#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
IL2RA	3559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	6061422	6061422	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:6061422C>T	ENST00000379959.3	-	6	869	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T|SNORA14_ENST00000516113.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	232					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468																																																0													220.0	188.0	199.0					10																	6061422		2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.696G>A	10.37:g.6061422C>T			Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	2.290	-0.362775	0.05103	.	.	ENSG00000134460	ENST00000447847	.	.	.	3.46	-0.779	0.10973	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	-43.4304	6.33	0.21264	0.0:0.4376:0.0:0.5624	.	.	.	.	H	107	.	.	R	-	2	0	IL2RA	6101428	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-2.863000	0.00725	-0.162000	0.10964	-0.379000	0.06801	CGT		0.468	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		35	92	35	92
SUPV3L1	6832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	70940084	70940084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:70940084C>T	ENST00000359655.4	+	1	97	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	13					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCGGCTCCCGGCGGGGCG	0.687																																																0													24.0	28.0	27.0					10																	70940084		2201	4299	6500	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.37C>T	10.37:g.70940084C>T	ENSP00000352678:p.Pro13Ser		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542065	0.27563	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.33654	1.56;1.4	5.78	2.91	0.33838	.	0.511218	0.20301	N	0.095035	T	0.20861	0.0502	N	0.22421	0.69	0.30888	N	0.730701	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	10	0.18710	T	0.47	-0.265	7.7439	0.28858	0.0:0.722:0.1332:0.1449	.	13	Q8IYB8	SUV3_HUMAN	S	13	ENSP00000352678:P13S;ENSP00000409072:P13S	ENSP00000352678:P13S	P	+	1	0	SUPV3L1	70610090	1.000000	0.71417	0.966000	0.40874	0.221000	0.24807	2.785000	0.47782	0.349000	0.23975	-0.137000	0.14449	CCG		0.687	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		16	80	16	80
TRUB1	142940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	116710901	116710901	+	Missense_Mutation	SNP	G	G	T	rs139774976		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:116710901G>T	ENST00000298746.3	+	3	495	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	145					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGTTGTCAGGGTCCAAGGTA	0.299																																																0													187.0	190.0	189.0					10																	116710901		2203	4300	6503	SO:0001583	missense	142940			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.434G>T	10.37:g.116710901G>T	ENSP00000298746:p.Gly145Val		B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314165	0.60414	.	.	ENSG00000165832	ENST00000298746	T	0.51817	0.69	5.42	4.48	0.54585	Pseudouridine synthase, catalytic domain (1);	0.048813	0.85682	D	0.000000	T	0.51210	0.1661	L	0.60067	1.865	0.80722	D	1	P	0.41624	0.757	P	0.48141	0.568	T	0.53457	-0.8436	10	0.62326	D	0.03	-10.9097	9.0914	0.36612	0.1089:0.0:0.8911:0.0	.	145	Q8WWH5	TRUB1_HUMAN	V	145	ENSP00000298746:G145V	ENSP00000298746:G145V	G	+	2	0	TRUB1	116700891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.433000	0.59929	1.328000	0.45358	0.591000	0.81541	GGG		0.299	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		19	102	19	102
TEAD1	7003	hgsc.bcm.edu;broad.mit.edu	37	11	12886385	12886385	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:12886385G>A	ENST00000527575.1	+	4	381	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TEAD1_ENST00000527636.1_Splice_Site_p.V90M|TEAD1_ENST00000334310.6_Splice_Site_p.V75M|TEAD1_ENST00000361905.4_Splice_Site_p.V75M|TEAD1_ENST00000361985.2_Splice_Site_p.V90M			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	90					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACCCTGCAGGTGTCTAGTCA	0.478																																																0													221.0	192.0	202.0					11																	12886385		2200	4294	6494	SO:0001630	splice_region_variant	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.268-1G>A	11.37:g.12886385G>A			A4FUP2|E7EV65	Splice_Site	SNP	ENST00000527575.1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.132283	0.77662	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81607	0.4858	H	0.94183	3.505	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85776	0.1358	10	0.87932	D	0	-13.0732	19.9446	0.97177	0.0:0.0:1.0:0.0	.	90	P28347	TEAD1_HUMAN	M	75;90;90;75;90	ENSP00000355332:V75M;ENSP00000435233:V90M;ENSP00000435977:V90M;ENSP00000334754:V75M;ENSP00000354588:V90M	ENSP00000334754:V75M	V	+	1	0	TEAD1	12842961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.814000	0.96858	0.591000	0.81541	GTG		0.478	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961	Missense_Mutation	9	112	9	112
