#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPATCH3	63906	broad.mit.edu	37	1	27226589	27226589	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:27226589C>G	ENST00000361720.5	-	1	368	c.345G>C	c.(343-345)caG>caC	p.Q115H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	115							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GAATAAGCCTCTGAGCTTGAG	0.622																																						uc001bne.2		NA																	0					0						c.(343-345)CAG>CAC		G patch domain containing 3							71.0	74.0	73.0					1																	27226589		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27226589C>G	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.345G>C	1.37:g.27226589C>G	ENSP00000354645:p.Gln115His					GPATCH3_uc009vsp.1_Intron	p.Q115H	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	374	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	115					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.345G>C	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827562	0.32329	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.31247	1.5	5.36	4.45	0.53987	.	0.171732	0.52532	D	0.000066	T	0.23806	0.0576	L	0.40543	1.245	0.33625	D	0.605256	P	0.45283	0.855	B	0.41510	0.359	T	0.35251	-0.9796	10	0.36615	T	0.2	-19.2097	7.3147	0.26493	0.0:0.7413:0.1704:0.0883	.	115	Q96I76	GPTC3_HUMAN	H	115	ENSP00000354645:Q115H	ENSP00000354645:Q115H	Q	-	3	2	GPATCH3	27099176	0.829000	0.29322	0.894000	0.35097	0.409000	0.31022	1.197000	0.32211	1.467000	0.48044	0.655000	0.94253	CAG		0.622	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		42	84	0	0	0	0	42	84				
OSCP1	127700	broad.mit.edu	37	1	36904426	36904426	+	Silent	SNP	G	G	A	rs139567315	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:36904426G>A	ENST00000356637.5	-	3	291	c.228C>T	c.(226-228)gcC>gcT	p.A76A	OSCP1_ENST00000235532.5_Silent_p.A66A|OSCP1_ENST00000315643.9_Silent_p.A76A|OSCP1_ENST00000354267.3_Silent_p.A66A|OSCP1_ENST00000433045.2_Silent_p.A21A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	76					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CAGTCCTCAGGGCCTTCTTGG	0.473																																						uc001cap.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(226-228)GCC>GCT		oxidored-nitro domain-containing protein isoform		G	,	1,4405	2.1+/-5.4	0,1,2202	101.0	97.0	99.0		198,198	4.9	1.0	1	dbSNP_134	99	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	OSCP1	NM_145047.4,NM_206837.2	,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,	66/380,66/224	36904426	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	127700				transport	basal plasma membrane		g.chr1:36904426G>A		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.228C>T	1.37:g.36904426G>A						OSCP1_uc001caq.2_Silent_p.A66A|OSCP1_uc001car.2_Silent_p.A66A	p.A76A	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			3	310	-			76					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Silent	SNP	ENST00000356637.5	37	c.228C>T																																																																																					0.473	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		28	63	0	0	0	0	28	63				
NDC1	55706	broad.mit.edu	37	1	54275387	54275387	+	Missense_Mutation	SNP	T	T	C	rs140272518		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:54275387T>C	ENST00000371429.3	-	7	1334	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.M131V|NDC1_ENST00000540001.1_Missense_Mutation_p.M246V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	246					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TGAAGGTTCATAGCAGTGCTA	0.308																																						uc001cvs.2		NA																	0				ovary(1)|pancreas(1)	2						c.(736-738)ATG>GTG		transmembrane protein 48		T	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	71.0	78.0	75.0		616,736	3.7	1.0	1	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense	TMEM48	NM_001168551.1,NM_018087.4	21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	206/635,246/675	54275387	1,13005	2203	4300	6503	SO:0001583	missense	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54275387T>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.736A>G	1.37:g.54275387T>C	ENSP00000360483:p.Met246Val					TMEM48_uc010onu.1_Missense_Mutation_p.M206V|TMEM48_uc001cvt.2_Missense_Mutation_p.M123V|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR	p.M246V	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			7	977	-			246			Helical; Name=5; (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.736A>G	CCDS583.1	.	.	.	.	.	.	.	.	.	.	T	9.125	1.009842	0.19277	2.27E-4	0.0	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.41065	1.01;1.01;1.01	4.86	3.71	0.42584	.	0.158281	0.56097	D	0.000023	T	0.26268	0.0641	N	0.22421	0.69	0.26859	N	0.967995	B;B	0.25390	0.125;0.12	B;B	0.27887	0.084;0.078	T	0.17992	-1.0351	10	0.17369	T	0.5	.	9.0527	0.36385	0.0:0.0:0.3834:0.6165	.	206;246	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	246;246;246;131	ENSP00000360483:M246V;ENSP00000440873:M246V;ENSP00000234725:M131V	ENSP00000234725:M131V	M	-	1	0	TMEM48	54047975	0.990000	0.36364	0.999000	0.59377	0.957000	0.61999	1.072000	0.30678	0.867000	0.35654	0.524000	0.50904	ATG		0.308	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		45	44	0	0	0	0	45	44				
FAM151A	338094	broad.mit.edu	37	1	55078320	55078320	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:55078320G>T	ENST00000302250.2	-	5	799	c.639C>A	c.(637-639)ttC>ttA	p.F213L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.F213L	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	213						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGACATGTAGAAGGTGGTCC	0.567																																						uc001cxn.2		NA																	0					0						c.(637-639)TTC>TTA		hypothetical protein LOC338094							121.0	101.0	108.0					1																	55078320		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55078320G>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.639C>A	1.37:g.55078320G>T	ENSP00000306888:p.Phe213Leu					ACOT11_uc001cxm.1_Intron	p.F213L	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			5	771	-			213					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.639C>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.750070	0.03041	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.10477	2.87;2.87	4.34	0.0142	0.14099	.	0.497544	0.18157	N	0.149907	T	0.02380	0.0073	N	0.00483	-1.445	0.24045	N	0.996061	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	10	0.18710	T	0.47	-8.9498	7.8269	0.29320	0.1683:0.5106:0.3211:0.0	.	213	Q8WW52	F151A_HUMAN	L	213	ENSP00000306888:F213L;ENSP00000360353:F213L	ENSP00000294370:F213L	F	-	3	2	FAM151A	54850908	0.250000	0.23951	0.187000	0.23214	0.259000	0.26198	0.050000	0.14120	-0.067000	0.12976	0.462000	0.41574	TTC		0.567	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		16	76	1	0	6.94e-10	7.39e-10	16	76				
RPRD2	23248	broad.mit.edu	37	1	150390094	150390095	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390094_150390095TC>AG	ENST00000369068.4	+	2	232_233	c.228_229TC>AG	c.(226-231)aaTCtc>aaAGtc	p.76_77NL>KV	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.76_77NL>KV|RPRD2_ENST00000539519.1_Missense_Mutation_p.76_77NL>KV|RPRD2_ENST00000369067.3_Missense_Mutation_p.76_77NL>KV	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	76	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTTTGAATCTCTTTTACCT	0.361																																						uc009wlr.2		NA																	0				ovary(1)	1						c.(226-231)AATCTC>AAAGTC		Regulation of nuclear pre-mRNA domain containing																																				SO:0001583	missense	23248						protein binding	g.chr1:150390094_150390095TC>AG	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	Exception_encountered	1.37:g.150390094_150390095delinsAG	ENSP00000358064:p.N76_L77delinsKV					RPRD2_uc010pcc.1_Missense_Mutation_p.76_77NL>KV|RPRD2_uc001eup.3_Missense_Mutation_p.76_77NL>KV	p.76_77NL>KV	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			2	429_430	+			76_77			CID.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	DNP	ENST00000369068.4	37	c.228_229TC>AG	CCDS44216.1																																																																																				0.361	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		81	207	0	0	0	0	81	207				
ACBD6	84320	broad.mit.edu	37	1	180471245	180471245	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:180471245G>T	ENST00000367595.3	-	1	844	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	53	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.					cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGGCCTTGCAGGTGCGCGGCA	0.602																																						uc001gog.2		NA																	0				ovary(1)	1						c.(157-159)CTG>ATG		acyl-coenzyme A binding domain containing 6							38.0	37.0	37.0					1																	180471245		2203	4300	6503	SO:0001583	missense	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180471245G>T	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.157C>A	1.37:g.180471245G>T	ENSP00000356567:p.Leu53Met						p.L53M	NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN			1	778	-			53			ACB.			Missense_Mutation	SNP	ENST00000367595.3	37	c.157C>A	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392412	0.25118	.	.	ENSG00000135847	ENST00000367595	T	0.24908	1.83	4.9	1.96	0.26148	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.234402	0.34725	N	0.003734	T	0.30823	0.0777	L	0.41824	1.3	0.42380	D	0.992487	B	0.31769	0.339	P	0.49799	0.622	T	0.11743	-1.0575	10	0.39692	T	0.17	-1.4265	6.6294	0.22849	0.1698:0.4139:0.4164:0.0	.	53	Q9BR61	ACBD6_HUMAN	M	53	ENSP00000356567:L53M	ENSP00000356567:L53M	L	-	1	2	ACBD6	178737868	0.987000	0.35691	0.522000	0.27862	0.078000	0.17371	1.064000	0.30579	0.256000	0.21614	-0.671000	0.03813	CTG		0.602	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		32	10	1	0	6.51e-10	6.95e-10	32	10				
PCNXL2	80003	broad.mit.edu	37	1	233275516	233275516	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:233275516C>G	ENST00000258229.9	-	20	3837	c.3603G>C	c.(3601-3603)ttG>ttC	p.L1201F	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.L334F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1201						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGGGCATTCAAAATTAGCG	0.358																																						uc001hvl.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(3601-3603)TTG>TTC		pecanex-like 2							50.0	47.0	48.0					1																	233275516		1833	4080	5913	SO:0001583	missense	80003					integral to membrane		g.chr1:233275516C>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3603G>C	1.37:g.233275516C>G	ENSP00000258229:p.Leu1201Phe					PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.L1201F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			20	3838	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1201			Helical; (Potential).		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3603G>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066975	0.76301	.	.	ENSG00000135749	ENST00000258229;ENST00000484347;ENST00000488780	T	0.12774	2.65	5.74	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.43299	0.1241	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.53251	-0.8465	10	0.87932	D	0	.	16.7806	0.85562	0.0:0.871:0.129:0.0	.	1201	A6NKB5	PCX2_HUMAN	F	1201;37;334	ENSP00000258229:L1201F	ENSP00000258229:L1201F	L	-	3	2	PCNXL2	231342139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.961000	0.40432	1.394000	0.46624	0.655000	0.94253	TTG		0.358	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		6	21	0	0	0	0	6	21				
ZMYND11	10771	broad.mit.edu	37	10	294288	294288	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:294288G>A	ENST00000397962.3	+	13	1668	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ZMYND11_ENST00000381607.4_Missense_Mutation_p.E320K|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E414K|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E413K|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E329K|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E209K|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E414K|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E329K|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E294K|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E397K|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E334K|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E383K			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	414					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGAGCCTGAAACAGAAGC	0.448																																						uc010pzt.1		NA																	0					0						c.(1240-1242)GAA>AAA		zinc finger, MYND domain containing 11 isoform							111.0	111.0	111.0					10																	294288		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294288G>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1240G>A	10.37:g.294288G>A	ENSP00000381053:p.Glu414Lys					ZMYND11_uc001ifk.2_Missense_Mutation_p.E413K|ZMYND11_uc010pzu.1_Missense_Mutation_p.E414K|ZMYND11_uc010pzv.1_Missense_Mutation_p.E359K|ZMYND11_uc010pzw.1_Missense_Mutation_p.E329K|ZMYND11_uc001ifm.2_Missense_Mutation_p.E360K|ZMYND11_uc010pzx.1_Missense_Mutation_p.E414K|ZMYND11_uc001ifn.2_Missense_Mutation_p.E360K|ZMYND11_uc009xhg.2_Missense_Mutation_p.E397K|ZMYND11_uc009xhh.2_Missense_Mutation_p.E288K|ZMYND11_uc010pzy.1_Missense_Mutation_p.E266K	p.E414K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1668	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	374					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1240G>A	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839045	0.51057	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.097194	0.64402	D	0.000001	T	0.60856	0.2301	N	0.24115	0.695	0.42281	D	0.992090	D;B;P;B;P;P;P;D;D;P	0.58620	0.983;0.184;0.787;0.15;0.85;0.956;0.85;0.979;0.979;0.85	P;B;B;B;B;D;B;P;P;B	0.65010	0.606;0.1;0.157;0.041;0.313;0.931;0.293;0.525;0.525;0.293	T	0.48885	-0.8995	8	0.06236	T	0.91	-28.7637	20.5827	0.99408	0.0:0.0:1.0:0.0	.	374;414;329;359;414;334;343;360;360;383	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	K	414;374;374;414;329;414;334;320;383;374;397;294;209	.	ENSP00000309992:E374K	E	+	1	0	ZMYND11	284288	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	9.544000	0.98092	2.941000	0.99782	0.655000	0.94253	GAA		0.448	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		51	129	0	0	0	0	51	129				
SFMBT2	57713	broad.mit.edu	37	10	7239538	7239538	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:7239538G>A	ENST00000361972.4	-	15	1760	c.1670C>T	c.(1669-1671)cCg>cTg	p.P557L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P557L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATTTGCCCGGTCCCACCGA	0.478																																						uc009xio.1		NA																	0		p.P557P(1)		ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1669-1671)CCG>CTG		Scm-like with four mbt domains 2							118.0	111.0	113.0					10																	7239538		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239538G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1670C>T	10.37:g.7239538G>A	ENSP00000355109:p.Pro557Leu					SFMBT2_uc001ijn.1_Missense_Mutation_p.P557L|SFMBT2_uc010qay.1_Intron	p.P557L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			15	1761	-			557					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1670C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948163	0.92593	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.54479	0.57;0.57	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77563	-0.2541	10	0.87932	D	0	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	557	Q5VUG0	SMBT2_HUMAN	L	557	ENSP00000355109:P557L;ENSP00000380353:P557L	ENSP00000355109:P557L	P	-	2	0	SFMBT2	7279544	1.000000	0.71417	0.942000	0.38095	0.925000	0.55904	9.707000	0.98725	2.355000	0.79922	0.557000	0.71058	CCG		0.478	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		25	90	0	0	0	0	25	90				
CTNNA3	29119	broad.mit.edu	37	10	68280411	68280411	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:68280411C>T	ENST00000433211.2	-	11	1669	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D499N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTGTAATGTCATCTACGGCT	0.343																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1495-1497)GAC>AAC		catenin, alpha 3							191.0	166.0	174.0					10																	68280411		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68280411C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1495G>A	10.37:g.68280411C>T	ENSP00000389714:p.Asp499Asn					CTNNA3_uc001jmw.2_Missense_Mutation_p.D499N|CTNNA3_uc001jmx.3_Missense_Mutation_p.D499N	p.D499N	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			11	1618	-			499						Missense_Mutation	SNP	ENST00000433211.2	37	c.1495G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496178	0.85069	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.39787	1.06;1.06	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000015	T	0.47581	0.1453	M	0.73962	2.25	0.80722	D	1	B;P	0.37038	0.116;0.579	B;B	0.37304	0.049;0.246	T	0.47935	-0.9078	10	0.39692	T	0.17	-21.0799	17.0907	0.86621	0.0:1.0:0.0:0.0	.	499;499	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	N	499	ENSP00000389714:D499N;ENSP00000362849:D499N	ENSP00000362849:D499N	D	-	1	0	CTNNA3	67950417	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.689000	0.84165	2.718000	0.92993	0.650000	0.86243	GAC		0.343	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		39	118	0	0	0	0	39	118				
