0	0	0	1	0	34	59				
CD1A	909	broad.mit.edu	37	1	158226059	158226059	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:158226059T>C	ENST00000289429.5	+	3	1124	c.591T>C	c.(589-591)caT>caC	p.H197H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	197	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAAGGCACATCTCCAGCGGC	0.453																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(589-591)caT>caC		CD1a molecule	Antithymocyte globulin(DB00098)						128.0	106.0	113.0					1																	158226059		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226059T>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.591T>C	1.37:g.158226059T>C							p.H197H	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1124	+	all_hematologic(112;0.0378)		197			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.591T>C	CCDS1174.1																																																																																				0.453	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		6	168	0	0	0	1	0	6	168				
TEKT1	83659	broad.mit.edu	37	17	6716181	6716181	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:6716181G>A	ENST00000338694.2	-	6	950	c.821C>T	c.(820-822)gCc>gTc	p.A274V	TEKT1_ENST00000535086.1_Missense_Mutation_p.A128V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	274						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTTGTCCCTGGCATCCTTTGT	0.522																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(820-822)gCc>gTc		tektin 1							209.0	171.0	184.0					17																	6716181		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716181G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.821C>T	17.37:g.6716181G>A	ENSP00000341346:p.Ala274Val					TEKT1_ENST00000535086.1_Missense_Mutation_p.A128V	p.A274V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	950	-		Myeloproliferative disorder(207;0.0255)	274					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.821C>T	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221411	0.58560	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03124	4.04;4.04	4.79	3.8	0.43715	.	0.055200	0.64402	D	0.000001	T	0.07638	0.0192	L	0.53249	1.67	0.50632	D	0.999887	B	0.24823	0.112	B	0.41691	0.364	T	0.25047	-1.0143	10	0.31617	T	0.26	.	10.37	0.44049	0.0969:0.0:0.9031:0.0	.	274	Q969V4	TEKT1_HUMAN	V	274;128	ENSP00000341346:A274V;ENSP00000444142:A128V	ENSP00000341346:A274V	A	-	2	0	TEKT1	6656905	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	6.355000	0.73041	2.375000	0.81037	0.591000	0.81541	GCC		0.522	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		5	248	0	0	0	1	0	5	248				
DDA1	79016	broad.mit.edu	37	19	17424890	17424890	+	Missense_Mutation	SNP	C	C	T	rs372277903		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:17424890C>T	ENST00000359866.4	+	2	186	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	21										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGATTTCACGCGGACTCCGTG	0.527																																						ENST00000359866.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(61-63)gCg>gTg		DET1 and DDB1 associated 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	107.0	107.0		62	5.0	1.0	19		107	0,8600		0,0,4300	no	missense	DDA1	NM_024050.5	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	21/103	17424890	1,13005	2203	4300	6503	SO:0001583	missense	79016							g.chr19:17424890C>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.62C>T	19.37:g.17424890C>T	ENSP00000352928:p.Ala21Val						p.A21V	NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN			2	186	+			21						Missense_Mutation	SNP	ENST00000359866.4	37	c.62C>T	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620821	0.66787	2.27E-4	0.0	ENSG00000130311	ENST00000359866	.	.	.	4.98	4.98	0.66077	Ubiquitin ligase, Det1/DDB1-complexing (1);	0.128045	0.52532	D	0.000073	T	0.49541	0.1563	L	0.43152	1.355	0.80722	D	1	B	0.31290	0.318	B	0.28638	0.092	T	0.47812	-0.9088	9	0.32370	T	0.25	-18.1163	15.7641	0.78110	0.0:1.0:0.0:0.0	.	21	Q9BW61	DDA1_HUMAN	V	21	.	ENSP00000352928:A21V	A	+	2	0	DDA1	17285890	1.000000	0.71417	0.954000	0.39281	0.869000	0.49853	7.456000	0.80751	2.305000	0.77605	0.555000	0.69702	GCG		0.527	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		10	269	0	0	0	1	0	10	269				
GNPNAT1	64841	broad.mit.edu	37	14	53248533	53248533	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:53248533A>G	ENST00000216410.3	-	4	501	c.314T>C	c.(313-315)aTa>aCa	p.I105T	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	105	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TTTATGTTCTATAATCAGAGT	0.363																																						ENST00000216410.3																			0				liver(1)|lung(1)|prostate(1)|skin(1)	4						c.(313-315)aTa>aCa		glucosamine-phosphate N-acetyltransferase 1							118.0	118.0	118.0					14																	53248533		2203	4299	6502	SO:0001583	missense	0				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53248533A>G	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.314T>C	14.37:g.53248533A>G	ENSP00000216410:p.Ile105Thr					GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	p.I105T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN			4	501	-	Breast(41;0.176)		105			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000216410.3	37	c.314T>C	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455353	0.43634	.	.	ENSG00000100522	ENST00000216410;ENST00000554230;ENST00000557604	T;T;T	0.23147	1.92;1.92;1.92	5.52	5.52	0.82312	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.135171	0.64402	D	0.000002	T	0.30727	0.0774	L	0.60012	1.86	0.58432	D	0.999998	B	0.12013	0.005	B	0.23574	0.047	T	0.05386	-1.0888	10	0.52906	T	0.07	-22.8772	15.9507	0.79835	1.0:0.0:0.0:0.0	.	105	Q96EK6	GNA1_HUMAN	T	105;34;105	ENSP00000216410:I105T;ENSP00000452310:I34T;ENSP00000452032:I105T	ENSP00000216410:I105T	I	-	2	0	GNPNAT1	52318283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.788000	0.69020	2.232000	0.73038	0.528000	0.53228	ATA		0.363	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			18	249	0	0	0	1	0	18	249				