CHST1	8534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	45672219	45672219	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:45672219G>A	ENST00000308064.2	-	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	85					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTAGAAGACGTCCAGGTGCT	0.642																																																0													73.0	71.0	72.0					11																	45672219		2203	4299	6502	SO:0001819	synonymous_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.255C>T	11.37:g.45672219G>A			D3DQP2	Silent	SNP	ENST00000308064.2	37	CCDS7913.1																																																																																				0.642	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		22	108	22	108
ATG2A	23130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	64684532	64684532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64684532C>T	ENST00000377264.3	-	1	188	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	ATG2A_ENST00000421419.2_Missense_Mutation_p.G26S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	26					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGAAGTGACCTAAGTAGTGG	0.597																																																0													94.0	78.0	83.0					11																	64684532		2201	4297	6498	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.76G>A	11.37:g.64684532C>T	ENSP00000366475:p.Gly26Ser		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.913762|4.913762	0.92178|0.92178	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459|ENST00000377262	T;T|.	0.57273|.	0.41;0.41|.	4.95|4.95	4.04|4.04	0.47022|0.47022	.|.	0.059597|.	0.64402|.	N|.	0.000003|.	T|T	0.74604|0.74604	0.3738|0.3738	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.62365|.	0.991|.	P|.	0.60541|.	0.876|.	T|T	0.78295|0.78295	-0.2259|-0.2259	10|6	0.87932|0.87932	D|D	0|0	.|.	11.5644|11.5644	0.50796|0.50796	0.0:0.9108:0.0:0.0892|0.0:0.9108:0.0:0.0892	.|.	26|.	Q2TAZ0|.	ATG2A_HUMAN|.	S|K	26|23	ENSP00000410522:G26S;ENSP00000366475:G26S|.	ENSP00000227459:G26S|ENSP00000366473:R23K	G|R	-|-	1|2	0|0	ATG2A|ATG2A	64441108|64441108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	5.150000|5.150000	0.64869|0.64869	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	GGT|AGG		0.597	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		10	81	10	81
SLCO1B3	28234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	21030809	21030809	+	Silent	SNP	C	C	T	rs145036538		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:21030809C>T	ENST00000381545.3	+	10	1293	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	358					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTTTTACTTACGTCTTTAAAT	0.338													.|||	1	0.000199681	0.0	0.0	5008	,	,		12809	0.0		0.0	False		,,,				2504	0.001															0								C		0,4406		0,0,2203	136.0	135.0	135.0		1074	-4.0	0.0	12	dbSNP_134	135	1,8597		0,1,4298	no	coding-synonymous	SLCO1B3	NM_019844.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		358/703	21030809	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1074C>T	12.37:g.21030809C>T			E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		13	54	13	54
NFYB	4801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104517157	104517157	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:104517157C>T	ENST00000240055.3	-	5	503	c.276G>A	c.(274-276)gaG>gaA	p.E92E	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Silent_p.E92E	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	92	B domain.|Subunit association domain (SAD). {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGATGAACTCACTTACAC	0.343																																																0													122.0	111.0	115.0					12																	104517157		2202	4300	6502	SO:0001819	synonymous_variant	4801				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.276G>A	12.37:g.104517157C>T			A8K7B9|Q96IY8	Silent	SNP	ENST00000240055.3	37	CCDS9098.1																																																																																				0.343	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			18	21	18	21