USP54	159195	broad.mit.edu	37	10	75279642	75279642	+	Missense_Mutation	SNP	C	C	T	rs143471997		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:75279642C>T	ENST00000339859.4	-	18	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	USP54_ENST00000408019.1_Missense_Mutation_p.R864H|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.R46H|USP54_ENST00000394811.2_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_Intron|USP54_ENST00000428547.1_Missense_Mutation_p.R714H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	864					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTGCTGCATGCGATCCTGCAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		16782	0.0		0.001	False		,,,				2504	0.0				Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(2590-2592)CGC>CAC		ubiquitin specific peptidase 54							49.0	55.0	53.0					10																	75279642		2159	4278	6437	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75279642C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2591G>A	10.37:g.75279642C>T	ENSP00000345216:p.Arg864His					USP54_uc010qkk.1_Missense_Mutation_p.R46H|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Missense_Mutation_p.R864H	p.R864H	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			17	2608	-	Prostate(51;0.0112)		864					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2591G>A	CCDS7329.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	31	5.064149	0.93898	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000422491	T;T;T;T	0.63255	1.58;1.58;1.58;-0.03	6.03	6.03	0.97812	.	0.505296	0.18436	U	0.141285	T	0.78910	0.4358	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.78152	-0.2315	10	0.87932	D	0	-8.2248	20.5753	0.99366	0.0:1.0:0.0:0.0	.	46;864;864	E7EW90;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	H	864;864;714;46	ENSP00000345216:R864H;ENSP00000386080:R864H;ENSP00000408714:R714H;ENSP00000407368:R46H	ENSP00000345216:R864H	R	-	2	0	USP54	74949648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.785000	0.55424	2.868000	0.98415	0.557000	0.71058	CGC		0.577	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		3	40	0	0	0	0	3	40				
ATHL1	80162	broad.mit.edu	37	11	294141	294141	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:294141C>T	ENST00000409548.2	+	12	1868	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ATHL1_ENST00000409479.1_Silent_p.L612L|ATHL1_ENST00000409655.1_Silent_p.L337L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	585					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGAACTTCCTGACAGGCAT	0.667																																						uc010qvu.1		NA																	0				liver(1)|central_nervous_system(1)|skin(1)	3						c.(1753-1755)CTG>TTG		ATH1, acid trehalase-like 1							95.0	92.0	93.0					11																	294141		2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294141C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1753C>T	11.37:g.294141C>T						ATHL1_uc001lor.3_Silent_p.L337L|ATHL1_uc001lou.3_Silent_p.L160L|ATHL1_uc001lov.3_Silent_p.L46L	p.L585L	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	12	1868	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	585					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.1753C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264165	0.23136	.	.	ENSG00000142102	ENST00000397660	.	.	.	4.52	2.6	0.31112	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	-8.4625	9.3996	0.38424	0.0:0.8186:0.0:0.1814	.	.	.	.	L	63	.	.	P	+	2	0	ATHL1	284141	0.999000	0.42202	0.997000	0.53966	0.962000	0.63368	0.679000	0.25291	0.447000	0.26695	0.491000	0.48974	CCT		0.667	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		33	98	0	0	0	0	33	98				
AP2A2	161	broad.mit.edu	37	11	988626	988626	+	Silent	SNP	A	A	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:988626A>T	ENST00000448903.2	+	10	1347	c.1206A>T	c.(1204-1206)ccA>ccT	p.P402P	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.P403P	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	402					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACGCCCCACAGATCGTGG	0.607																																						uc001lss.2		NA																	0					0						c.(1204-1206)CCA>CCT		adaptor-related protein complex 2, alpha 2							101.0	113.0	109.0					11																	988626		2160	4269	6429	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:988626A>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1206A>T	11.37:g.988626A>T						AP2A2_uc001lst.1_Silent_p.P403P|AP2A2_uc009yco.1_RNA	p.P402P	NM_012305	NP_036437	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	10	1387	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	402					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1206A>T	CCDS44512.1																																																																																				0.607	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		43	112	0	0	0	0	43	112				
AMBRA1	55626	broad.mit.edu	37	11	46419246	46419246	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46419246C>A	ENST00000458649.2	-	18	4069	c.3651G>T	c.(3649-3651)gaG>gaT	p.E1217D	AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1188D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1157D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1157D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1188D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1127D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1098D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1217					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGCCCGGCCTCTGGGAGCA	0.687																																						uc010rgu.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3649-3651)GAG>GAT		activating molecule in beclin-1-regulated							51.0	52.0	52.0					11																	46419246		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419246C>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3651G>T	11.37:g.46419246C>A	ENSP00000415327:p.Glu1217Asp					AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.E1188D|AMBRA1_uc001ncu.1_Missense_Mutation_p.E1127D|AMBRA1_uc001ncv.2_Missense_Mutation_p.E1220D|AMBRA1_uc001ncw.2_Missense_Mutation_p.E1098D|AMBRA1_uc001ncx.2_Missense_Mutation_p.E1157D	p.E1217D	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4011	-			1217					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3651G>T		.	.	.	.	.	.	.	.	.	.	C	13.49	2.253855	0.39896	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.72835	-0.52;-0.69;-0.29;-0.42;-0.29;-0.38;-0.42	5.24	-2.94	0.05581	.	0.195482	0.44688	D	0.000425	T	0.54581	0.1867	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.30605	0.034;0.058;0.058;0.058;0.287;0.058	B;B;B;B;B;B	0.32805	0.019;0.042;0.042;0.042;0.153;0.042	T	0.52953	-0.8506	10	0.87932	D	0	.	16.0473	0.80727	0.0:0.7279:0.0:0.2721	.	1217;1188;1157;1098;1220;1127	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	1127;1098;1157;1188;1157;1217;175;1188	ENSP00000318313:E1127D;ENSP00000433372:E1098D;ENSP00000431926:E1157D;ENSP00000410899:E1188D;ENSP00000298834:E1157D;ENSP00000415327:E1217D;ENSP00000433945:E1188D	ENSP00000298834:E1157D	E	-	3	2	AMBRA1	46375822	0.056000	0.20664	0.012000	0.15200	0.542000	0.35054	-0.168000	0.09925	-0.449000	0.07117	-0.367000	0.07326	GAG		0.687	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		24	251	1	0	3.8e-18	4.12e-18	24	251				
LRP4	4038	broad.mit.edu	37	11	46898081	46898081	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46898081G>A	ENST00000378623.1	-	25	3714	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1158					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGCATGGACCCG	0.577																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3472-3474)CGG>TGG		low density lipoprotein receptor-related protein							163.0	141.0	148.0					11																	46898081		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898081G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3472C>T	11.37:g.46898081G>A	ENSP00000367888:p.Arg1158Trp						p.R1158W	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	25	3618	-			1158			Extracellular (Potential).|LDL-receptor class B 12.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3472C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923710	0.73213	.	.	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.09	1.54	0.23209	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98887	0.9623	H	0.97291	3.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	13.6442	0.62270	0.0:0.0:0.4536:0.5464	.	1158	O75096	LRP4_HUMAN	W	1158	ENSP00000367888:R1158W	ENSP00000367888:R1158W	R	-	1	2	LRP4	46854657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.237000	0.32695	0.613000	0.30089	0.561000	0.74099	CGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		63	298	0	0	0	0	63	298				
BSCL2	26580	broad.mit.edu	37	11	62457910	62457910	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:62457910G>A	ENST00000403550.1	-	11	1549	c.1126C>T	c.(1126-1128)Cta>Tta	p.L376L	BSCL2_ENST00000360796.5_Silent_p.L440L|BSCL2_ENST00000421906.1_Silent_p.L376L|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000407022.3_Silent_p.L376L|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000433053.1_Silent_p.L440L|BSCL2_ENST00000405837.1_Silent_p.L442L			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	376					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AGAGTCTCTAGGACAGGGGCA	0.607																																						uc001nuo.1		NA																	0					0						c.(1126-1128)CTA>TTA		seipin isoform 2							48.0	47.0	48.0					11																	62457910		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62457910G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.1126C>T	11.37:g.62457910G>A						LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_3'UTR|BSCL2_uc001nup.2_Silent_p.L376L|BSCL2_uc001nuq.1_Silent_p.L376L|BSCL2_uc001nur.3_Silent_p.L440L|BSCL2_uc009yod.2_Silent_p.L440L|BSCL2_uc001nut.3_Silent_p.L442L|HNRNPUL2_uc001nuu.1_RNA	p.L376L	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			11	1550	-			376			Cytoplasmic (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.1126C>T	CCDS8031.1																																																																																				0.607	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		22	80	0	0	0	0	22	80				
ESRRA	2101	broad.mit.edu	37	11	64074712	64074712	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64074712G>A	ENST00000405666.1	+	2	295	c.61G>A	c.(61-63)Gac>Aac	p.D21N	RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000000442.6_Missense_Mutation_p.D21N|ESRRA_ENST00000406310.1_Missense_Mutation_p.D21N	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	21	Repressor domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGCCAGCCCTGACAGTCCAAA	0.642																																						uc001nzq.1		NA																	0					0						c.(61-63)GAC>AAC		estrogen-related receptor alpha							47.0	53.0	51.0					11																	64074712		2060	4195	6255	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64074712G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.61G>A	11.37:g.64074712G>A	ENSP00000384851:p.Asp21Asn					ESRRA_uc001nzr.1_Missense_Mutation_p.D21N|ESRRA_uc001nzs.1_Missense_Mutation_p.D21N	p.D21N	NM_004451	NP_004442	P11474	ERR1_HUMAN			2	238	+			21			Repressor domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.61G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133682	0.77662	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000405666;ENST00000468670	D;D;D;D	0.95412	-2.89;-2.94;-2.94;-3.7	4.3	4.3	0.51218	.	0.055344	0.64402	D	0.000001	D	0.87947	0.6306	N	0.14661	0.345	0.46901	D	0.999248	B;P	0.40875	0.183;0.731	B;B	0.34093	0.015;0.175	D	0.87332	0.2325	10	0.15499	T	0.54	.	14.6596	0.68861	0.0:0.0:1.0:0.0	.	21;21	P11474-2;P11474	.;ERR1_HUMAN	N	21	ENSP00000385971:D21N;ENSP00000000442:D21N;ENSP00000384851:D21N;ENSP00000441970:D21N	ENSP00000000442:D21N	D	+	1	0	ESRRA	63831288	1.000000	0.71417	0.978000	0.43139	0.402000	0.30811	5.006000	0.63978	2.399000	0.81585	0.462000	0.41574	GAC		0.642	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		21	55	0	0	0	0	21	55				
IGHMBP2	3508	broad.mit.edu	37	11	68696768	68696768	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:68696768G>T	ENST00000255078.3	+	8	1289	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	393	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGAAGGCCAGAAAGTGCATC	0.627																																						uc001ook.1		NA																	0					0						c.(1177-1179)AGA>ATA		immunoglobulin mu binding protein 2							99.0	88.0	92.0					11																	68696768		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696768G>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1178G>T	11.37:g.68696768G>T	ENSP00000255078:p.Arg393Ile					IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank	p.R393I	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1280	+			393			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1178G>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096921	0.56075	.	.	ENSG00000132740	ENST00000255078	D	0.84070	-1.8	4.98	4.05	0.47172	DEAD-like helicase (1);	0.218004	0.38111	N	0.001815	D	0.87330	0.6150	M	0.83483	2.645	0.23926	N	0.996445	B	0.33171	0.4	P	0.49361	0.608	T	0.80070	-0.1536	10	0.48119	T	0.1	-17.3824	5.1918	0.15214	0.1756:0.1896:0.6348:0.0	.	393	P38935	SMBP2_HUMAN	I	393	ENSP00000255078:R393I	ENSP00000255078:R393I	R	+	2	0	IGHMBP2	68453344	0.467000	0.25831	0.485000	0.27403	0.626000	0.37791	2.374000	0.44274	1.053000	0.40415	0.655000	0.94253	AGA		0.627	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		26	106	1	0	4.88e-14	5.24e-14	26	106				
REXO2	25996	broad.mit.edu	37	11	114314649	114314649	+	Silent	SNP	C	C	T	rs151260750		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:114314649C>T	ENST00000265881.5	+	3	446	c.303C>T	c.(301-303)caC>caT	p.H101H	RP11-212D19.4_ENST00000544347.1_3'UTR|REXO2_ENST00000539275.1_Intron|REXO2_ENST00000538791.1_5'Flank|REXO2_ENST00000539754.1_Silent_p.H101H	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	101	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AGGAGCATCACGGGAAGGTAA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20129	0.0		0.001	False		,,,				2504	0.0					uc001poy.2		NA																	0					0						c.(301-303)CAC>CAT		small fragment nuclease precursor		C		0,4402		0,0,2201	117.0	91.0	100.0		303	-0.4	1.0	11	dbSNP_134	100	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	REXO2	NM_015523.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		101/238	114314649	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	25996				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding	g.chr11:114314649C>T	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.303C>T	11.37:g.114314649C>T						REXO2_uc001poz.2_Intron	p.H101H	NM_015523	NP_056338	Q9Y3B8	ORN_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)	3	446	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	101			Exonuclease.		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000265881.5	37	c.303C>T	CCDS8371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.409|5.409	0.260612|0.260612	0.10239|0.10239	0.0|0.0	1.16E-4|1.16E-4	ENSG00000076043|ENSG00000076043	ENST00000539119|ENST00000544827	.|.	.|.	.|.	5.85|5.85	-0.45|-0.45	0.12223|0.12223	.|.	.|.	.|.	.|.	.|.	T|T	0.58293|0.58293	0.2112|0.2112	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52442|0.52442	-0.8575|-0.8575	4|4	.|.	.|.	.|.	-10.3923|-10.3923	11.105|11.105	0.48197|0.48197	0.0:0.4551:0.0:0.5449|0.0:0.4551:0.0:0.5449	.|.	.|.	.|.	.|.	W|M	56|61	.|.	.|.	R|T	+|+	1|2	2|0	REXO2|REXO2	113819859|113819859	0.552000|0.552000	0.26505|0.26505	0.993000|0.993000	0.49108|0.49108	0.892000|0.892000	0.51952|0.51952	-0.277000|-0.277000	0.08502|0.08502	-0.313000|-0.313000	0.08728|0.08728	-1.264000|-1.264000	0.01445|0.01445	CGG|ACG		0.458	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		4	9	0	0	0	0	4	9				
TAS2R50	259296	broad.mit.edu	37	12	11138842	11138842	+	Silent	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:11138842G>C	ENST00000506868.1	-	1	669	c.618C>G	c.(616-618)ctC>ctG	p.L206L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GCATCTTCTTGAGATGTTTAC	0.418																																						uc001qzl.2		NA																	0				ovary(2)	2						c.(616-618)CTC>CTG		taste receptor, type 2, member 50							143.0	137.0	139.0					12																	11138842		2203	4300	6503	SO:0001819	synonymous_variant	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138842G>C	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.618C>G	12.37:g.11138842G>C						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L206L	NM_176890	NP_795371	P59544	T2R50_HUMAN			1	670	-			206			Cytoplasmic (Potential).		P59545|Q2M255|Q645Y0	Silent	SNP	ENST00000506868.1	37	c.618C>G	CCDS8638.1																																																																																				0.418	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		58	351	0	0	0	0	58	351				
C12orf60	144608	broad.mit.edu	37	12	14976229	14976229	+	Silent	SNP	G	G	A	rs575360384		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:14976229G>A	ENST00000330828.2	+	2	564	c.360G>A	c.(358-360)acG>acA	p.T120T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTGCCCATACGCCAGTCATCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19778	0.0		0.0	False		,,,				2504	0.0					uc001rcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)ACG>ACA		hypothetical protein LOC144608							157.0	154.0	155.0					12																	14976229		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14976229G>A	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.360G>A	12.37:g.14976229G>A							p.T120T	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	564	+			120					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.360G>A	CCDS8667.1																																																																																				0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		45	326	0	0	0	0	45	326				
IRAK4	51135	broad.mit.edu	37	12	44177513	44177513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:44177513G>T	ENST00000448290.2	+	10	1245	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*	IRAK4_ENST00000440781.2_Nonsense_Mutation_p.E268*|IRAK4_ENST00000551736.1_Nonsense_Mutation_p.E392*|IRAK4_ENST00000431837.1_Nonsense_Mutation_p.E268*	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGAACACCGTGAACCTCAGTT	0.303																																						uc001rnu.3		NA																	0					0						c.(1174-1176)GAA>TAA		interleukin-1 receptor-associated kinase 4							97.0	98.0	97.0					12																	44177513		2203	4300	6503	SO:0001587	stop_gained	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44177513G>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1174G>T	12.37:g.44177513G>T	ENSP00000390651:p.Glu392*					IRAK4_uc001rnt.3_Nonsense_Mutation_p.E392*|IRAK4_uc001rnx.3_Nonsense_Mutation_p.E268*|IRAK4_uc001rny.3_Nonsense_Mutation_p.E268*|IRAK4_uc010sky.1_Nonsense_Mutation_p.E268*|IRAK4_uc001rnv.3_Nonsense_Mutation_p.E268*|IRAK4_uc001rnw.3_Nonsense_Mutation_p.E268*	p.E392*	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	11	1304	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	392			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Nonsense_Mutation	SNP	ENST00000448290.2	37	c.1174G>T	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059000	0.97246	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	.	.	.	5.68	5.68	0.88126	.	0.278380	0.39615	N	0.001304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.0023	14.619	0.68572	0.0:0.0:0.8543:0.1456	.	.	.	.	X	268;268;392;392	.	ENSP00000390327:E268X	E	+	1	0	IRAK4	42463780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.862000	0.69560	2.674000	0.91012	0.655000	0.94253	GAA		0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			12	20	1	0	0.000151284	0.000155313	12	20				