AK9	221264	broad.mit.edu	37	6	109854627	109854627	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:109854627C>T	ENST00000424296.2	-	28	3473	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T	AK9_ENST00000341338.6_Missense_Mutation_p.A212T|AK9_ENST00000355283.1_Missense_Mutation_p.A212T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1133	Adenylate kinase 2.|LID 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AAAAACTGGGCCTCTTCTGGA	0.363																																						ENST00000424296.2																			0											c.(3397-3399)Gcc>Acc		adenylate kinase 9							67.0	65.0	66.0					6																	109854627		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109854627C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3397G>A	6.37:g.109854627C>T	ENSP00000410186:p.Ala1133Thr					AK9_ENST00000355283.1_Missense_Mutation_p.A212T|AK9_ENST00000341338.6_Missense_Mutation_p.A212T	p.A1133T	NM_001145128.2	NP_001138600.2					28	3473	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3397G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732200	0.30684	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.81415	-1.49;-1.49;-1.49	5.29	4.42	0.53409	ATPase, AAA+ type, core (1);	0.637913	0.16504	N	0.211524	T	0.68952	0.3057	M	0.85197	2.74	0.21064	N	0.999797	B;B	0.28850	0.225;0.17	B;B	0.26517	0.07;0.047	T	0.64470	-0.6400	9	.	.	.	.	8.9782	0.35948	0.0:0.7762:0.0:0.2238	.	212;1133	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	T	1133;212;212	ENSP00000410186:A1133T;ENSP00000347431:A212T;ENSP00000344637:A212T	.	A	-	1	0	AKD1	109961320	1.000000	0.71417	0.643000	0.29450	0.362000	0.29581	2.153000	0.42282	1.376000	0.46267	0.643000	0.83706	GCC		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		7	145	0	0	0	1	0	7	145				
TULP4	56995	broad.mit.edu	37	6	158870156	158870156	+	Silent	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:158870156G>T	ENST00000367097.3	+	4	2029	c.672G>T	c.(670-672)gtG>gtT	p.V224V	TULP4_ENST00000367094.2_Silent_p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	224					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTTCCTGGTGGAGGACAGCA	0.567																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(670-672)gtG>gtT		tubby like protein 4							186.0	143.0	158.0					6																	158870156		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870156G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.672G>T	6.37:g.158870156G>T						TULP4_ENST00000367094.2_Silent_p.V224V	p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2029	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	224					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.672G>T	CCDS34561.1																																																																																				0.567	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		23	117	1	0	7.87624e-14	1	8.33505e-14	23	117				
RBM12B	389677	broad.mit.edu	37	8	94748587	94748587	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748587C>T	ENST00000399300.2	-	3	265	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	18							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGACGAATATCCACAGGCCCC	0.448																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(52-54)Gat>Aat		RNA binding motif protein 12B							60.0	60.0	60.0					8																	94748587		1876	4119	5995	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748587C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.52G>A	8.37:g.94748587C>T	ENSP00000382239:p.Asp18Asn					RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N|RBM12B_ENST00000520961.1_Intron	p.D18N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	265	-	Breast(36;4.14e-07)		18					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.52G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963757	0.74016	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.22945	2.7;2.7;1.95;1.93;2.7;2.7	5.8	4.9	0.64082	.	0.095587	0.45867	N	0.000336	T	0.60038	0.2238	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70806	-0.4772	10	0.87932	D	0	-22.797	13.7103	0.62665	0.0:0.9225:0.0:0.0775	.	18	Q8IXT5	RB12B_HUMAN	N	18	ENSP00000382239:D18N;ENSP00000427729:D18N;ENSP00000430474:D18N;ENSP00000428269:D18N;ENSP00000429807:D18N;ENSP00000430466:D18N	ENSP00000382239:D18N	D	-	1	0	RBM12B	94817763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.783000	0.68982	1.392000	0.46585	0.655000	0.94253	GAT		0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		7	245	0	0	0	1	0	7	245				
RDH5	5959	broad.mit.edu	37	12	56118162	56118162	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:56118162G>A	ENST00000257895.5	+	5	942	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	264			V -> G (in RPA; decreased stability).		phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CCTAACCAAGGTGAGCCGATG	0.587											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257895.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12						c.(790-792)Gtg>Atg		retinol dehydrogenase 5 (11-cis/9-cis)	NADH(DB00157)|Vitamin A(DB00162)						148.0	124.0	132.0					12																	56118162		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118162G>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.790G>A	12.37:g.56118162G>A	ENSP00000257895:p.Val264Met		OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN			5	942	+			264					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.790G>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713063	0.89112	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.90676	-2.71;-2.71;-2.71	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98239	1.0487	10	0.87932	D	0	.	15.973	0.80034	0.0:0.0:1.0:0.0	.	264	Q92781	RDH1_HUMAN	M	167;264;264	ENSP00000449927:V167M;ENSP00000257895:V264M;ENSP00000447128:V264M	ENSP00000257895:V264M	V	+	1	0	RDH5	54404429	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.720000	0.98763	2.449000	0.82847	0.561000	0.74099	GTG		0.587	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		8	124	0	0	0	1	0	8	124				