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:57389924C>G	ENST00000300098.1	+	2	1150	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542																																						uc001smk.2		NA																	0				lung(1)	1						c.(931-933)CTG>GTG		G protein-coupled receptor 182							250.0	217.0	228.0					12																	57389924		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389924C>G	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.931C>G	12.37:g.57389924C>G	ENSP00000300098:p.Leu311Val					RDH16_uc010sqx.1_Intron	p.L311V	NM_007264	NP_009195	O15218	GP182_HUMAN			2	1025	+			311			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000300098.1	37	c.931C>G	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870785	0.33069	.	.	ENSG00000166856	ENST00000300098	T	0.38887	1.11	4.46	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.163489	0.41194	D	0.000936	T	0.45577	0.1349	L	0.42245	1.32	0.37034	D	0.896816	D	0.52996	0.957	P	0.52823	0.71	T	0.54002	-0.8358	10	0.52906	T	0.07	.	11.7174	0.51661	0.1783:0.8217:0.0:0.0	.	311	O15218	GP182_HUMAN	V	311	ENSP00000300098:L311V	ENSP00000300098:L311V	L	+	1	2	GPR182	55676191	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.825000	0.27393	1.186000	0.42985	0.561000	0.74099	CTG		0.542	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		10	415	0	0	0	0	10	415				
CHST11	50515	broad.mit.edu	37	12	105150982	105150982	+	Missense_Mutation	SNP	G	G	A	rs201140777		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:105150982G>A	ENST00000303694.5	+	3	899	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CHST11_ENST00000549260.1_Missense_Mutation_p.E149K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	154					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CCCGGCCAACGAGGCACACGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18969	0.0		0.001	False		,,,				2504	0.0					uc001tkx.1		NA																	0					0						c.(460-462)GAG>AAG		carbohydrate sulfotransferase 11																																				SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150982G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.460G>A	12.37:g.105150982G>A	ENSP00000305725:p.Glu154Lys					CHST11_uc001tky.2_Missense_Mutation_p.E149K|uc001tkz.2_5'Flank	p.E154K	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	751	+			154			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.460G>A	CCDS9099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.013852	0.75161	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73897	-0.79;-0.79;-0.79	5.42	5.42	0.78866	.	0.046886	0.85682	D	0.000000	T	0.72930	0.3522	L	0.55213	1.73	0.80722	D	1	P;P	0.49783	0.928;0.9	P;B	0.46629	0.522;0.419	T	0.69826	-0.5040	10	0.06757	T	0.87	-11.0558	19.2155	0.93776	0.0:0.0:1.0:0.0	.	149;154	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	K	149;154;114	ENSP00000450004:E149K;ENSP00000305725:E154K;ENSP00000449095:E114K	ENSP00000305725:E154K	E	+	1	0	CHST11	103675112	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.576000	0.74023	2.553000	0.86117	0.655000	0.94253	GAG		0.587	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		20	74	0	0	0	0	20	74				
CUX2	23316	broad.mit.edu	37	12	111744814	111744814	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:111744814C>T	ENST00000261726.6	+	11	1102	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	316					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCTGAAGGACGTGCAGCACC	0.647																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(946-948)GAC>GAT		cut-like 2							42.0	46.0	45.0					12																	111744814		1985	4165	6150	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744814C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.948C>T	12.37:g.111744814C>T							p.D316D	NM_015267	NP_056082	O14529	CUX2_HUMAN			11	1101	+			316			Potential.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.948C>T	CCDS41837.1																																																																																				0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		24	66	0	0	0	0	24	66				
PCDH17	27253	broad.mit.edu	37	13	58208360	58208360	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr13:58208360C>T	ENST00000377918.3	+	1	1706	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGGGCGCCCGCGCACTTGG	0.607																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1678-1680)CCC>CCT		protocadherin 17 precursor							39.0	41.0	40.0					13																	58208360		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208360C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1680C>T	13.37:g.58208360C>T						PCDH17_uc010aec.1_Silent_p.P560P	p.P560P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2572	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	560			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1680C>T	CCDS31986.1																																																																																				0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	42	0	0	0	0	21	42				
HEATR4	399671	broad.mit.edu	37	14	73978743	73978743	+	Missense_Mutation	SNP	G	G	A	rs139427381	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:73978743G>A	ENST00000553558.1	-	7	1846	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	HEATR4_ENST00000334988.2_Missense_Mutation_p.R509W|HEATR4_ENST00000560393.1_Missense_Mutation_p.R462W	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	509										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATCCGGGGCCGTTCCAAAGCA	0.517																																						uc010tub.1		NA																	0				ovary(1)	1						c.(1525-1527)CGG>TGG		HEAT repeat containing 4		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	163.0	137.0	146.0		1525,1525	4.8	1.0	14	dbSNP_134	146	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	HEATR4	NM_001220484.1,NM_203309.2	101,101	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging	509/1027,509/1027	73978743	9,12997	2203	4300	6503	SO:0001583	missense	399671							g.chr14:73978743G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1525C>T	14.37:g.73978743G>A	ENSP00000450444:p.Arg509Trp					HEATR4_uc010tua.1_Missense_Mutation_p.R462W	p.R509W	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	7	1847	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1525C>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963800	0.53507	0.0	0.001047	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.41065	1.01	5.72	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.374791	0.23053	N	0.052476	T	0.51652	0.1687	L	0.29908	0.895	0.29479	N	0.85651	D	0.89917	1.0	D	0.78314	0.991	T	0.52924	-0.8510	10	0.87932	D	0	-9.6183	12.8902	0.58068	0.0:0.0:0.8314:0.1685	.	509	Q86WZ0	HEAT4_HUMAN	W	509;462	ENSP00000450444:R509W	ENSP00000335447:R462W	R	-	1	2	HEATR4	73048496	0.463000	0.25799	0.994000	0.49952	0.146000	0.21551	0.482000	0.22276	1.347000	0.45714	0.655000	0.94253	CGG		0.517	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		30	126	0	0	0	0	30	126				
DYNC1H1	1778	broad.mit.edu	37	14	102478730	102478730	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102478730G>A	ENST00000360184.4	+	34	7101	c.6937G>A	c.(6937-6939)Gag>Aag	p.E2313K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2313	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGTGGGTTGAGAACTTGAA	0.502																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6937-6939)GAG>AAG		cytoplasmic dynein 1 heavy chain 1							168.0	141.0	150.0					14																	102478730		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102478730G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6937G>A	14.37:g.102478730G>A	ENSP00000348965:p.Glu2313Lys					DYNC1H1_uc001ykt.1_5'Flank	p.E2313K	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			34	7101	+			2313			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.6937G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065248	0.97251	.	.	ENSG00000197102	ENST00000360184	D	0.97089	-4.24	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98078	1.0402	10	0.87932	D	0	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	2313	Q14204	DYHC1_HUMAN	K	2313	ENSP00000348965:E2313K	ENSP00000348965:E2313K	E	+	1	0	DYNC1H1	101548483	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.807000	0.99171	2.683000	0.91414	0.655000	0.94253	GAG		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		59	101	0	0	0	0	59	101				
DYNC1H1	1778	broad.mit.edu	37	14	102504839	102504839	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102504839C>T	ENST00000360184.4	+	58	11115	c.10951C>T	c.(10951-10953)Cgt>Tgt	p.R3651C	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3651	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCTGAACCGTGAAGTGCG	0.547																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10951-10953)CGT>TGT		cytoplasmic dynein 1 heavy chain 1							86.0	80.0	82.0					14																	102504839		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102504839C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10951C>T	14.37:g.102504839C>T	ENSP00000348965:p.Arg3651Cys						p.R3651C	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			58	11115	+			3651			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10951C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545273	0.86022	.	.	ENSG00000197102	ENST00000360184	T	0.34072	1.38	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.81920	-0.0712	10	0.87932	D	0	.	15.1195	0.72432	0.0:0.9322:0.0:0.0678	.	3651	Q14204	DYHC1_HUMAN	C	3651	ENSP00000348965:R3651C	ENSP00000348965:R3651C	R	+	1	0	DYNC1H1	101574592	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.843000	0.62838	1.479000	0.48272	0.655000	0.94253	CGT		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		17	46	0	0	0	0	17	46				
SQRDL	58472	broad.mit.edu	37	15	45981253	45981253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:45981253C>G	ENST00000260324.7	+	9	1519	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.S378*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	378					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGCTACACATCATGTCCACTG	0.393																																						uc001zvt.2		NA																	0				ovary(1)	1						c.(1132-1134)TCA>TGA		sulfide dehydrogenase like precursor							142.0	148.0	146.0					15																	45981253		2198	4297	6495	SO:0001587	stop_gained	58472						oxidoreductase activity	g.chr15:45981253C>G	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1133C>G	15.37:g.45981253C>G	ENSP00000260324:p.Ser378*					SQRDL_uc001zvu.2_Nonsense_Mutation_p.S378*|SQRDL_uc001zvv.2_Nonsense_Mutation_p.S378*	p.S378*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	10	1322	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	378					Q9UQM8	Nonsense_Mutation	SNP	ENST00000260324.7	37	c.1133C>G	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	41	8.855012	0.98978	.	.	ENSG00000137767	ENST00000260324	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6565	0.91456	0.0:1.0:0.0:0.0	.	.	.	.	X	378	.	ENSP00000260324:S378X	S	+	2	0	SQRDL	43768545	1.000000	0.71417	0.594000	0.28785	0.981000	0.71138	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	TCA		0.393	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			52	224	0	0	0	0	52	224				
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398																																						uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1537-1539)CGG>CAG		ATPase class I type 8B member 4							118.0	121.0	120.0					15																	50223420		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50223420C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1538G>A	15.37:g.50223420C>T	ENSP00000284509:p.Arg513Gln					ATP8B4_uc010ber.2_Missense_Mutation_p.R386Q|ATP8B4_uc010ufd.1_Intron|ATP8B4_uc010ufe.1_RNA	p.R513Q	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	16	1680	-		all_lung(180;0.00183)	513			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1538G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000104043	ENST00000284509	T	0.72505	-0.66	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.90082	3.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89451	0.3730	10	0.87932	D	0	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	Q	513	ENSP00000284509:R513Q	ENSP00000284509:R513Q	R	-	2	0	ATP8B4	48010712	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.532000	0.81985	2.648000	0.89879	0.585000	0.79938	CGG		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		41	98	0	0	0	0	41	98				
AKAP13	11214	broad.mit.edu	37	15	86283474	86283474	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:86283474C>T	ENST00000394518.2	+	34	7674	c.7579C>T	c.(7579-7581)Cat>Tat	p.H2527Y	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2531Y|AKAP13_ENST00000394510.2_Missense_Mutation_p.H772Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2527	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGCGTTGTTCATCTCTACGA	0.468																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(7579-7581)CAT>TAT		A-kinase anchor protein 13 isoform 2							181.0	156.0	164.0					15																	86283474		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86283474C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7579C>T	15.37:g.86283474C>T	ENSP00000378026:p.His2527Tyr					AKAP13_uc002blu.1_Missense_Mutation_p.H2531Y|AKAP13_uc002blw.1_Missense_Mutation_p.H992Y|AKAP13_uc002blx.1_Missense_Mutation_p.H772Y	p.H2527Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN			34	7749	+			2527			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7579C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977936	0.34942	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.21543	2.0;2.0;2.91	5.45	4.51	0.55191	.	.	.	.	.	T	0.43122	0.1233	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.22347	-1.0219	9	0.62326	D	0.03	.	12.0104	0.53284	0.4401:0.5599:0.0:0.0	.	2527;2531	Q12802;Q12802-2	AKP13_HUMAN;.	Y	2531;2527;2530;2506;772	ENSP00000354718:H2531Y;ENSP00000378026:H2527Y;ENSP00000378018:H772Y	ENSP00000354718:H2531Y	H	+	1	0	AKAP13	84084478	0.218000	0.23608	0.109000	0.21407	0.057000	0.15508	1.932000	0.40143	1.243000	0.43853	0.563000	0.77884	CAT		0.468	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		23	68	0	0	0	0	23	68				
PDXDC1	23042	broad.mit.edu	37	16	15103580	15103580	+	Missense_Mutation	SNP	C	C	G	rs377059986	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:15103580C>G	ENST00000396410.4	+	8	788	c.691C>G	c.(691-693)Cga>Gga	p.R231G	PDXDC1_ENST00000447912.2_Missense_Mutation_p.R140G|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R204G|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R208G|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R231G|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R203G|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R249G|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R216G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	231					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGATATAGAGCGAGGAAGACT	0.418																																						uc002dda.3		NA																	0				skin(1)	1						c.(691-693)CGA>GGA		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						64.0	73.0	70.0					16																	15103580		2196	4280	6476	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15103580C>G	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.691C>G	16.37:g.15103580C>G	ENSP00000379691:p.Arg231Gly					PDXDC1_uc010uzl.1_Missense_Mutation_p.R216G|PDXDC1_uc010uzm.1_Missense_Mutation_p.R140G|PDXDC1_uc002dcz.2_Missense_Mutation_p.R208G|PDXDC1_uc002ddb.3_Missense_Mutation_p.R204G|PDXDC1_uc010uzn.1_Missense_Mutation_p.R203G|PDXDC1_uc002ddc.2_Missense_Mutation_p.R231G	p.R231G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			8	915	+			231					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.691C>G	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965628	0.18583	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.15	-0.437	0.12272	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.681743	0.14441	N	0.319381	T	0.15652	0.0377	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.24368	0.102;0.05;0.05;0.102;0.102;0.003	B;B;B;B;B;B	0.28991	0.062;0.097;0.062;0.062;0.062;0.008	T	0.16188	-1.0411	10	0.38643	T	0.18	-13.3574	1.2813	0.02041	0.3947:0.2035:0.2652:0.1366	.	203;140;231;203;231;208	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	G	216;140;231;231;203;208	ENSP00000322807:R216G;ENSP00000400310:R140G;ENSP00000437835:R231G;ENSP00000379691:R231G;ENSP00000391147:R203G;ENSP00000406703:R208G	ENSP00000322807:R216G	R	+	1	2	PDXDC1	15011081	0.002000	0.14202	0.892000	0.35008	0.716000	0.41182	0.448000	0.21726	0.179000	0.19938	0.455000	0.32223	CGA		0.418	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		42	163	0	0	0	0	42	163				
ARHGAP17	55114	broad.mit.edu	37	16	24988544	24988544	+	Silent	SNP	T	T	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:24988544T>G	ENST00000289968.6	-	3	259	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	ARHGAP17_ENST00000441763.2_Silent_p.R64R|ARHGAP17_ENST00000303665.5_Silent_p.R64R|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	64	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACGTGTCTCCTCTCGGCATCG	0.547																																						uc002dnb.2		NA																	0					0						c.(190-192)AGG>CGG		nadrin isoform 1							71.0	52.0	58.0					16																	24988544		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24988544T>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.190A>C	16.37:g.24988544T>G						ARHGAP17_uc002dnc.2_Silent_p.R64R|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.R64R	p.R64R	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	3	283	-			64			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.190A>C	CCDS32409.1																																																																																				0.547	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		38	42	0	0	0	0	38	42				
SRCAP	10847	broad.mit.edu	37	16	30736322	30736322	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:30736322C>T	ENST00000262518.4	+	25	5962	c.5577C>T	c.(5575-5577)agC>agT	p.S1859S	SRCAP_ENST00000395059.2_Silent_p.S1797S|SRCAP_ENST00000344771.4_Silent_p.S1701S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1859	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCCCCCCAGCCCTCCCTCCA	0.612																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(5575-5577)AGC>AGT		Snf2-related CBP activator protein							100.0	109.0	106.0					16																	30736322		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736322C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5577C>T	16.37:g.30736322C>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S1654S|SRCAP_uc010bzz.1_Silent_p.S1429S	p.S1859S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5962	+			1859			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.5577C>T	CCDS10689.2																																																																																				0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		125	132	0	0	0	0	125	132				
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A	rs369294701		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	RP11-449J10.1_ENST00000564358.1_RNA|ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(232-234)CAC>CAT		ADAM metallopeptidase with thrombospondin type 1		G		0,4396		0,0,2198	199.0	206.0	204.0		234	-0.3	1.0	16		204	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		78/1222	77465453	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465453G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.234C>T	16.37:g.77465453G>A						ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	p.H78H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	653	-			78					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.234C>T	CCDS10926.1																																																																																				0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			101	418	0	0	0	0	101	418				
PKD1L2	114780	broad.mit.edu	37	16	81142864	81142864	+	RNA	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:81142864T>C	ENST00000534142.1	-	0	1408				PKD1L2_ENST00000533478.1_RNA|RNU6-1191P_ENST00000516799.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGGGTTTTGTAGGAACGG	0.507																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(7021-7023)AAA>GAA		polycystin 1-like 2 isoform a							46.0	47.0	47.0					16																	81142864		1953	4125	6078			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81142864T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81142864T>C						PKD1L2_uc002fgf.1_Missense_Mutation_p.K141E|PKD1L2_uc002fgg.1_RNA	p.K2341E	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			43	7021	-			2341			Channel pore-region.|Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.7021A>G																																																																																					0.507	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	19	0	0	0	0	3	19				
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*	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	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)	ACCCACAGCTGCACAGGGCAG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(430-432)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	56.0	57.0					17																	7578500		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578500G>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.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	p.Q144*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	624	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	144		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.430C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	62	0	0	0	0	19	62				
ATAD5	79915	broad.mit.edu	37	17	29161578	29161578	+	Missense_Mutation	SNP	G	G	A	rs375111527		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:29161578G>A	ENST00000321990.4	+	2	857	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	160					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGTTTTACGTTACAAGAAA	0.313																																						uc002hfs.1		NA																	0				ovary(3)	3						c.(478-480)CGT>CAT		ATPase family, AAA domain containing 5		G	HIS/ARG	0,4404		0,0,2202	112.0	124.0	120.0		479	1.0	0.0	17		120	1,8593	1.2+/-3.3	0,1,4296	no	missense	ATAD5	NM_024857.3	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	160/1845	29161578	1,12997	2202	4297	6499	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161578G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.479G>A	17.37:g.29161578G>A	ENSP00000313171:p.Arg160His					ATAD5_uc002hft.1_Missense_Mutation_p.R57H	p.R160H	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	825	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	160					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.479G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052133	0.01981	0.0	1.16E-4	ENSG00000176208	ENST00000321990	T	0.18016	2.24	5.77	1.03	0.20045	.	1.159820	0.06108	N	0.666612	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.38156	-0.9674	10	0.24483	T	0.36	.	3.3782	0.07244	0.2101:0.0587:0.2207:0.5104	.	160;160	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	160	ENSP00000313171:R160H	ENSP00000313171:R160H	R	+	2	0	ATAD5	26185704	0.011000	0.17503	0.000000	0.03702	0.119000	0.20118	0.817000	0.27281	-0.047000	0.13423	-2.663000	0.00146	CGT		0.313	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		69	199	0	0	0	0	69	199				
AP2B1	163	broad.mit.edu	37	17	33963460	33963460	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:33963460G>A	ENST00000262325.7	+	10	1809	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	AP2B1_ENST00000312678.8_Missense_Mutation_p.R419H|AP2B1_ENST00000592545.1_Missense_Mutation_p.R381H|AP2B1_ENST00000538556.1_Missense_Mutation_p.R362H|AP2B1_ENST00000589344.1_Missense_Mutation_p.R419H|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R419H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACATCTTCCGCAAATACCCC	0.398																																						uc002hjr.2		NA																	0				ovary(1)	1						c.(1255-1257)CGC>CAC		adaptor-related protein complex 2, beta 1							112.0	96.0	101.0					17																	33963460		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33963460G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1256G>A	17.37:g.33963460G>A	ENSP00000262325:p.Arg419His					AP2B1_uc002hjq.2_Missense_Mutation_p.R419H|AP2B1_uc010wci.1_Missense_Mutation_p.R381H|AP2B1_uc002hjs.2_Missense_Mutation_p.R362H|AP2B1_uc002hjt.2_Missense_Mutation_p.R419H|AP2B1_uc010ctv.2_Missense_Mutation_p.R419H|AP2B1_uc010wcj.1_Missense_Mutation_p.R156H	p.R419H	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	10	1445	+		Ovarian(249;0.17)	419					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1256G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091680	0.94149	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.44	5.44	0.79542	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;0.999	T	0.75054	-0.3453	10	0.87932	D	0	0.7678	18.6176	0.91308	0.0:0.0:1.0:0.0	.	156;381;419;419	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	H	419;419;362;419;156	ENSP00000262325:R419H;ENSP00000314414:R419H;ENSP00000440563:R362H;ENSP00000437413:R419H	ENSP00000262325:R419H	R	+	2	0	AP2B1	30987573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.857000	0.99534	2.723000	0.93209	0.591000	0.81541	CGC		0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			9	30	0	0	0	0	9	30				
DDX52	11056	broad.mit.edu	37	17	36002269	36002269	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:36002269C>G	ENST00000349699.2	-	2	199	c.156G>C	c.(154-156)aaG>aaC	p.K52N	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586163.1_RNA|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	52						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GGACAGACTTCTTGTTTCCAA	0.413																																						uc002hoi.1		NA																	0				ovary(1)|skin(1)	2						c.(154-156)AAG>AAC		ATP-dependent RNA helicase ROK1 isoform a							105.0	105.0	105.0					17																	36002269		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:36002269C>G	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.156G>C	17.37:g.36002269C>G	ENSP00000268854:p.Lys52Asn					DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'UTR	p.K52N	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			2	194	-		Breast(25;0.00637)|Ovarian(249;0.15)	52					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.156G>C	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992857	0.35131	.	.	ENSG00000141141	ENST00000349699	T	0.14893	2.47	5.06	3.06	0.35304	.	1.314310	0.04436	N	0.370108	T	0.18087	0.0434	L	0.54323	1.7	0.80722	D	1	P	0.44627	0.839	B	0.36134	0.218	T	0.10753	-1.0616	10	0.45353	T	0.12	-13.7401	8.0671	0.30667	0.0:0.8104:0.0:0.1896	.	52	Q9Y2R4	DDX52_HUMAN	N	52	ENSP00000268854:K52N	ENSP00000268854:K52N	K	-	3	2	DDX52	33076382	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	0.428000	0.21395	0.641000	0.30601	0.491000	0.48974	AAG		0.413	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		29	82	0	0	0	0	29	82				
UNK	85451	broad.mit.edu	37	17	73809222	73809222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:73809222G>A	ENST00000589666.1	+	5	796	c.686G>A	c.(685-687)cGc>cAc	p.R229H	UNK_ENST00000293218.3_Missense_Mutation_p.R305H	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	229							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCTGTGCCGCCAAGGCTAT	0.637																																						uc002jpm.2		NA																	0					0						c.(913-915)CGC>CAC		zinc finger CCCH-type domain containing 5							22.0	27.0	25.0					17																	73809222		1881	4100	5981	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73809222G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.686G>A	17.37:g.73809222G>A	ENSP00000464893:p.Arg229His						p.R305H	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	914	+			229			C3H1-type 3.			Missense_Mutation	SNP	ENST00000589666.1	37	c.914G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	35	5.439742	0.96168	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60480	-0.7255	9	0.22109	T	0.4	-24.6585	18.1613	0.89708	0.0:0.0:1.0:0.0	.	229	Q9C0B0	UNK_HUMAN	H	305	.	ENSP00000293218:R305H	R	+	2	0	UNK	71320817	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.487000	0.97945	2.523000	0.85059	0.655000	0.94253	CGC		0.637	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		6	7	0	0	0	0	6	7				
SPIRE1	56907	broad.mit.edu	37	18	12449740	12449740	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:12449740G>A	ENST00000409402.4	-	17	2435	c.2168C>T	c.(2167-2169)gCc>gTc	p.A723V	SPIRE1_ENST00000453447.2_Missense_Mutation_p.A589V|RP11-861E21.2_ENST00000588197.1_RNA|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.A512V|SPIRE1_ENST00000410092.3_Missense_Mutation_p.A709V|RP11-861E21.2_ENST00000589795.1_RNA	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CCTTTTGTTGGCCAACACCAG	0.522																																						uc002kre.2		NA																	0					0						c.(2167-2169)GCC>GTC		spire homolog 1 isoform a							115.0	114.0	115.0					18																	12449740		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12449740G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.2168C>T	18.37:g.12449740G>A	ENSP00000387266:p.Ala723Val					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.A589V|SPIRE1_uc010wzx.1_Missense_Mutation_p.A512V|SPIRE1_uc010wzy.1_Missense_Mutation_p.A709V	p.A723V	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			17	2215	-			723						Missense_Mutation	SNP	ENST00000409402.4	37	c.2168C>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770931	0.90108	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	T;T;T;T	0.46063	0.89;1.48;1.45;0.88	5.62	5.62	0.85841	.	0.049030	0.85682	D	0.000000	T	0.59348	0.2187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.984;0.998;1.0	P;P;D	0.85130	0.889;0.904;0.997	T	0.48115	-0.9063	10	0.18276	T	0.48	-20.2021	19.6764	0.95936	0.0:0.0:1.0:0.0	.	709;512;723	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	V	589;723;709;512	ENSP00000407050:A589V;ENSP00000387266:A723V;ENSP00000387226:A709V;ENSP00000309661:A512V	ENSP00000309661:A512V	A	-	2	0	SPIRE1	12439740	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.238000	0.95380	2.660000	0.90430	0.655000	0.94253	GCC		0.522	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		4	163	0	0	0	0	4	163				
MAPK4	5596	broad.mit.edu	37	18	48190823	48190823	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:48190823G>C	ENST00000400384.2	+	2	1531	c.495G>C	c.(493-495)aaG>aaC	p.K165N	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Missense_Mutation_p.K165N|MAPK4_ENST00000592595.1_Missense_Mutation_p.K165N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGTGCTCAAGATTGGGGATT	0.562																																						uc002lev.2		NA																	0				lung(4)|skin(2)	6						c.(493-495)AAG>AAC		mitogen-activated protein kinase 4							67.0	68.0	68.0					18																	48190823		2179	4282	6461	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190823G>C	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.495G>C	18.37:g.48190823G>C	ENSP00000383234:p.Lys165Asn					MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.K165N	p.K165N	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1495	+		Colorectal(6;0.0297)	165			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.495G>C	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369376	0.82463	.	.	ENSG00000141639	ENST00000400384	T	0.63744	-0.06	5.87	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.87269	0.6135	H	0.98833	4.345	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91958	0.5576	10	0.87932	D	0	-20.7312	13.9715	0.64242	0.074:0.0:0.926:0.0	.	165;165	Q0VG04;P31152	.;MK04_HUMAN	N	165	ENSP00000383234:K165N	ENSP00000383234:K165N	K	+	3	2	MAPK4	46444821	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.170000	0.58229	1.493000	0.48517	-0.258000	0.10820	AAG		0.562	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		69	30	0	0	0	0	69	30				
MUC16	94025	broad.mit.edu	37	19	9085379	9085379	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:9085379G>T	ENST00000397910.4	-	1	6639	c.6436C>A	c.(6436-6438)Ctt>Att	p.L2146I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2146	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L2146V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCATTGGAAGAGGGACTTCA	0.498																																						uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6436-6438)CTT>ATT		mucin 16							73.0	71.0	72.0					19																	9085379		1912	4127	6039	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085379G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6436C>A	19.37:g.9085379G>T	ENSP00000381008:p.Leu2146Ile						p.L2146I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6640	-			2146			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6436C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.195	-1.049521	0.01981	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.31655	0.334	B	0.20767	0.031	T	0.45116	-0.9283	7	0.87932	D	0	.	.	.	.	.	2146	B5ME49	.	I	2146	ENSP00000381008:L2146I	ENSP00000381008:L2146I	L	-	1	0	MUC16	8946379	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.144000	0.10280	-0.671000	0.05274	-0.657000	0.03884	CTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	94	1	0	1.25e-16	1.34e-16	30	94				
C19orf57	79173	broad.mit.edu	37	19	14001123	14001123	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:14001123C>T	ENST00000586783.1	-	5	545	c.546G>A	c.(544-546)gcG>gcA	p.A182A	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Silent_p.A182A|C19orf57_ENST00000346736.2_Silent_p.A182A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	182					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCCGGGCACCGCCTGCACAG	0.682																																						uc002mxl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(544-546)GCG>GCA		hypothetical protein LOC79173							51.0	52.0	52.0					19																	14001123		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14001123C>T	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.546G>A	19.37:g.14001123C>T						C19orf57_uc002mxk.1_Silent_p.A64A|C19orf57_uc002mxm.1_Intron	p.A182A	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	605	-			182					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.546G>A																																																																																					0.682	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		51	102	0	0	0	0	51	102				