DNAH9	1770	broad.mit.edu	37	17	11795206	11795206	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:11795206C>A	ENST00000262442.4	+	58	11293	c.11225C>A	c.(11224-11226)aCc>aAc	p.T3742N	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3742N|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.T54N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3742					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACCAGTACACCATCCGCGGG	0.502																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11224-11226)aCc>aAc		dynein, axonemal, heavy chain 9							169.0	163.0	165.0					17																	11795206		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11795206C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11225C>A	17.37:g.11795206C>A	ENSP00000262442:p.Thr3742Asn					DNAH9_ENST00000396001.2_Missense_Mutation_p.T54N|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3742N	p.T3742N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	58	11293	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3742					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11225C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818552	0.71028	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.56941	0.43;0.43;0.43	5.45	5.45	0.79879	.	0.093121	0.85682	D	0.000000	T	0.81781	0.4895	H	0.96547	3.84	0.80722	D	1	D;D	0.69078	0.984;0.997	P;D	0.69479	0.866;0.964	D	0.86912	0.2061	10	0.72032	D	0.01	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	95;3742	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	N	3742;3742;2324;54;95	ENSP00000262442:T3742N;ENSP00000414874:T3742N;ENSP00000379323:T54N	ENSP00000262442:T3742N	T	+	2	0	DNAH9	11735931	1.000000	0.71417	0.991000	0.47740	0.242000	0.25591	5.849000	0.69465	2.836000	0.97738	0.655000	0.94253	ACC		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	334	1	0	0.000602214	1	0.000619258	5	334				
EVC	2121	broad.mit.edu	37	4	5798788	5798788	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:5798788G>A	ENST00000264956.6	+	14	2110	c.1926G>A	c.(1924-1926)ttG>ttA	p.L642L	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.L642L	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTGCTGTTGCGCTCAGCCC	0.647																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1924-1926)ttG>ttA		Ellis van Creveld syndrome							43.0	43.0	43.0					4																	5798788		2202	4300	6502	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5798788G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1926G>A	4.37:g.5798788G>A						EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.L642L	p.L642L			P57679	EVC_HUMAN			14	2110	+		Myeloproliferative disorder(84;0.117)	642						Silent	SNP	ENST00000264956.6	37	c.1926G>A	CCDS3383.1																																																																																				0.647	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	68	0	0	0	1	0	8	68				
BNC2	54796	broad.mit.edu	37	9	16437000	16437000	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:16437000C>T	ENST00000380672.4	-	6	1249	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	BNC2_ENST00000380667.2_Missense_Mutation_p.E331K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K|BNC2_ENST00000380666.2_Missense_Mutation_p.E398K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGCTGGCTCGGTTTTGGGC	0.468																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1192-1194)Gag>Aag		basonuclin 2							73.0	77.0	76.0					9																	16437000		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437000C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1192G>A	9.37:g.16437000C>T	ENSP00000370047:p.Glu398Lys					BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K	p.E398K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1249	-			398						Missense_Mutation	SNP	ENST00000380672.4	37	c.1192G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880553	0.72294	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.36157	1.33;1.27;1.35;1.35;1.27	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.978;0.987;0.984;0.995;0.978;0.978;0.992;0.992	D;B;P;P;P;B;B;P;B	0.69824	0.966;0.197;0.597;0.569;0.613;0.3;0.3;0.51;0.409	T	0.31530	-0.9940	10	0.21014	T	0.42	-22.952	20.4082	0.99013	0.0:1.0:0.0:0.0	.	303;331;398;224;398;355;398;303;163	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	398;355;331;303;224;398;398	ENSP00000370047:E398K;ENSP00000408370:E355K;ENSP00000370042:E331K;ENSP00000444640:E303K;ENSP00000370041:E398K	ENSP00000370041:E398K	E	-	1	0	BNC2	16427000	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.996000	0.70639	2.814000	0.96858	0.655000	0.94253	GAG		0.468	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		40	62	0	0	0	1	0	40	62				