NRXN1	9378	broad.mit.edu	37	2	50464073	50464073	+	Missense_Mutation	SNP	G	G	C	rs558480156		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:50464073G>C	ENST00000406316.2	-	18	4876	c.3400C>G	c.(3400-3402)Caa>Gaa	p.Q1134E	NRXN1_ENST00000401710.1_Missense_Mutation_p.Q152E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.Q99E|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1126E|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1134E|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1126E|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1134E|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q1174E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1134	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACGTGATTTGTCCACCACCT	0.448																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(295-297)CAA>GAA		neurexin 1 isoform beta precursor							117.0	108.0	111.0					2																	50464073		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50464073G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3400C>G	2.37:g.50464073G>C	ENSP00000384311:p.Gln1134Glu					NRXN1_uc002rxb.3_Missense_Mutation_p.Q806E|NRXN1_uc010fbq.2_Missense_Mutation_p.Q1174E|NRXN1_uc002rxe.3_Missense_Mutation_p.Q1134E|NRXN1_uc002rxc.1_RNA	p.Q99E	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1102	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	99			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.295C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741596	0.69304	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79141	0.97;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.108693	0.36703	U	0.002442	T	0.69780	0.3149	N	0.22421	0.69	0.30057	N	0.811246	P;P;P;B	0.42871	0.563;0.792;0.79;0.432	B;B;B;B	0.39379	0.298;0.215;0.224;0.112	T	0.72737	-0.4203	10	0.72032	D	0.01	.	19.7969	0.96490	0.0:0.0:1.0:0.0	.	1174;99;1134;1126	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	E	99;53;152;1174;1134;1126;1134;1175;1126;1134	ENSP00000341184:Q99E;ENSP00000385580:Q152E;ENSP00000385142:Q1174E;ENSP00000384311:Q1134E;ENSP00000434015:Q1126E;ENSP00000385017:Q1134E;ENSP00000385434:Q1126E;ENSP00000385681:Q1134E	ENSP00000341184:Q99E	Q	-	1	0	NRXN1	50317577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.539000	0.73856	2.679000	0.91253	0.650000	0.86243	CAA		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			40	106	0	0	0	0	40	106				
IL37	27178	broad.mit.edu	37	2	113675313	113675313	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:113675313G>C	ENST00000263326.3	+	4	409	c.367G>C	c.(367-369)Gac>Cac	p.D123H	IL37_ENST00000311328.2_Missense_Mutation_p.D97H|IL37_ENST00000353225.3_Missense_Mutation_p.D83H|IL37_ENST00000349806.3_Missense_Mutation_p.D62H|IL37_ENST00000352179.3_Missense_Mutation_p.D102H	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	123					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TCTCTACTGTGACAAGGATAA	0.488																																						uc002tij.2		NA																	0					0						c.(367-369)GAC>CAC		interleukin 1 family, member 7 isoform 1							128.0	135.0	133.0					2																	113675313		2203	4300	6503	SO:0001583	missense	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113675313G>C	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.367G>C	2.37:g.113675313G>C	ENSP00000263326:p.Asp123His					IL1F7_uc002tik.2_Missense_Mutation_p.D102H|IL1F7_uc002til.2_Missense_Mutation_p.D83H|IL1F7_uc002tim.2_Missense_Mutation_p.D62H|IL1F7_uc002tin.2_Missense_Mutation_p.D97H	p.D123H	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			4	409	+			123					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	c.367G>C	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	g	13.90	2.376384	0.42105	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	3.12	2.23	0.28157	.	1.165010	0.06529	N	0.741157	T	0.69415	0.3108	L	0.46157	1.445	0.20926	N	0.999823	D;P;D;D;D	0.64830	0.974;0.911;0.986;0.992;0.994	P;P;P;P;D	0.64321	0.808;0.634;0.789;0.875;0.924	T	0.53401	-0.8444	10	0.51188	T	0.08	-4.8086	6.0645	0.19856	0.1459:0.0:0.8541:0.0	.	97;62;83;102;123	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	H	123;102;62;83;97	ENSP00000263326:D123H;ENSP00000263327:D102H;ENSP00000263328:D62H;ENSP00000309208:D83H;ENSP00000309883:D97H	ENSP00000263326:D123H	D	+	1	0	IL37	113391784	0.195000	0.23338	0.543000	0.28128	0.031000	0.12232	0.478000	0.22212	0.877000	0.35895	0.558000	0.71614	GAC		0.488	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		47	145	0	0	0	0	47	145				
LRP2	4036	broad.mit.edu	37	2	170063539	170063539	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:170063539C>T	ENST00000263816.3	-	39	6976	c.6691G>A	c.(6691-6693)Gag>Aag	p.E2231K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2231					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAATGCCCTCTGACACAAGC	0.463																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6691-6693)GAG>AAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						183.0	168.0	173.0					2																	170063539		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063539C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6691G>A	2.37:g.170063539C>T	ENSP00000263816:p.Glu2231Lys						p.E2231K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6904	-			2231			LDL-receptor class B 22.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6691G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474207	0.63737	.	.	ENSG00000081479	ENST00000263816	D	0.96459	-4.02	5.98	3.22	0.36961	Six-bladed beta-propeller, TolB-like (1);	0.283049	0.40818	N	0.001020	D	0.91872	0.7427	L	0.27944	0.81	0.80722	D	1	P	0.40970	0.734	B	0.43575	0.424	D	0.86358	0.1715	10	0.14656	T	0.56	.	9.2068	0.37293	0.1199:0.7545:0.0:0.1257	.	2231	P98164	LRP2_HUMAN	K	2231	ENSP00000263816:E2231K	ENSP00000263816:E2231K	E	-	1	0	LRP2	169771785	1.000000	0.71417	0.108000	0.21378	0.795000	0.44927	4.882000	0.63121	0.421000	0.25980	-0.188000	0.12872	GAG		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		68	185	0	0	0	0	68	185				
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557																																						uc002wfm.1		NA																	0				ovary(1)	1						c.(16-18)TCC>TTC		signal-regulatory protein gamma isoform 1							127.0	116.0	120.0					20																	1638344		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1638344G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.17C>T	20.37:g.1638344G>A	ENSP00000305529:p.Ser6Phe					SIRPG_uc002wfn.1_Missense_Mutation_p.S6F|SIRPG_uc002wfo.1_Missense_Mutation_p.S6F	p.S6F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			1	82	-			6					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.17C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	6.866	0.529189	0.13127	.	.	ENSG00000089012	ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.12255	4.52;2.7;5.16;5.16	2.29	1.32	0.21799	.	0.543822	0.15029	N	0.284591	T	0.13500	0.0327	M	0.63428	1.95	0.09310	N	1	B;B;B	0.24368	0.102;0.056;0.09	B;B;B	0.24848	0.054;0.056;0.041	T	0.22906	-1.0203	10	0.62326	D	0.03	.	4.5726	0.12217	0.1908:0.0:0.8092:0.0	.	6;6;6	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	F	6	ENSP00000342759:S6F;ENSP00000305529:S6F;ENSP00000370995:S6F;ENSP00000216927:S6F	ENSP00000216927:S6F	S	-	2	0	SIRPG	1586344	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.093000	0.15086	0.520000	0.28426	0.543000	0.68304	TCC		0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		34	157	0	0	0	0	34	157				
INSM1	3642	broad.mit.edu	37	20	20349259	20349259	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:20349259C>G	ENST00000310227.1	+	1	495	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	116	Ala/Gly/Pro-rich.				adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		ACAAGTACTTCGAACGCAGCT	0.751																																						uc002wrx.2		NA																	0				ovary(1)	1						c.(346-348)TTC>TTG		insulinoma-associated 1							6.0	6.0	6.0					20																	20349259		1362	2810	4172	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349259C>G		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.348C>G	20.37:g.20349259C>G	ENSP00000312631:p.Phe116Leu						p.F116L	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	495	+			116			Ala/Gly/Pro-rich.			Missense_Mutation	SNP	ENST00000310227.1	37	c.348C>G	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	1.213	-0.629252	0.03610	.	.	ENSG00000173404	ENST00000310227	T	0.00603	6.28	2.5	0.262	0.15597	.	0.204155	0.32671	U	0.005786	T	0.00328	0.0010	N	0.17474	0.49	0.29101	N	0.881506	B	0.14438	0.01	B	0.12156	0.007	T	0.45381	-0.9265	10	0.02654	T	1	.	4.3918	0.11344	0.0:0.5021:0.2646:0.2333	.	116	Q01101	INSM1_HUMAN	L	116	ENSP00000312631:F116L	ENSP00000312631:F116L	F	+	3	2	INSM1	20297259	.	.	0.997000	0.53966	0.920000	0.55202	.	.	-0.290000	0.09025	0.186000	0.17326	TTC		0.751	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		7	10	0	0	0	0	7	10				
CACNA1I	8911	broad.mit.edu	37	22	39996588	39996588	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr22:39996588G>T	ENST00000402142.3	+	3	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G138W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G138W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G138W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	138					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G138R(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTGGCCCTGGGGATTTTTGG	0.562																																						uc003ayc.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(412-414)GGG>TGG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						89.0	87.0	88.0					22																	39996588		1933	4156	6089	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39996588G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.412G>T	22.37:g.39996588G>T	ENSP00000385019:p.Gly138Trp					CACNA1I_uc003ayd.2_Missense_Mutation_p.G138W|CACNA1I_uc003aye.2_Missense_Mutation_p.G53W|CACNA1I_uc003ayf.2_Missense_Mutation_p.G53W	p.G138W	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			3	412	+	Melanoma(58;0.0749)		138			I.|Helical; Name=S2 of repeat I; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.412G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079724	0.76528	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42;-5.42;-5.42	4.71	3.66	0.41972	Ion transport (1);	0.240546	0.40908	D	0.000989	D	0.99606	0.9857	H	0.99312	4.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97595	1.0119	10	0.87932	D	0	.	14.0259	0.64586	0.0:0.0:0.8477:0.1523	.	138;138;138;138	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	138	ENSP00000385019:G138W;ENSP00000384093:G138W;ENSP00000383887:G138W;ENSP00000385680:G138W;ENSP00000337829:G138W;ENSP00000383028:G138W	ENSP00000337829:G138W	G	+	1	0	CACNA1I	38326534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	1.142000	0.42291	0.655000	0.94253	GGG		0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		15	15	1	0	7.93e-07	8.22e-07	15	15				
CTNNB1	1499	broad.mit.edu	37	3	41275254	41275254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:41275254C>T	ENST00000349496.5	+	9	1700	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R467*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	474					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTGACCAGCCGACACCAAGA	0.542		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1420-1422)CGA>TGA		beta-catenin	Lithium(DB01356)						180.0	166.0	171.0					3																	41275254		2203	4300	6503	SO:0001587	stop_gained	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275254C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1420C>T	3.37:g.41275254C>T	ENSP00000344456:p.Arg474*					CTNNB1_uc003ckp.2_Nonsense_Mutation_p.R474*|CTNNB1_uc003ckq.2_Nonsense_Mutation_p.R474*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.R474*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.R467*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.R402*|CTNNB1_uc003cks.2_Nonsense_Mutation_p.R77*|CTNNB1_uc003ckt.1_5'Flank	p.R474*	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	10	1576	+			474			ARM 8.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	ENST00000349496.5	37	c.1420C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	40	8.492660	0.98834	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.56	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.8143	11.4489	0.50140	0.3792:0.6208:0.0:0.0	.	.	.	.	X	474;474;474;467;474	.	ENSP00000344456:R474X	R	+	1	2	CTNNB1	41250258	0.944000	0.32072	1.000000	0.80357	0.999000	0.98932	1.985000	0.40668	2.775000	0.95449	0.655000	0.94253	CGA		0.542	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		75	103	0	0	0	0	75	103				
COL6A6	131873	broad.mit.edu	37	3	130300633	130300633	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:130300633A>G	ENST00000358511.6	+	8	3807	c.3776A>G	c.(3775-3777)gAa>gGa	p.E1259G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1259G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1259	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTACAGTGAAAACATACTG	0.403																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3775-3777)GAA>GGA		collagen type VI alpha 6 precursor							138.0	134.0	135.0					3																	130300633		1915	4115	6030	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130300633A>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3776A>G	3.37:g.130300633A>G	ENSP00000351310:p.Glu1259Gly					COL6A6_uc003eni.3_5'Flank	p.E1259G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			8	3807	+			1259			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3776A>G	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.66|17.66	3.445725|3.445725	0.63178|0.63178	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.38401|.	1.14;1.14|.	6.06|6.06	6.06|6.06	0.98353|0.98353	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.66458|0.66458	0.2791|0.2791	L|L	0.59436|0.59436	1.845|1.845	0.34301|0.34301	D|D	0.684378|0.684378	P|.	0.52463|.	0.953|.	P|.	0.50109|.	0.631|.	T|T	0.74469|0.74469	-0.3655|-0.3655	9|5	0.33141|.	T|.	0.24|.	.|.	15.5919|15.5919	0.76537|0.76537	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1259|.	A6NMZ7|.	CO6A6_HUMAN|.	G|E	1259|17	ENSP00000351310:E1259G;ENSP00000399236:E1259G|.	ENSP00000351310:E1259G|.	E|K	+|+	2|1	0|0	COL6A6|COL6A6	131783323|131783323	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.572000|0.572000	0.35998|0.35998	6.133000|6.133000	0.71682|0.71682	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.403	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		54	207	0	0	0	0	54	207				
MRFAP1L1	114932	broad.mit.edu	37	4	6711285	6711285	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:6711285G>A	ENST00000320848.6	-	1	322	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	24																	GGAACTGCTCGAAATCCTCCT	0.632																																						uc003gjn.2		NA																	0					0						c.(70-72)TTC>TTT		Morf4 family associated protein 1-like 1							50.0	50.0	50.0					4																	6711285		2203	4300	6503	SO:0001819	synonymous_variant	114932							g.chr4:6711285G>A	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.72C>T	4.37:g.6711285G>A						MRFAP1L1_uc003gjo.2_Silent_p.F24F	p.F24F	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN			1	312	-			24					B2R6R0|Q6NXT8|Q9P0J5	Silent	SNP	ENST00000320848.6	37	c.72C>T	CCDS3392.1																																																																																				0.632	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1	NM_152301		29	51	0	0	0	0	29	51				
CEP135	9662	broad.mit.edu	37	4	56830566	56830566	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:56830566C>G	ENST00000257287.4	+	7	950	c.826C>G	c.(826-828)Cag>Gag	p.Q276E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	276					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAATATTCAGGTAATGGC	0.348																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(826-828)CAG>GAG		centrosome protein 4							72.0	74.0	73.0					4																	56830566		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56830566C>G	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.826C>G	4.37:g.56830566C>G	ENSP00000257287:p.Gln276Glu					CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Missense_Mutation_p.Q106E	p.Q276E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			7	1060	+	Glioma(25;0.08)|all_neural(26;0.101)		276			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.826C>G	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516140	0.85495	.	.	ENSG00000174799	ENST00000257287	T	0.56776	0.44	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.72118	2.19	0.51012	D	0.999907	D	0.65815	0.995	P	0.54431	0.752	T	0.59542	-0.7435	10	0.15066	T	0.55	.	19.7604	0.96314	0.0:1.0:0.0:0.0	.	276	Q66GS9	CP135_HUMAN	E	276	ENSP00000257287:Q276E	ENSP00000257287:Q276E	Q	+	1	0	CEP135	56525323	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.497000	0.73674	2.675000	0.91044	0.655000	0.94253	CAG		0.348	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		14	32	0	0	0	0	14	32				
PLA2G12A	81579	broad.mit.edu	37	4	110650952	110650952	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:110650952G>C	ENST00000243501.5	-	1	281	c.14C>G	c.(13-15)tCg>tGg	p.S5W	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.S5W	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	5					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGCGGGGCGCGAGAGCAGGGC	0.736																																						uc003hzp.2		NA																	0					0						c.(13-15)TCG>TGG		phospholipase A2, group XIIA precursor							18.0	16.0	17.0					4																	110650952		2134	4172	6306	SO:0001583	missense	81579				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr4:110650952G>C		CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"""phospholipase A2, group XII"""	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.14C>G	4.37:g.110650952G>C	ENSP00000243501:p.Ser5Trp					PLA2G12A_uc010img.2_Missense_Mutation_p.S5W	p.S5W	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	1	291	-			5					Q9BZ89	Missense_Mutation	SNP	ENST00000243501.5	37	c.14C>G	CCDS3686.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017399	0.35606	.	.	ENSG00000123739	ENST00000243501;ENST00000502283	.	.	.	3.71	0.912	0.19349	.	2.040760	0.02330	N	0.073816	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	P;P	0.36647	0.563;0.563	B;B	0.31101	0.124;0.124	T	0.17137	-1.0379	9	0.72032	D	0.01	-19.6205	4.914	0.13837	0.3561:0.1693:0.4746:0.0	.	5;5	Q542Y6;Q9BZM1	.;PG12A_HUMAN	W	5	.	ENSP00000243501:S5W	S	-	2	0	PLA2G12A	110870401	0.003000	0.15002	0.010000	0.14722	0.046000	0.14306	0.090000	0.15025	0.026000	0.15269	0.313000	0.20887	TCG		0.736	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3			2	5	0	0	0	0	2	5				
NDNF	79625	broad.mit.edu	37	4	121958285	121958285	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:121958285A>C	ENST00000379692.4	-	4	1367	c.841T>G	c.(841-843)Tac>Gac	p.Y281D	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	281	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGCCTGGAGTAGACATGACGC	0.458																																						uc003idq.1		NA																	0					0						c.(841-843)TAC>GAC		hypothetical protein LOC79625 precursor							93.0	93.0	93.0					4																	121958285		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958285A>C	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.841T>G	4.37:g.121958285A>C	ENSP00000369014:p.Tyr281Asp						p.Y281D	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1368	-			281			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.841T>G	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	6.803	0.517219	0.13005	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.77	3.31	0.37934	.	0.455778	0.25430	N	0.030731	T	0.27933	0.0688	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.18429	-1.0337	9	0.36615	T	0.2	-10.2167	3.9311	0.09285	0.6686:0.1346:0.0683:0.1286	.	281	Q8TB73	NDNF_HUMAN	D	281	.	ENSP00000369014:Y281D	Y	-	1	0	NDNF	122177735	0.247000	0.23920	0.228000	0.23943	0.957000	0.61999	1.053000	0.30442	0.433000	0.26313	0.533000	0.62120	TAC		0.458	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		20	85	0	0	0	0	20	85				
TDO2	6999	broad.mit.edu	37	4	156825277	156825277	+	Splice_Site	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:156825277T>C	ENST00000536354.2	+	2	205		c.e2+2			NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TACCTGCATGTAAGTGGCAGG	0.423																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1		NA																	0					0						c.e2+2		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						64.0	61.0	62.0					4																	156825277		2203	4300	6503	SO:0001630	splice_region_variant	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825277T>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.141+2T>C	4.37:g.156825277T>C							p.H47_splice	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	2	205	+	all_hematologic(180;0.24)	Renal(120;0.0854)							Splice_Site	SNP	ENST00000536354.2	37	c.141_splice	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289419	0.59976	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.196	0.82025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDO2	157044727	1.000000	0.71417	0.532000	0.27989	0.629000	0.37895	7.461000	0.80834	2.226000	0.72624	0.528000	0.53228	.		0.423	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651	Intron	24	33	0	0	0	0	24	33				
DNAH5	1767	broad.mit.edu	37	5	13817674	13817674	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:13817674G>T	ENST00000265104.4	-	42	7075	c.6971C>A	c.(6970-6972)aCa>aAa	p.T2324K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2324	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCTTAATGTTTTCCTCCA	0.383									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6970-6972)ACA>AAA		dynein, axonemal, heavy chain 5							117.0	113.0	114.0					5																	13817674		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13817674G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6971C>A	5.37:g.13817674G>T	ENSP00000265104:p.Thr2324Lys						p.T2324K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			42	7013	-	Lung NSC(4;0.00476)		2324			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6971C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944547	0.92593	.	.	ENSG00000039139	ENST00000265104	T	0.38722	1.12	5.42	5.42	0.78866	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	M	0.86953	2.85	0.80722	D	1	D	0.63046	0.992	D	0.71184	0.972	T	0.75838	-0.3176	10	0.72032	D	0.01	.	19.2136	0.93767	0.0:0.0:1.0:0.0	.	2324	Q8TE73	DYH5_HUMAN	K	2324	ENSP00000265104:T2324K	ENSP00000265104:T2324K	T	-	2	0	DNAH5	13870674	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.773000	0.98989	2.535000	0.85469	0.650000	0.86243	ACA		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	123	1	0	5.35e-07	5.59e-07	20	123				
MYO10	4651	broad.mit.edu	37	5	16694532	16694532	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:16694532C>T	ENST00000513610.1	-	27	4202	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K	MYO10_ENST00000427430.2_Missense_Mutation_p.E607K|MYO10_ENST00000505695.1_Missense_Mutation_p.E589K|MYO10_ENST00000274203.9_Missense_Mutation_p.E607K|MYO10_ENST00000515803.1_Missense_Mutation_p.E589K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1250	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.E1250Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGTCGTTTTCAAAGTACATC	0.552																																						uc003jft.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3748-3750)GAA>AAA		myosin X							136.0	137.0	137.0					5																	16694532		2004	4177	6181	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694532C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3748G>A	5.37:g.16694532C>T	ENSP00000421280:p.Glu1250Lys					MYO10_uc011cnc.1_Missense_Mutation_p.E129K|MYO10_uc011cnd.1_Missense_Mutation_p.E607K|MYO10_uc011cne.1_Missense_Mutation_p.E607K|MYO10_uc010itx.2_Missense_Mutation_p.E873K	p.E1250K	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			27	4216	-			1250			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3748G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181770	0.94885	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.66752	0.2821	N	0.03281	-0.365	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.66497	0.944;0.91;0.944	T	0.69161	-0.5218	9	0.21014	T	0.42	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	129;891;1250	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	K	1250;589;607;589;607	ENSP00000421280:E1250K;ENSP00000425051:E589K;ENSP00000274203:E607K;ENSP00000421170:E589K;ENSP00000391106:E607K	ENSP00000274203:E607K	E	-	1	0	MYO10	16747532	1.000000	0.71417	0.578000	0.28575	0.987000	0.75469	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GAA		0.552	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		61	227	0	0	0	0	61	227				
RREB1	6239	broad.mit.edu	37	6	7229363	7229363	+	Missense_Mutation	SNP	G	G	A	rs114551633	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:7229363G>A	ENST00000349384.6	+	10	1345	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	RREB1_ENST00000334984.6_Missense_Mutation_p.G344D|RREB1_ENST00000379933.3_Missense_Mutation_p.G344D|RREB1_ENST00000379938.2_Missense_Mutation_p.G344D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	344					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAGACCAGGGTCAAGAAAAG	0.622																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1030-1032)GGT>GAT		ras responsive element binding protein 1 isoform							33.0	33.0	33.0					6																	7229363		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229363G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1031G>A	6.37:g.7229363G>A	ENSP00000305560:p.Gly344Asp					RREB1_uc003mxb.2_Missense_Mutation_p.G344D|RREB1_uc010jnx.2_Missense_Mutation_p.G344D	p.G344D	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1421	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	344					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1031G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	3.945	-0.013493	0.07727	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.11385	2.89;2.82;2.89;2.78;2.93	5.7	3.9	0.45041	.	0.124399	0.35407	N	0.003235	T	0.03827	0.0108	L	0.31476	0.935	0.19300	N	0.999977	P;B;P	0.38440	0.631;0.418;0.617	P;B;B	0.45276	0.475;0.157;0.173	T	0.37641	-0.9697	10	0.30854	T	0.27	-10.3049	7.6331	0.28251	0.0663:0.1207:0.6876:0.1253	.	344;344;344	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	344	ENSP00000369265:G344D;ENSP00000369270:G344D;ENSP00000305560:G344D;ENSP00000335574:G344D;ENSP00000419511:G344D	ENSP00000335574:G344D	G	+	2	0	RREB1	7174362	0.898000	0.30612	0.012000	0.15200	0.058000	0.15608	1.813000	0.38962	0.746000	0.32786	0.455000	0.32223	GGT		0.622	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	30	0	0	0	0	16	30				
HIST1H2BK	85236	broad.mit.edu	37	6	27114408	27114408	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:27114408G>C	ENST00000356950.1	-	1	169	c.170C>G	c.(169-171)tCt>tGt	p.S57C	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.S57C|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	57					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATGGCCTTAGAGGAGATGCC	0.577																																						uc003nix.1		NA																	0					0						c.(169-171)TCT>TGT		histone cluster 1, H2bk							110.0	102.0	105.0					6																	27114408		2203	4297	6500	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114408G>C	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.170C>G	6.37:g.27114408G>C	ENSP00000349430:p.Ser57Cys					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.S57C	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	212	-			57					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.170C>G	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.338041	0.81911	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.71934	-0.61;-0.61	4.05	4.05	0.47172	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.88303	0.6400	H	0.98388	4.22	0.40661	D	0.982128	D	0.76494	0.999	D	0.71870	0.975	D	0.92534	0.6036	9	0.87932	D	0	.	14.5252	0.67884	0.0:0.0:1.0:0.0	.	57	O60814	H2B1K_HUMAN	C	57	ENSP00000380100:S57C;ENSP00000349430:S57C	ENSP00000349430:S57C	S	-	2	0	HIST1H2BK	27222387	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	6.865000	0.75500	2.196000	0.70406	0.650000	0.86243	TCT		0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		69	414	0	0	0	0	69	414				
OR5V1	81696	broad.mit.edu	37	6	29323454	29323454	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:29323454C>A	ENST00000377154.1	-	4	818	c.519G>T	c.(517-519)caG>caT	p.Q173H	OR5V1_ENST00000543825.1_Missense_Mutation_p.Q173H			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTAATTAATCTGATTGTTGC	0.463																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1		NA																	0				ovary(3)|kidney(1)	4						c.(517-519)CAG>CAT		olfactory receptor, family 5, subfamily V,							89.0	84.0	86.0					6																	29323454		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323454C>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.519G>T	6.37:g.29323454C>A	ENSP00000366359:p.Gln173His						p.Q173H	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	601	-			173			Extracellular (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.519G>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	3.573	-0.087301	0.07097	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00107	8.72;8.72	4.43	0.5	0.16919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31370	N	0.007761	T	0.00039	0.0001	L	0.35644	1.08	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.49771	-0.8904	10	0.25751	T	0.34	-0.9207	1.8119	0.03092	0.2262:0.2458:0.3625:0.1655	.	173	Q9UGF6	OR5V1_HUMAN	H	173	ENSP00000366359:Q173H;ENSP00000443309:Q173H	ENSP00000366356:Q173H	Q	-	3	2	OR5V1	29431433	0.000000	0.05858	0.329000	0.25429	0.991000	0.79684	-3.663000	0.00400	0.198000	0.20407	0.543000	0.68304	CAG		0.463	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			35	140	1	0	3.93e-24	4.31e-24	35	140				
TNFRSF21	27242	broad.mit.edu	37	6	47254185	47254185	+	Silent	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:47254185G>T	ENST00000296861.2	-	2	636	c.243C>A	c.(241-243)acC>acA	p.T81T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	81					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGCTTGTGTTGGTACAATGCT	0.542																																						uc003oyv.2		NA																	0					0						c.(241-243)ACC>ACA		tumor necrosis factor receptor superfamily,							90.0	81.0	84.0					6																	47254185		2203	4300	6503	SO:0001819	synonymous_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47254185G>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.243C>A	6.37:g.47254185G>T							p.T81T	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	676	-			81			Extracellular (Potential).|TNFR-Cys 1.		B2RDI9|Q0D2P5|Q96D86	Silent	SNP	ENST00000296861.2	37	c.243C>A	CCDS4921.1																																																																																				0.542	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		20	57	1	0	3.52e-12	3.77e-12	20	57				
AKAP12	9590	broad.mit.edu	37	6	151671735	151671735	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:151671735C>A	ENST00000253332.1	+	3	2398	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	AKAP12_ENST00000354675.6_Missense_Mutation_p.P639T|AKAP12_ENST00000402676.2_Missense_Mutation_p.P737T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P632T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	737					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACATGATCCAGGGCAGGG	0.547																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2209-2211)CCA>ACA		A kinase (PRKA) anchor protein 12 isoform 1							103.0	112.0	109.0					6																	151671735		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671735C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2209C>A	6.37:g.151671735C>A	ENSP00000253332:p.Pro737Thr					AKAP12_uc003qoe.2_Missense_Mutation_p.P737T|AKAP12_uc003qof.2_Missense_Mutation_p.P639T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.P632T	p.P737T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2449	+		Ovarian(120;0.125)	737					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2209C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158742	0.21454	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06449	3.3;3.3;3.31;3.31	5.63	5.63	0.86233	.	0.583336	0.14435	N	0.319773	T	0.02727	0.0082	N	0.22421	0.69	0.34097	D	0.661368	B;B;B	0.29805	0.257;0.257;0.167	B;B;B	0.29077	0.098;0.098;0.045	T	0.52185	-0.8609	10	0.23891	T	0.37	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	632;639;737	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	737;737;639;632	ENSP00000384537:P737T;ENSP00000253332:P737T;ENSP00000346702:P639T;ENSP00000352794:P632T	ENSP00000253332:P737T	P	+	1	0	AKAP12	151713428	0.972000	0.33761	0.008000	0.14137	0.015000	0.08874	4.271000	0.58902	2.652000	0.90054	0.655000	0.94253	CCA		0.547	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			67	181	1	0	8.34e-18	9.01e-18	67	181				
TNRC18	84629	broad.mit.edu	37	7	5413746	5413746	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:5413746C>T	ENST00000430969.1	-	10	3517	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1057K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1057	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTTTCTTCTCGACCACATTC	0.677																																						uc003soi.3		NA																	0					0						c.(3169-3171)GAG>AAG		trinucleotide repeat containing 18							40.0	42.0	42.0					7																	5413746		1900	4123	6023	SO:0001583	missense	84629						DNA binding	g.chr7:5413746C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3169G>A	7.37:g.5413746C>T	ENSP00000395538:p.Glu1057Lys						p.E1057K	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	10	3518	-		Ovarian(82;0.142)	1057			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3169G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787974	0.49997	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.15372	2.43;2.43	4.94	4.94	0.65067	.	.	.	.	.	T	0.37598	0.1009	M	0.66939	2.045	0.36588	D	0.873911	D	0.76494	0.999	P	0.60949	0.881	T	0.47749	-0.9093	9	0.66056	D	0.02	.	16.3531	0.83224	0.0:1.0:0.0:0.0	.	1057	O15417	TNC18_HUMAN	K	1057;1057;112;112	ENSP00000382452:E1057K;ENSP00000395538:E1057K	ENSP00000330383:E112K	E	-	1	0	TNRC18	5380272	0.997000	0.39634	0.927000	0.36925	0.756000	0.42949	3.586000	0.53950	2.292000	0.77174	0.484000	0.47621	GAG		0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	40	0	0	0	0	3	40				
STEAP1B	256227	broad.mit.edu	37	7	22534408	22534408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:22534408C>A	ENST00000406890.2	-	2	161	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	STEAP1B_ENST00000404369.4_Nonsense_Mutation_p.E23*	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	23						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						TCGTTGTCTTCTAAATTTCTC	0.284																																						uc003svh.2		NA																	0					0						c.(67-69)GAA>TAA		SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;							141.0	109.0	119.0					7																	22534408		692	1589	2281	SO:0001587	stop_gained	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22534408C>A		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.67G>T	7.37:g.22534408C>A	ENSP00000385239:p.Glu23*					MGC87042_uc010kum.1_Nonsense_Mutation_p.E23*	p.E23*			Q6NZ63	STEAL_HUMAN			2	164	-			23					B5MCI2	Nonsense_Mutation	SNP	ENST00000406890.2	37	c.67G>T	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.749456	0.89753	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	.	.	.	1.6	1.6	0.23607	.	0.226724	0.21414	U	0.074926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.0879	6.7067	0.23254	0.0:1.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000384370:E23X	E	-	1	0	STEAP1B	22500933	0.987000	0.35691	0.955000	0.39395	0.078000	0.17371	1.362000	0.34148	0.927000	0.37143	0.121000	0.15741	GAA		0.284	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			9	71	1	0	0.000274275	0.000279922	9	71				
ABCA13	154664	broad.mit.edu	37	7	48411940	48411940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:48411940C>G	ENST00000435803.1	+	33	11003	c.10979C>G	c.(10978-10980)tCa>tGa	p.S3660*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGGATGTCAGTCGTCATG	0.458																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10978-10980)TCA>TGA		ATP binding cassette, sub-family A (ABC1),							285.0	278.0	280.0					7																	48411940		2029	4199	6228	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411940C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10979C>G	7.37:g.48411940C>G	ENSP00000411096:p.Ser3660*					ABCA13_uc010kys.1_Nonsense_Mutation_p.S734*|ABCA13_uc003tos.1_Nonsense_Mutation_p.S486*	p.S3660*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			33	11004	+			3660			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.10979C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	53	20.438785	0.99930	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.77	5.77	0.91146	.	0.000000	0.43416	D	0.000561	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.335	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	3660	.	ENSP00000411096:S3660X	S	+	2	0	ABCA13	48382486	0.998000	0.40836	0.952000	0.39060	0.965000	0.64279	3.979000	0.56888	2.884000	0.98904	0.655000	0.94253	TCA		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		83	673	0	0	0	0	83	673				