MEGF10	84466	broad.mit.edu	37	5	126753365	126753365	+	Missense_Mutation	SNP	C	C	A	rs141706024		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:126753365C>A	ENST00000274473.6	+	11	1433	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q|MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	389	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCTGCAAGCCGGGCTGGTCA	0.517																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1165-1167)cCg>cAg		multiple EGF-like-domains 10							139.0	121.0	127.0					5																	126753365		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126753365C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1166C>A	5.37:g.126753365C>A	ENSP00000274473:p.Pro389Gln					MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q	p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	11	1433	+		Prostate(80;0.165)	389			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1166C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644588	0.87859	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.075885	0.53938	D	0.000053	T	0.76564	0.4005	M	0.89785	3.06	0.49798	D	0.999829	P;P	0.42692	0.762;0.787	P;P	0.56216	0.794;0.778	T	0.78778	-0.2071	10	0.54805	T	0.06	-3.0761	19.8252	0.96614	0.0:1.0:0.0:0.0	.	389;389	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	Q	389	ENSP00000423354:P389Q;ENSP00000423195:P389Q;ENSP00000416284:P389Q;ENSP00000274473:P389Q	ENSP00000274473:P389Q	P	+	2	0	MEGF10	126781264	0.999000	0.42202	0.988000	0.46212	0.992000	0.81027	4.103000	0.57783	2.692000	0.91855	0.655000	0.94253	CCG		0.517	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		13	312	1	0	1.02788e-11	1	1.0773e-11	13	312				
KCNMA1	3778	broad.mit.edu	37	10	78649254	78649254	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:78649254C>T	ENST00000286628.8	-	27	3415	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1139					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATCTCTCAGCCGGTAAATTCC	0.438																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3241-3243)cGg>cAg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						87.0	86.0	86.0					10																	78649254		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78649254C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3416G>A	10.37:g.78649254C>T	ENSP00000286628:p.Arg1139Gln					RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q	p.R1081Q	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		26	4194	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1139					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3242G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.700521|5.700521	0.96802|0.96802	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.92048	.|-2.87;-2.84;-2.92;-2.94;-2.92;-2.84;-2.96;-2.95;-2.84	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96244|0.96244	0.8775|0.8775	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.997;0.997;0.999;0.999;1.0;0.999;1.0;0.999	D|D	0.95714|0.95714	0.8760|0.8760	5|10	.|0.87932	.|D	.|0	-12.2875|-12.2875	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1110;1111;1122;1139;1081;892;1142;1108	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	S|Q	1032|1081;1018;1074;1113;1076;1108;1081;1113;1143;1142;1122;892	.|ENSP00000361517:R1081Q;ENSP00000361485:R1018Q;ENSP00000361514:R1074Q;ENSP00000396608:R1113Q;ENSP00000361520:R1108Q;ENSP00000286627:R1081Q;ENSP00000385552:R1143Q;ENSP00000346321:R1142Q;ENSP00000385806:R1122Q	.|ENSP00000286627:R1081Q	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78319260|78319260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		8	168	0	0	0	1	0	8	168				
METTL3	56339	broad.mit.edu	37	14	21971545	21971545	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:21971545C>T	ENST00000298717.4	-	3	645	c.494G>A	c.(493-495)gGc>gAc	p.G165D	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	165					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCCCCAGGGCCCTTCTTTTC	0.542																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(493-495)gGc>gAc		methyltransferase like 3							95.0	83.0	87.0					14																	21971545		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971545C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.494G>A	14.37:g.21971545C>T	ENSP00000298717:p.Gly165Asp					METTL3_ENST00000538267.1_Intron	p.G165D	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	645	-	all_cancers(95;0.000628)		165					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.494G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879689	0.91740	.	.	ENSG00000165819	ENST00000298717	T	0.32988	1.43	5.36	5.36	0.76844	.	0.159429	0.56097	D	0.000037	T	0.26268	0.0641	L	0.32530	0.975	0.80722	D	1	P;B;P	0.40731	0.728;0.215;0.596	B;B;B	0.38803	0.282;0.174;0.189	T	0.01791	-1.1273	10	0.22706	T	0.39	-4.7983	18.0313	0.89285	0.0:1.0:0.0:0.0	.	165;165;165	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	D	165	ENSP00000298717:G165D	ENSP00000298717:G165D	G	-	2	0	METTL3	21041385	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.551000	0.60740	2.797000	0.96272	0.563000	0.77884	GGC		0.542	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		39	107	0	0	0	1	0	39	107				
PLXND1	23129	broad.mit.edu	37	3	129289944	129289944	+	Missense_Mutation	SNP	G	G	A	rs528635984		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:129289944G>A	ENST00000324093.4	-	18	3717	c.3539C>T	c.(3538-3540)aCg>aTg	p.T1180M	PLXND1_ENST00000393239.1_Missense_Mutation_p.T1180M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1180					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCTTGGCCGTAGAGAACTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.0		0.0	False		,,,				2504	0.001				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3538-3540)aCg>aTg		plexin D1							137.0	150.0	146.0					3																	129289944		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289944G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3539C>T	3.37:g.129289944G>A	ENSP00000317128:p.Thr1180Met					PLXND1_ENST00000324093.4_Missense_Mutation_p.T1180M	p.T1180M			Q9Y4D7	PLXD1_HUMAN			18	3717	-			1180					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3539C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859213	0.71834	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35605	1.35;1.3	5.08	5.08	0.68730	.	0.338132	0.30830	N	0.008800	T	0.56031	0.1958	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.56288	-0.8004	10	0.49607	T	0.09	.	18.4653	0.90752	0.0:0.0:1.0:0.0	.	1180	Q9Y4D7	PLXD1_HUMAN	M	1180	ENSP00000317128:T1180M;ENSP00000376931:T1180M	ENSP00000317128:T1180M	T	-	2	0	PLXND1	130772634	1.000000	0.71417	0.996000	0.52242	0.394000	0.30568	9.121000	0.94375	2.366000	0.80165	0.491000	0.48974	ACG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	399	0	0	0	1	0	5	399				