SEMA3A	10371	broad.mit.edu	37	7	83643635	83643635	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:83643635C>T	ENST00000265362.4	-	7	1014	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E234K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	234	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGTCACTCTCTGAGATGAGG	0.368																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(700-702)GAG>AAG		semaphorin 3A precursor							78.0	77.0	77.0					7																	83643635		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83643635C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.700G>A	7.37:g.83643635C>T	ENSP00000265362:p.Glu234Lys						p.E234K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			7	1015	-			234			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.700G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645969	0.96704	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.10477	2.87;2.87	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48822	-0.9001	10	0.87932	D	0	.	19.615	0.95630	0.0:1.0:0.0:0.0	.	234	Q14563	SEM3A_HUMAN	K	234	ENSP00000265362:E234K;ENSP00000415260:E234K	ENSP00000265362:E234K	E	-	1	0	SEMA3A	83481571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GAG		0.368	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		21	60	0	0	0	0	21	60				
ZNF804B	219578	broad.mit.edu	37	7	88965298	88965298	+	Missense_Mutation	SNP	C	C	T	rs375356215		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:88965298C>T	ENST00000333190.4	+	4	3611	c.3002C>T	c.(3001-3003)aCg>aTg	p.T1001M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1001							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAAGGACTACGGAGAAAGAC	0.368										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3001-3003)ACG>ATG		zinc finger protein 804B		C	MET/THR	0,4406		0,0,2203	78.0	78.0	78.0		3002	2.3	0.0	7		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF804B	NM_181646.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1001/1350	88965298	1,13005	2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965298C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3002C>T	7.37:g.88965298C>T	ENSP00000329638:p.Thr1001Met	HNSCC(36;0.09)					p.T1001M	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3540	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1001					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3002C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069470	0.07228	0.0	1.16E-4	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.34	2.32	0.28847	.	0.935674	0.09093	N	0.849664	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	P	0.51240	0.943	B	0.34138	0.176	T	0.42565	-0.9444	10	0.59425	D	0.04	-0.0157	5.9012	0.18967	0.0:0.4804:0.2959:0.2237	.	1001	A4D1E1	Z804B_HUMAN	M	1001	ENSP00000329638:T1001M	ENSP00000329638:T1001M	T	+	2	0	ZNF804B	88803234	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.235000	0.09016	0.280000	0.22209	0.655000	0.94253	ACG		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		29	58	0	0	0	0	29	58				
BCAP29	55973	broad.mit.edu	37	7	107224424	107224424	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:107224424C>T	ENST00000005259.4	+	3	529	c.190C>T	c.(190-192)Cta>Tta	p.L64L	BCAP29_ENST00000379117.2_Silent_p.L64L|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000379119.2_Silent_p.L64L|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Silent_p.L64L	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	64					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TGTTCTATTTCTAGGTAAGTA	0.294																																						uc003vej.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(190-192)CTA>TTA		B-cell receptor-associated protein BAP29 isoform							115.0	114.0	114.0					7																	107224424		2201	4295	6496	SO:0001819	synonymous_variant	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107224424C>T		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.190C>T	7.37:g.107224424C>T						BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Silent_p.L64L|BCAP29_uc011kma.1_Silent_p.L64L	p.L64L	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			3	529	+			64			Helical; (Potential).		G5E9L4|O95003	Silent	SNP	ENST00000005259.4	37	c.190C>T	CCDS34731.1																																																																																				0.294	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		23	67	0	0	0	0	23	67				
CREB3L2	64764	broad.mit.edu	37	7	137686374	137686374	+	Missense_Mutation	SNP	G	G	C	rs565145027		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:137686374G>C	ENST00000330387.6	-	1	429	c.78C>G	c.(76-78)gaC>gaG	p.D26E	CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000456390.1_Missense_Mutation_p.D26E|CREB3L2_ENST00000452463.1_Missense_Mutation_p.D26E	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	26					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGGCCTCGCCGTCCCCGGGCT	0.706			T	FUS	fibromyxoid sarcoma																																	uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(76-78)GAC>GAG		cAMP responsive element binding protein 3-like							32.0	33.0	33.0					7																	137686374		2203	4299	6502	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137686374G>C	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.78C>G	7.37:g.137686374G>C	ENSP00000329140:p.Asp26Glu					CREB3L2_uc003vtx.1_Missense_Mutation_p.D26E|CREB3L2_uc003vty.3_Missense_Mutation_p.D26E|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	p.D26E	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			1	473	-			26			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.78C>G	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	6.124	0.391165	0.11581	.	.	ENSG00000182158	ENST00000330387;ENST00000544877;ENST00000417785;ENST00000456390;ENST00000452463	T;T;T	0.61859	0.49;0.07;1.07	5.97	-11.9	0.00025	.	0.448012	0.23626	N	0.046188	T	0.20007	0.0481	N	0.04355	-0.22	0.53688	D	0.999972	B;B;B	0.12013	0.005;0.002;0.0	B;B;B	0.17979	0.02;0.007;0.001	T	0.48747	-0.9008	10	0.02654	T	1	-0.0897	11.3112	0.49364	0.0616:0.5052:0.3357:0.0975	.	26;26;26	Q70SY1-3;Q70SY1-2;Q70SY1	.;.;CR3L2_HUMAN	E	26	ENSP00000329140:D26E;ENSP00000403550:D26E;ENSP00000410314:D26E	ENSP00000329140:D26E	D	-	3	2	CREB3L2	137336914	0.026000	0.19158	0.000000	0.03702	0.889000	0.51656	-0.466000	0.06672	-2.637000	0.00431	-0.175000	0.13238	GAC		0.706	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		14	39	0	0	0	0	14	39				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139060879	139060879	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:139060879C>T	ENST00000354926.4	+	2	487	c.133C>T	c.(133-135)Cct>Tct	p.P45S	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.P42S|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.P44S|LUC7L2_ENST00000541515.3_Missense_Mutation_p.P111S	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CAACTGTTGTCCTCATGATGT	0.338																																						uc003vux.2		NA																	0					0						c.(133-135)CCT>TCT		LUC7-like 2							163.0	154.0	157.0					7																	139060879		1927	4145	6072	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139060879C>T		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.133C>T	7.37:g.139060879C>T	ENSP00000347005:p.Pro45Ser					LUC7L2_uc011kqs.1_Missense_Mutation_p.P42S|LUC7L2_uc011kqt.1_Missense_Mutation_p.P111S|LUC7L2_uc003vuy.2_Missense_Mutation_p.P44S|LUC7L2_uc003vuz.1_5'UTR|LUC7L2_uc003vva.2_5'UTR	p.P45S	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			2	507	+	Melanoma(164;0.242)		45						Missense_Mutation	SNP	ENST00000354926.4	37	c.133C>T	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358993	0.82353	.	.	ENSG00000146963	ENST00000448820;ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.62498	0.06;0.69;0.1;0.02	5.98	5.98	0.97165	.	0.048437	0.85682	D	0.000000	D	0.86552	0.5960	H	0.95260	3.645	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.89411	0.3703	9	0.87932	D	0	-11.8422	20.4447	0.99122	0.0:1.0:0.0:0.0	.	111;42;44;45	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	S	42;42;111;45;45;44	ENSP00000441604:P42S;ENSP00000440222:P111S;ENSP00000347005:P45S;ENSP00000263545:P44S	ENSP00000263545:P44S	P	+	1	0	LUC7L2	138711419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.834000	0.97654	0.655000	0.94253	CCT		0.338	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			23	67	0	0	0	0	23	67				
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:87460450T>A	ENST00000517970.1	+	19	2379	c.2072T>A	c.(2071-2073)cTt>cAt	p.L691H	WWP1_ENST00000265428.4_Missense_Mutation_p.L691H|WWP1_ENST00000349423.2_Missense_Mutation_p.L473H|WWP1_ENST00000341922.2_Missense_Mutation_p.L561H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274																																						uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(2071-2073)CTT>CAT		WW domain containing E3 ubiquitin protein ligase							45.0	46.0	46.0					8																	87460450		2192	4271	6463	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87460450T>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2072T>A	8.37:g.87460450T>A	ENSP00000427793:p.Leu691His					WWP1_uc010mai.2_Missense_Mutation_p.L467H	p.L691H	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			19	2352	+			691			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2072T>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562664	0.45694	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.5	5.5	0.81552	HECT (4);	0.068533	0.56097	D	0.000022	T	0.62768	0.2455	M	0.82323	2.585	0.58432	D	0.999995	B;B	0.31290	0.302;0.318	B;B	0.36092	0.197;0.217	T	0.67558	-0.5640	10	0.87932	D	0	.	10.0229	0.42055	0.0:0.0752:0.0:0.9248	.	473;691	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	H	691;691;561;473	ENSP00000427793:L691H;ENSP00000265428:L691H;ENSP00000340564:L561H;ENSP00000342665:L473H	ENSP00000265428:L691H	L	+	2	0	WWP1	87529566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.256000	0.72473	2.095000	0.63458	0.533000	0.62120	CTT		0.274	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		17	104	0	0	0	0	17	104				
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A	rs373094487		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4960-4962)CGA>CAA		fibrocystin L precursor		G	GLN/ARG	1,3879		0,1,1939	184.0	183.0	183.0		4961	5.1	0.9	8		183	0,8266		0,0,4133	no	missense	PKHD1L1	NM_177531.4	43	0,1,6072	AA,AG,GG		0.0,0.0258,0.0082	possibly-damaging	1654/4244	110457059	1,12145	1940	4133	6073	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457059G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4961G>A	8.37:g.110457059G>A	ENSP00000367655:p.Arg1654Gln	HNSCC(38;0.096)					p.R1654Q	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5065	+			1654			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4961G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238882	0.39598	2.58E-4	0.0	ENSG00000205038	ENST00000378402	D	0.85702	-2.02	6.03	5.13	0.70059	Immunoglobulin-like fold (1);	0.079672	0.50627	D	0.000110	T	0.82240	0.4994	M	0.67953	2.075	0.34033	D	0.654049	P	0.46987	0.888	B	0.39027	0.288	D	0.87222	0.2254	10	0.46703	T	0.11	.	11.6958	0.51542	0.0903:0.0:0.9097:0.0	.	1654	Q86WI1	PKHL1_HUMAN	Q	1654	ENSP00000367655:R1654Q	ENSP00000367655:R1654Q	R	+	2	0	PKHD1L1	110526235	0.998000	0.40836	0.871000	0.34182	0.145000	0.21501	4.003000	0.57061	1.469000	0.48083	0.655000	0.94253	CGA		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		187	517	0	0	0	0	187	517				
ADCY8	114	broad.mit.edu	37	8	131862050	131862050	+	Splice_Site	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:131862050C>T	ENST00000286355.5	-	10	4303		c.e10-1		ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCATCACTCTGCAGGGAAA	0.468										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.e10-1		adenylate cyclase 8							105.0	73.0	84.0					8																	131862050		2203	4300	6503	SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131862050C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2211-1G>A	8.37:g.131862050C>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.R737_splice	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	2467	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	SNP	ENST00000286355.5	37	c.2211_splice	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425278	0.83667	.	.	ENSG00000155897	ENST00000286355	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9575	0.89074	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY8	131931232	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.375000	0.79646	2.465000	0.83290	0.655000	0.94253	.		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Intron	3	46	0	0	0	0	3	46				
AGO2	27161	broad.mit.edu	37	8	141557665	141557665	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:141557665C>G	ENST00000220592.5	-	13	1762	c.1650G>C	c.(1648-1650)aaG>aaC	p.K550N	AGO2_ENST00000519980.1_Missense_Mutation_p.K550N	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	550	Interaction with guide RNA.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCTGCACGTTCTTCATCTGCA	0.627																																						uc003yvn.2		NA																	0					0						c.(1648-1650)AAG>AAC		argonaute 2 isoform 1							241.0	180.0	201.0					8																	141557665		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141557665C>G	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1650G>C	8.37:g.141557665C>G	ENSP00000220592:p.Lys550Asn					EIF2C2_uc010men.2_Missense_Mutation_p.K473N|EIF2C2_uc010meo.2_Missense_Mutation_p.K550N	p.K550N	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		13	1690	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	550			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1650G>C	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162460	0.57368	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.33438	1.41;1.41	5.69	4.71	0.59529	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.81942	2.565	0.58432	D	0.999997	P;P	0.45126	0.82;0.851	P;P	0.48873	0.458;0.593	T	0.44360	-0.9333	10	0.87932	D	0	-20.2221	6.4471	0.21882	0.0:0.7103:0.0:0.2897	.	550;550	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	N	550	ENSP00000220592:K550N;ENSP00000430176:K550N	ENSP00000220592:K550N	K	-	3	2	EIF2C2	141626847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.373000	0.34272	2.674000	0.91012	0.655000	0.94253	AAG		0.627	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			44	117	0	0	0	0	44	117				
EEF1D	1936	broad.mit.edu	37	8	144659233	144659233	+	IGR	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:144659233G>A	ENST00000529272.1	-	0	1311				RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Splice_Site_p.P228L|NAPRT1_ENST00000449291.2_Splice_Site_p.P228L|NAPRT1_ENST00000276844.7_Splice_Site_p.P228L|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000435154.3_Splice_Site_p.P228L|RP11-661A12.9_ENST00000531730.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGACTGACCGGGTCAGGGGG	0.677																																						uc003yym.3		NA																	0				ovary(1)	1						c.(682-684)CCG>CTG		nicotinate phosphoribosyltransferase domain							36.0	39.0	38.0					8																	144659233		2201	4300	6501	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144659233G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659233G>A						NAPRT1_uc003yyn.3_Missense_Mutation_p.P228L|NAPRT1_uc011lkh.1_Missense_Mutation_p.P228L|NAPRT1_uc003yyo.3_Missense_Mutation_p.P228L	p.P228L	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	708	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		228					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.683C>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466278	0.43839	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;0.99	4.39	3.49	0.39957	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.619677	0.16607	N	0.207092	T	0.16938	0.0407	N	0.08118	0	0.45777	D	0.998662	P;P;P;P	0.43788	0.491;0.817;0.802;0.701	B;B;B;B	0.32393	0.024;0.145;0.08;0.036	T	0.02307	-1.1179	10	0.40728	T	0.16	-41.6296	6.9472	0.24526	0.2075:0.0:0.7925:0.0	.	228;228;228;228	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	L	228	ENSP00000405670:P228L;ENSP00000401508:P228L;ENSP00000341136:P228L;ENSP00000390949:P228L;ENSP00000276844:P228L	ENSP00000276844:P228L	P	-	2	0	NAPRT1	144730376	0.046000	0.20272	1.000000	0.80357	0.738000	0.42128	0.269000	0.18589	2.238000	0.73509	0.655000	0.94253	CCG		0.677	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		7	82	0	0	0	0	7	82				
KIAA1161	57462	broad.mit.edu	37	9	34371689	34371689	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:34371689C>T	ENST00000297625.7	-	2	1376	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	418					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCAGGTAACCGGCCCGTGGG	0.672																																						uc003zue.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1252-1254)CGG>CAG		hypothetical protein LOC57462							19.0	23.0	22.0					9																	34371689		2003	4147	6150	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371689C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1151G>A	9.37:g.34371689C>T	ENSP00000297625:p.Arg384Gln						p.R418Q	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	1420	-			418			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1253G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852805	0.32699	.	.	ENSG00000164976	ENST00000297625	D	0.91180	-2.8	5.08	5.08	0.68730	Glycoside hydrolase, superfamily (1);	0.124723	0.56097	D	0.000036	T	0.81754	0.4889	N	0.17872	0.535	0.42593	D	0.993253	B	0.34015	0.435	B	0.24394	0.053	T	0.80464	-0.1371	10	0.16896	T	0.51	-28.74	17.0709	0.86573	0.0:1.0:0.0:0.0	.	418	Q6NSJ0	K1161_HUMAN	Q	384	ENSP00000297625:R384Q	ENSP00000297625:R384Q	R	-	2	0	KIAA1161	34361689	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.882000	0.48546	2.364000	0.80123	0.462000	0.41574	CGG		0.672	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		5	25	0	0	0	0	5	25				
TRPM6	140803	broad.mit.edu	37	9	77377269	77377269	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:77377269G>A	ENST00000360774.1	-	26	4555	c.4318C>T	c.(4318-4320)Ctt>Ttt	p.L1440F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1435F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1435F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1440F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1440F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1440					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTGGGAAAGAGGGGAGCTC	0.473																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4318-4320)CTT>TTT		transient receptor potential cation channel,							110.0	103.0	105.0					9																	77377269		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377269G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4318C>T	9.37:g.77377269G>A	ENSP00000354006:p.Leu1440Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.L1435F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.L396F	p.L1440F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4556	-			1440			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4318C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	1.634	-0.518211	0.04171	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55413	0.62;0.62;0.62;0.62;0.52	5.81	4.91	0.64330	.	0.485574	0.24366	N	0.039151	T	0.35098	0.0920	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31790	0.229;0.34;0.34	B;B;B	0.30495	0.054;0.116;0.116	T	0.30119	-0.9989	10	0.59425	D	0.04	.	7.5402	0.27733	0.1399:0.0:0.7257:0.1344	.	1440;1435;1435	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	F	1440;1440;1435;1435;1440;1103;1103	ENSP00000354006:L1440F;ENSP00000407341:L1440F;ENSP00000396672:L1435F;ENSP00000354962:L1435F;ENSP00000366060:L1440F	ENSP00000309693:L1103F	L	-	1	0	TRPM6	76567089	0.993000	0.37304	0.457000	0.27056	0.094000	0.18550	2.679000	0.46909	1.467000	0.48044	0.655000	0.94253	CTT;CTT;CTT;CTT;CTT;CTC;CTT		0.473	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	207	0	0	0	0	44	207				
ZNF169	169841	broad.mit.edu	37	9	97062822	97062822	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:97062822C>T	ENST00000395395.2	+	5	1072	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCGAGGCTTTCGCCAGAAGAT	0.542																																						uc004aum.1		NA																	0				ovary(2)	2						c.(982-984)CGC>TGC		zinc finger protein 169							100.0	94.0	96.0					9																	97062822		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062822C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.982C>T	9.37:g.97062822C>T	ENSP00000378792:p.Arg328Cys						p.R328C	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	1087	+		Acute lymphoblastic leukemia(62;0.136)	328			C2H2-type 4.		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.982C>T	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582291	0.28180	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.36699	1.24	2.83	0.754	0.18410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40222	0.1108	L	0.31065	0.9	0.09310	N	0.999995	D	0.89917	1.0	D	0.72625	0.978	T	0.16748	-1.0392	9	0.45353	T	0.12	.	4.8517	0.13540	0.249:0.6237:0.0:0.1273	.	328	Q14929	ZN169_HUMAN	C	328;137	ENSP00000378792:R328C	ENSP00000340711:R137C	R	+	1	0	ZNF169	96102643	0.000000	0.05858	0.344000	0.25628	0.547000	0.35210	-0.463000	0.06696	0.186000	0.20125	-0.199000	0.12753	CGC		0.542	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		45	269	0	0	0	0	45	269				
ZNF510	22869	broad.mit.edu	37	9	99521950	99521950	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:99521950T>A	ENST00000375231.1	-	6	1812	c.1162A>T	c.(1162-1164)Acg>Tcg	p.T388S	ZNF510_ENST00000223428.4_Missense_Mutation_p.T388S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	388					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)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAACCGACGTCTGGTAGGAT	0.393																																						uc004awn.1		NA																	0					0						c.(1162-1164)ACG>TCG		zinc finger protein 510							150.0	145.0	147.0					9																	99521950		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521950T>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1162A>T	9.37:g.99521950T>A	ENSP00000364379:p.Thr388Ser					ZNF510_uc004awo.1_Missense_Mutation_p.T388S	p.T388S	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1351	-		Acute lymphoblastic leukemia(62;0.0527)	388					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1162A>T	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	t	9.963	1.223277	0.22457	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.00966	5.49;5.49	3.56	1.08	0.20341	.	.	.	.	.	T	0.00496	0.0016	N	0.04387	-0.21	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47661	-0.9100	9	0.25751	T	0.34	.	0.8503	0.01171	0.1979:0.1153:0.2041:0.4828	.	388	Q9Y2H8	ZN510_HUMAN	S	388	ENSP00000364379:T388S;ENSP00000223428:T388S	ENSP00000223428:T388S	T	-	1	0	ZNF510	98561771	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.425000	0.07017	0.107000	0.17824	0.459000	0.35465	ACG		0.393	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		82	445	0	0	0	0	82	445				
NANS	54187	broad.mit.edu	37	9	100845233	100845233	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:100845233G>A	ENST00000210444.5	+	6	1046	c.976G>A	c.(976-978)Gac>Aac	p.D326N	TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	326	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCCTCCTGAAGACATCTTTAA	0.458																																						uc004ayb.2		NA																	0				skin(1)	1						c.(976-978)GAC>AAC		N-acetylneuraminic acid phosphate synthase							97.0	90.0	93.0					9																	100845233		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100845233G>A	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.976G>A	9.37:g.100845233G>A	ENSP00000210444:p.Asp326Asn					NANS_uc004ayc.2_Missense_Mutation_p.D326N|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	p.D326N	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN			7	1618	+		Acute lymphoblastic leukemia(62;0.0559)	326			AFP-like.		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.976G>A	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250786	0.39797	.	.	ENSG00000095380	ENST00000210444	T	0.44083	0.93	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (3);SAF domain (2);	0.224203	0.52532	D	0.000065	T	0.36963	0.0986	L	0.39147	1.195	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.06770	-1.0808	10	0.27082	T	0.32	-42.836	17.4913	0.87704	0.0:0.0:1.0:0.0	.	326	Q9NR45	SIAS_HUMAN	N	326	ENSP00000210444:D326N	ENSP00000210444:D326N	D	+	1	0	NANS	99885054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.530000	0.60595	2.822000	0.97130	0.650000	0.86243	GAC		0.458	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		24	125	0	0	0	0	24	125				
OR13C4	138804	broad.mit.edu	37	9	107288872	107288872	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:107288872G>T	ENST00000277216.3	-	1	618	c.619C>A	c.(619-621)Cta>Ata	p.L207I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGAAGAACTAGGAAAGCAATA	0.383																																						uc011lvn.1		NA																	0				skin(1)	1						c.(619-621)CTA>ATA		olfactory receptor, family 13, subfamily C,							105.0	109.0	108.0					9																	107288872		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288872G>T		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.619C>A	9.37:g.107288872G>T	ENSP00000277216:p.Leu207Ile						p.L207I	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	619	-			207			Helical; Name=5; (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.619C>A	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931582	0.18131	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.37584	1.19	4.12	0.999	0.19862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	U	0.002774	T	0.31389	0.0795	L	0.48986	1.54	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.14254	-1.0479	10	0.49607	T	0.09	.	3.0722	0.06235	0.3186:0.0:0.4913:0.1902	.	207	Q8NGS5	O13C4_HUMAN	I	207;236	ENSP00000277216:L207I	ENSP00000277216:L207I	L	-	1	2	OR13C4	106328693	0.000000	0.05858	0.983000	0.44433	0.157000	0.22087	-0.850000	0.04317	0.484000	0.27630	0.585000	0.79938	CTA		0.383	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			64	137	1	0	1.49e-21	1.62e-21	64	137				
ENTPD8	377841	broad.mit.edu	37	9	140332687	140332687	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:140332687C>T	ENST00000472938.1	-	1	67	c.51G>A	c.(49-51)tcG>tcA	p.S17S	ENTPD8_ENST00000371506.2_Silent_p.S17S|ENTPD8_ENST00000344119.2_Silent_p.S17S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	17					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGACCCCCGAGGCCCCCA	0.697																																						uc004cmw.2		NA																	0				skin(1)	1						c.(49-51)TCG>TCA		ectonucleoside triphosphate diphosphohydrolase 8							27.0	33.0	31.0					9																	140332687		2177	4293	6470	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332687C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.51G>A	9.37:g.140332687C>T						C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.S17S|ENTPD8_uc004cmy.2_Silent_p.S17S	p.S17S	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	2	235	-	all_cancers(76;0.0926)		17			Helical; (Potential).		A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.51G>A	CCDS43913.1																																																																																				0.697	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		6	27	0	0	0	0	6	27				
PAGE2	203569	broad.mit.edu	37	X	55117016	55117016	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chrX:55117016G>A	ENST00000374968.4	+	3	270	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PAGE2_ENST00000374965.1_Intron	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	56										endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TGGGGAGATTGAAAATCAAGC	0.443																																						uc004duf.1		NA																	0				ovary(2)	2						c.(166-168)GAA>AAA		P antigen family, member 2							85.0	70.0	75.0					X																	55117016		2168	4288	6456	SO:0001583	missense	203569							g.chrX:55117016G>A	BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"""G antigen, family C, 2"""	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.166G>A	X.37:g.55117016G>A	ENSP00000364107:p.Glu56Lys						p.E56K	NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN			3	220	+			56					Q5JRK7|Q5JRK8	Missense_Mutation	SNP	ENST00000374968.4	37	c.166G>A	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	a	5.498	0.276877	0.10403	.	.	ENSG00000234068	ENST00000374968;ENST00000449097	T;T	0.12147	2.71;2.71	0.921	0.921	0.19403	.	.	.	.	.	T	0.10465	0.0256	L	0.41824	1.3	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.28522	-1.0041	9	0.45353	T	0.12	.	4.885	0.13699	0.0:0.0:1.0:0.0	.	56	Q7Z2X7	GGEE2_HUMAN	K	56	ENSP00000364107:E56K;ENSP00000392976:E56K	ENSP00000364107:E56K	E	+	1	0	PAGE2	55133741	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.013000	0.12678	0.736000	0.32559	0.181000	0.17075	GAA		0.443	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339		9	11	0	0	0	0	9	11				
RSF1	51773	broad.mit.edu	37	11	77394814	77394814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:77394814delT	ENST00000308488.6	-	11	3308	c.3006delA	c.(3004-3006)aaafs	p.K1002fs	RSF1_ENST00000480887.1_Frame_Shift_Del_p.K750fs|RSF1_ENST00000360355.2_Frame_Shift_Del_p.K971fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1002					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTGCTTTGGATTTTTTTGAAT	0.323																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(3004-3006)AAAfs		remodeling and spacing factor 1							166.0	148.0	154.0					11																	77394814		2199	4290	6489	SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77394814delT	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3006delA	11.37:g.77394814delT	ENSP00000311513:p.Lys1002fs					RSF1_uc001oym.2_Frame_Shift_Del_p.K750fs	p.K1002fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		11	3126	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1002			Potential.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Del	DEL	ENST00000308488.6	37	c.3006delA	CCDS8253.1																																																																																				0.323	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		28	88	NA	NA	NA	NA	28	88	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578192	7578193	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578192_7578193delGG	ENST00000269305.4	-	6	845_846	c.656_657delCC	c.(655-657)cccfs	p.P219fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P219fs	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	219	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.P219P(4)|p.P219L(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.P219R(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)|p.P219H(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)	GCGGCTCATAGGGCACCACCAC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		38	Unknown(11)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Substitution - coding silent(4)	p.0?(7)|p.P219S(4)|p.P219P(4)|p.P219L(3)|p.P219T(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.?(1)|p.P219R(1)|p.V218_P219insX(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.K164_P219del(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)|p.P219H(1)	biliary_tract(5)|endometrium(5)|upper_aerodigestive_tract(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|central_nervous_system(2)|liver(2)|breast(2)|stomach(1)|urinary_tract(1)|skin(1)|lung(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(655-657)CCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578192_7578193delGG	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.656_657delCC	17.37:g.7578192_7578193delGG	ENSP00000269305:p.Pro219fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P219fs|TP53_uc002gih.2_Frame_Shift_Del_p.P219fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P87fs|TP53_uc010cng.1_Frame_Shift_Del_p.P87fs|TP53_uc002gii.1_Frame_Shift_Del_p.P87fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P219fs|TP53_uc010cni.1_Frame_Shift_Del_p.P219fs|TP53_uc002gij.2_Frame_Shift_Del_p.P219fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.P126fs|TP53_uc002gio.2_Frame_Shift_Del_p.P87fs|TP53_uc010vug.1_Frame_Shift_Del_p.P180fs	p.P219fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	850_851	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	219		P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.656_657delCC	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	22	NA	NA	NA	NA	23	22	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69195943	69195944	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:69195943_69195944delAC	ENST00000344157.4	-	8	1542_1543	c.1207_1208delGT	c.(1207-1209)gtcfs	p.V403fs	YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.V385fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.V403fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	403	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTCTCTCTGACAGAAAATATT	0.277																																						uc003hdx.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1207-1209)GTCfs		splicing factor YT521-B isoform 1																																				SO:0001589	frameshift_variant	91746							g.chr4:69195943_69195944delAC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1207_1208delGT	4.37:g.69195943_69195944delAC	ENSP00000339245:p.Val403fs					YTHDC1_uc003hdy.2_Frame_Shift_Del_p.V385fs	p.V403fs	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			8	1560_1561	-			403			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Frame_Shift_Del	DEL	ENST00000344157.4	37	c.1207_1208delGT	CCDS33992.1																																																																																				0.277	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		8	41	NA	NA	NA	NA	8	41	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39139348	39139348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:39139348delC	ENST00000351578.6	-	5	1536	c.1346delG	c.(1345-1347)ggafs	p.G449fs	FYB_ENST00000505428.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000540520.1_Frame_Shift_Del_p.G459fs|FYB_ENST00000515010.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000512982.1_Frame_Shift_Del_p.G449fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	449					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTAGATTTCCAGCACCTAA	0.244																																						uc003jls.2		NA																	0				ovary(2)	2						c.(1345-1347)GGAfs		FYN binding protein (FYB-120/130) isoform 2							12.0	11.0	12.0					5																	39139348		1720	3898	5618	SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39139348delC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1346delG	5.37:g.39139348delC	ENSP00000316460:p.Gly449fs					FYB_uc003jlt.2_Frame_Shift_Del_p.G449fs|FYB_uc003jlu.2_Frame_Shift_Del_p.G449fs|FYB_uc011cpl.1_Frame_Shift_Del_p.G459fs	p.G449fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		4	1413	-	all_lung(31;0.000343)		449					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Del	DEL	ENST00000351578.6	37	c.1346delG	CCDS47200.1																																																																																				0.244	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		2	4	NA	NA	NA	NA	2	4	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94027705	94027705	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:94027705delA	ENST00000297268.6	+	3	564	c.93delA	c.(91-93)agafs	p.R31fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	31					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACTGTAAGAAAGGTAAGAG	0.234										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(91-93)AGAfs		alpha 2 type I collagen precursor	Collagenase(DB00048)						7.0	8.0	8.0					7																	94027705		1878	3924	5802	SO:0001589	frameshift_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94027705delA	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.93delA	7.37:g.94027705delA	ENSP00000297268:p.Arg31fs	HNSCC(75;0.22)				COL1A2_uc011kib.1_Frame_Shift_Del_p.R31fs	p.R31fs	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	564	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		31					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Frame_Shift_Del	DEL	ENST00000297268.6	37	c.93delA	CCDS34682.1																																																																																				0.234	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		2	4	NA	NA	NA	NA	2	4	---	---	---	---