GTF2H3	2967	broad.mit.edu	37	12	124132661	124132661	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:124132661C>T	ENST00000543341.2	+	4	383	c.352C>T	c.(352-354)Cta>Tta	p.L118L	GTF2H3_ENST00000228955.7_Silent_p.L77L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	118					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GATTAAAGATCTAATGACCAA	0.343								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(352-354)Cta>Tta	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							49.0	51.0	50.0					12																	124132661		2203	4300	6503	SO:0001819	synonymous_variant	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124132661C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.352C>T	12.37:g.124132661C>T						GTF2H3_ENST00000228955.7_Silent_p.L77L	p.L118L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	4	383	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		118					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	ENST00000543341.2	37	c.352C>T	CCDS9252.1																																																																																				0.343	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		40	73	0	0	0	1	0	40	73				
IARS	3376	broad.mit.edu	37	9	95033878	95033878	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:95033878G>A	ENST00000375643.3	-	11	1316	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	350					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATCCACAGGGCAAACAGGGA	0.448																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1048-1050)tgC>tgT		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						132.0	121.0	124.0					9																	95033878		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95033878G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1050C>T	9.37:g.95033878G>A						IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	p.C350C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			11	1316	-			350					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.1050C>T	CCDS6694.1																																																																																				0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		4	187	0	0	0	1	0	4	187				
RBM26	64062	broad.mit.edu	37	13	79940828	79940828	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:79940828T>C	ENST00000438737.2	-	7	1515	c.1075A>G	c.(1075-1077)Aat>Gat	p.N359D	RBM26_ENST00000438724.1_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.N359D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	359	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCCTGAGATTCACAGGTGGG	0.542																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1075-1077)Aat>Gat		RNA binding motif protein 26							40.0	45.0	43.0					13																	79940828		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79940828T>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1075A>G	13.37:g.79940828T>C	ENSP00000387531:p.Asn359Asp					RBM26_ENST00000267229.7_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000438724.1_Missense_Mutation_p.N359D	p.N359D			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	7	1515	-		Acute lymphoblastic leukemia(28;0.0279)	359			Pro-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1075A>G		.	.	.	.	.	.	.	.	.	.	T	27.5	4.836569	0.91117	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.46819	0.87;0.86	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.46157	1.445	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.76071	0.987;0.971;0.987	T	0.59521	-0.7439	9	.	.	.	-26.0839	15.8734	0.79141	0.0:0.0:0.0:1.0	.	359;359;359	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	D	359;360;359;359	ENSP00000267229:N359D;ENSP00000390222:N359D	.	N	-	1	0	RBM26	78838829	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.862000	0.69560	2.201000	0.70794	0.533000	0.62120	AAT		0.542	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		4	141	0	0	0	1	0	4	141				
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299.0	234.0	256.0		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		4	80	0	0	0	1	0	4	80				
LCN2	3934	broad.mit.edu	37	9	130912582	130912582	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:130912582G>A	ENST00000373017.1	+	3	441	c.204G>A	c.(202-204)ccG>ccA	p.P68P	LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000540948.1_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000277480.2_Silent_p.P68P			P80188	NGAL_HUMAN	lipocalin 2	68					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						ACAAAGACCCGCAAAAGATGT	0.512																																						ENST00000540948.1																			0				central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(202-204)ccG>ccA		lipocalin 2							168.0	144.0	152.0					9																	130912582		2203	4300	6503	SO:0001819	synonymous_variant	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130912582G>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.204G>A	9.37:g.130912582G>A						LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P	p.P68P			P80188	NGAL_HUMAN			2	277	+			68					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Silent	SNP	ENST00000373017.1	37	c.204G>A	CCDS6892.1																																																																																				0.512	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		4	181	0	0	0	1	0	4	181				
STXBP4	252983	broad.mit.edu	37	17	53218683	53218683	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:53218683G>A	ENST00000376352.2	+	17	1709	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	501	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACCTTATGGGTGGGAGGAA	0.363																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1501-1503)gGg>gAg		syntaxin binding protein 4							99.0	97.0	98.0					17																	53218683		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53218683G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1502G>A	17.37:g.53218683G>A	ENSP00000365530:p.Gly501Glu					STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	p.G501E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			17	1709	+			501			WW.		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1502G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982952	0.74474	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	D;D	0.87334	-2.24;-2.24	5.53	5.53	0.82687	WW/Rsp5/WWP (5);	0.061993	0.64402	D	0.000006	D	0.94473	0.8221	M	0.91140	3.18	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.64595	0.881;0.927	D	0.95117	0.8243	10	0.87932	D	0	-3.7963	17.004	0.86388	0.0:0.0:1.0:0.0	.	479;501	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	E	501;479	ENSP00000365530:G501E;ENSP00000391087:G479E	ENSP00000365530:G501E	G	+	2	0	STXBP4	50573682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.883000	0.75595	2.882000	0.98803	0.655000	0.94253	GGG		0.363	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		9	154	0	0	0	1	0	9	154				
ABCB7	22	broad.mit.edu	37	X	74282268	74282268	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:74282268T>C	ENST00000373394.3	-	14	1839		c.e14-2		ABCB7_ENST00000339447.4_Splice_Site|ABCB7_ENST00000253577.3_Splice_Site|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7						cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTCTCCTCCTGGTAAAGGAA	0.363																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.e14-2		ATP-binding cassette, sub-family B (MDR/TAP), member 7							88.0	77.0	81.0					X																	74282268		2203	4299	6502	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282268T>C	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1832-2A>G	X.37:g.74282268T>C						ABCB7_ENST00000373394.3_Splice_Site|ABCB7_ENST00000339447.4_Splice_Site		NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			14	1859	-								G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Splice_Site	SNP	ENST00000373394.3	37			.	.	.	.	.	.	.	.	.	.	T	17.02	3.282209	0.59867	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2948	0.60290	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB7	74198993	1.000000	0.71417	0.982000	0.44146	0.855000	0.48748	7.546000	0.82137	1.733000	0.51620	0.437000	0.28790	.		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Intron	4	59	0	0	0	1	0	4	59				
CWC22	57703	broad.mit.edu	37	2	180810352	180810352	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810352T>G	ENST00000410053.3	-	20	2530	c.2231A>C	c.(2230-2232)cAa>cCa	p.Q744P	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	744					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTTCTTTTTGTTTCCTATC	0.393																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2230-2232)cAa>cCa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							122.0	112.0	115.0					2																	180810352		1854	4095	5949	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810352T>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2231A>C	2.37:g.180810352T>G	ENSP00000387006:p.Gln744Pro					CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2530	-			744					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2231A>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	6.579	0.475131	0.12521	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.23348	2.19;2.19;1.91	5.02	3.87	0.44632	.	1.156650	0.06053	N	0.656875	T	0.23210	0.0561	L	0.40543	1.245	0.09310	N	1	B	0.17268	0.021	B	0.17722	0.019	T	0.27640	-1.0068	10	0.56958	D	0.05	-1.1062	5.2728	0.15634	0.0:0.0981:0.1962:0.7058	.	744	Q9HCG8	CWC22_HUMAN	P	744	ENSP00000387006:Q744P;ENSP00000295749:Q744P;ENSP00000384159:Q744P	ENSP00000295749:Q744P	Q	-	2	0	CWC22	180518597	0.176000	0.23096	0.688000	0.30117	0.274000	0.26718	0.720000	0.25896	0.871000	0.35750	0.533000	0.62120	CAA		0.393	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		7	117	0	0	0	1	0	7	117				
C17orf78	284099	broad.mit.edu	37	17	35733066	35733066	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:35733066T>C	ENST00000300618.4	+	1	82	c.32T>C	c.(31-33)aTt>aCt	p.I11T	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	11						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCCTAATCATTGCATCCTAT	0.463																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(31-33)aTt>aCt		chromosome 17 open reading frame 78							131.0	130.0	130.0					17																	35733066		2013	4184	6197	SO:0001583	missense	284099					integral to membrane		g.chr17:35733066T>C	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.32T>C	17.37:g.35733066T>C	ENSP00000300618:p.Ile11Thr					ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000416895.1_Intron	p.I11T	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			1	82	+		Breast(25;0.00295)|Ovarian(249;0.15)	11					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.32T>C	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.627063	0.46840	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.54866	0.55	5.79	2.45	0.29901	.	0.474289	0.19907	N	0.103369	T	0.40196	0.1107	L	0.34521	1.04	0.26560	N	0.97375	B;B	0.30851	0.297;0.093	B;B	0.34779	0.189;0.047	T	0.36792	-0.9733	10	0.72032	D	0.01	-6.915	6.5576	0.22469	0.0:0.2708:0.0:0.7292	.	11;11	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	T	11	ENSP00000300618:I11T	ENSP00000300618:I11T	I	+	2	0	C17orf78	32807179	0.991000	0.36638	0.948000	0.38648	0.965000	0.64279	0.879000	0.28146	0.479000	0.27511	0.482000	0.46254	ATT		0.463	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		31	82	0	0	0	1	0	31	82				
CXorf40B	541578	broad.mit.edu	37	X	149101909	149101909	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:149101909C>T	ENST00000370406.3	-	4	1012	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(184-186)Ggg>Agg		chromosome X open reading frame 40B							186.0	171.0	177.0					X																	149101909		2200	4300	6500	SO:0001583	missense	541578							g.chrX:149101909C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.184G>A	X.37:g.149101909C>T	ENSP00000359434:p.Gly62Arg					CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R	p.G62R			Q96DE9	CX04B_HUMAN			4	1012	-	Acute lymphoblastic leukemia(192;6.56e-05)		62						Missense_Mutation	SNP	ENST00000370406.3	37	c.184G>A	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.498953	0.44455	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	3.24	2.36	0.29203	PUA-like domain (1);	0.104536	0.64402	D	0.000004	D	0.95726	0.8610	M	0.82923	2.615	0.43480	D	0.995706	D	0.89917	1.0	D	0.67382	0.951	D	0.94304	0.7539	10	0.87932	D	0	-23.1175	8.8456	0.35168	0.0:0.8807:0.0:0.1193	.	62	Q96DE9	CX04B_HUMAN	R	62	ENSP00000417546:G62R;ENSP00000359434:G62R;ENSP00000347339:G62R;ENSP00000359432:G62R	ENSP00000347339:G62R	G	-	1	0	CXorf40B	148852567	0.004000	0.15560	0.001000	0.08648	0.172000	0.22775	1.298000	0.33412	0.247000	0.21414	0.456000	0.33151	GGG		0.562	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		45	218	0	0	0	1	0	45	218				
OOSP2	219990	broad.mit.edu	37	11	59807955	59807955	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:59807955T>C	ENST00000278855.2	+	1	208	c.23T>C	c.(22-24)cTc>cCc	p.L8P	PLAC1L_ENST00000532905.1_5'Flank	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		8						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GTCTTGATGCTCCTCGCTGTC	0.458																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(22-24)cTc>cCc									208.0	176.0	187.0					11																	59807955		2201	4295	6496	SO:0001583	missense	0					extracellular region		g.chr11:59807955T>C																												ENST00000278855.2:c.23T>C	11.37:g.59807955T>C	ENSP00000278855:p.Leu8Pro						p.L8P	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			1	208	+			8					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.23T>C	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249473	0.22880	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.5	2.32	0.28847	.	1.065900	0.07481	N	0.903892	T	0.49372	0.1553	L	0.48642	1.525	0.26884	N	0.967481	D	0.58620	0.983	P	0.57468	0.821	T	0.32107	-0.9919	9	0.54805	T	0.06	-0.141	5.7881	0.18345	0.2495:0.0:0.0:0.7505	.	8	Q86WS3	PLACL_HUMAN	P	8	.	ENSP00000278855:L8P	L	+	2	0	PLAC1L	59564531	0.033000	0.19621	0.345000	0.25642	0.003000	0.03518	1.280000	0.33202	0.647000	0.30713	0.460000	0.39030	CTC		0.458	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			98	206	0	0	0	1	0	98	206				
PPARG	5468	broad.mit.edu	37	3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:12475550C>T	ENST00000287820.6	+	7	1545	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000397026.2_Missense_Mutation_p.T453M|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				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)	CAGATTGTCACGGAACACGTG	0.527			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				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	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1357-1359)aCg>aTg		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						82.0	73.0	76.0					3																	12475550		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.chr3:12475550C>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.1424C>T	3.37:g.12475550C>T	ENSP00000287820:p.Thr475Met					PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M	p.T453M			P37231	PPARG_HUMAN			9	1741	+			475			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1358C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759437	0.89932	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98581	1.0650	10	0.62326	D	0.03	.	19.6973	0.96031	0.0:1.0:0.0:0.0	.	475	P37231	PPARG_HUMAN	M	447;447;447;447;453;475	ENSP00000380205:T447M;ENSP00000312472:T447M;ENSP00000380210:T447M;ENSP00000380207:T447M;ENSP00000380221:T453M;ENSP00000287820:T475M	ENSP00000287820:T475M	T	+	2	0	PPARG	12450550	1.000000	0.71417	0.847000	0.33407	0.969000	0.65631	7.776000	0.85560	2.657000	0.90304	0.650000	0.86243	ACG		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		30	164	0	0	0	1	0	30	164				
OPN3	23596	broad.mit.edu	37	1	241753558	241753558	+	IGR	DEL	A	A	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:241753558delA	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366559.4_Frame_Shift_Del_p.Q418fs	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGCATTGGCAAAAAAAGGTT	0.313																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1252-1254)cafs		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							95.0	98.0	97.0					1																	241753558		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753558delA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753558delA						KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs	p.Q418fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1564	+	Ovarian(103;0.103)|all_lung(81;0.23)		418					Q8IX08|Q9Y344	Frame_Shift_Del	DEL	ENST00000366554.2	37	c.1253delA	CCDS31072.1																																																																																				0.313	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		7	213						7	213	---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198571649	198571650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198571649_198571650insA	ENST00000282276.6	+	1	1563_1564	c.1520_1521insA	c.(1519-1524)ggtactfs	p.T508fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	508					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTGGCTGGGTACTGTGCTTC	0.569																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1519-1521)gacfs		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571649_198571650insA	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	Exception_encountered	2.37:g.198571649_198571650insA	ENSP00000282276:p.Thr508fs					AC011997.1_ENST00000409845.1_Intron	p.D507fs	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1563_1564	+			507					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Frame_Shift_Ins	INS	ENST00000282276.6	37	c.1520_1521insA	CCDS33358.1																																																																																				0.569	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		15	277						15	277	---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50378177	50378177	+	IGR	DEL	C	C	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:50378177delC	ENST00000231749.3	-	0	2896				ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000359365.4_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000395126.3_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10						inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCGGCCCTTCCCAGCGCGCC	0.741										TSP Lung(30;0.18)																												ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(58-60)ggfs		Ras association (RalGDS/AF-6) domain family member 1							2.0	3.0	3.0					3																	50378177		1568	3461	5029	SO:0001628	intergenic_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50378177delC	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874		3.37:g.50378177delC						RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_5'UTR	p.G20fs	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	1	166	-			20			Mediates interaction with E4F1.		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Del	DEL	ENST00000231749.3	37	c.60delG	CCDS2825.1																																																																																				0.741	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		2	4						2	4	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1162-1164)afs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389462_1389463delCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1163_1164delCG	4.37:g.1389462_1389463delCG	ENSP00000323978:p.Thr388fs						p.T388fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4123_4124	+			388			Interaction with PAK1.		Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1163_1164delCG	CCDS3349.1																																																																																				0.624	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	338						7	338	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523104	32523104	+	RNA	DEL	T	T	-	rs148829209|rs139174913		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:32523104delT	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		cctggaagagttttttgattc	0.343																																						ENST00000411500.1																			0																																																			0							g.chr6:32523104delT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523104delT								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.343	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	4						2	4	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	8	384						8	384	---	---	---	---
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			5	1						5	1	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21186296	21186297	+	RNA	INS	-	-	A	rs11478463	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:21186296_21186297insA	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							aatttttatttaaaaaaaaaaa	0.426																																						ENST00000591761.1																			0																																																			0							g.chr20:21186296_21186297insA																													20.37:g.21186307_21186307dupA						RP4-777D9.2_ENST00000433213.2_RNA|RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA								0	231	-									RNA	INS	ENST00000591761.1	37																																																																																						0.426	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	2						3	2	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937867	76937876	+	Frame_Shift_Del	DEL	AGCCATCCTG	AGCCATCCTG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:76937867_76937876delAGCCATCCTG	ENST00000373344.5	-	9	3086_3095	c.2872_2881delCAGGATGGCT	c.(2872-2883)caggatggcttafs	p.QDGL958fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	958					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATATCAGATAAGCCATCCTGTACTTTTTTA	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2872-2883)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937867_76937876delAGCCATCCTG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2872_2881delCAGGATGGCT	X.37:g.76937867_76937876delAGCCATCCTG	ENSP00000362441:p.Gln958fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs	p.QDGL958fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3086_3095	-			958					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2872_2881delCAGGATGGCT	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		10	492						10	492	---	---	---	---