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	G	rs587782272		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:7574034C>G	ENST00000269305.4	-	10	1183		c.e10-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron	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						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.?(9)|p.0?(8)|p.I332fs*49(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)	GCCCACGGATCTGCAGCAACA	0.512		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	18	Unknown(9)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|stomach(1)|breast(1)|ovary(1)	GRCh37	CS002470|CS033842	TP53	S							44.0	36.0	39.0					17																	7574034		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.994-1G>C	17.37:g.7574034C>G			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051594	0.36181	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514759	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	6.410000	0.73294	2.549000	0.85964	0.561000	0.74099	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	30	8	30	8
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10304026	10304026	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:10304026C>T	ENST00000403437.2	-	27	3510	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1139					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGGTCAGAGCGCTGCTTCTC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													58.0	66.0	63.0					17																	10304026		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3416G>A	17.37:g.10304026C>T	ENSP00000384330:p.Arg1139His		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880046	0.91740	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82711	-1.64	5.48	5.48	0.80851	Myosin tail (1);	0.000000	0.39759	U	0.001274	D	0.92312	0.7561	H	0.96576	3.845	0.58432	D	0.999999	P	0.50710	0.938	P	0.50352	0.638	D	0.94414	0.7634	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1139	P13535	MYH8_HUMAN	H	1139	ENSP00000384330:R1139H	ENSP00000252173:R1139H	R	-	2	0	MYH8	10244751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.534000	0.82004	2.861000	0.98227	0.650000	0.86243	CGC		0.572	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		24	131	24	131
EVI2B	2124	hgsc.bcm.edu;broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:29632058A>C	ENST00000330927.4	-	2	724	c.570T>G	c.(568-570)agT>agG	p.S190R	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338																																																11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											187.0	189.0	188.0					17																	29632058		2203	4300	6503	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.570T>G	17.37:g.29632058A>C	ENSP00000333779:p.Ser190Arg		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704574	0.30232	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.48201	0.82;0.82	5.22	2.9	0.33743	.	0.667620	0.13484	N	0.384495	T	0.34890	0.0913	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.23190	-1.0195	10	0.39692	T	0.17	-21.0591	5.9124	0.19035	0.7691:0.0:0.0845:0.1465	.	205;190	B7Z4A7;P34910	.;EVI2B_HUMAN	R	190;205	ENSP00000333779:S190R;ENSP00000439738:S205R	ENSP00000333779:S190R	S	-	3	2	EVI2B	26656184	0.000000	0.05858	0.013000	0.15412	0.158000	0.22134	-0.239000	0.08965	0.799000	0.34018	0.402000	0.26972	AGT		0.338	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		12	143	12	143
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8201077	8201077	+	Missense_Mutation	SNP	C	C	T	rs201458670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:8201077C>T	ENST00000600128.1	-	12	1876	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	FBN3_ENST00000601739.1_Missense_Mutation_p.V488M|FBN3_ENST00000270509.2_Missense_Mutation_p.V488M			Q75N90	FBN3_HUMAN	fibrillin 3	488	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGTACCCACGCATGCCTGC	0.667																																																0													68.0	62.0	64.0					19																	8201077		2203	4299	6502	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1462G>A	19.37:g.8201077C>T	ENSP00000470498:p.Val488Met		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	8.183	0.794306	0.16327	.	.	ENSG00000142449	ENST00000270509	D	0.95853	-3.83	3.78	0.203	0.15195	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.339319	0.24879	U	0.034865	D	0.90683	0.7077	M	0.69358	2.11	0.20489	N	0.999899	P	0.48998	0.918	B	0.37780	0.258	T	0.83330	-0.0013	10	0.33141	T	0.24	.	3.6818	0.08313	0.0:0.2765:0.4496:0.2739	.	488	Q75N90	FBN3_HUMAN	M	488	ENSP00000270509:V488M	ENSP00000270509:V488M	V	-	1	0	FBN3	8107077	0.449000	0.25689	0.851000	0.33527	0.158000	0.22134	1.066000	0.30604	0.086000	0.17137	0.655000	0.94253	GTG		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		11	97	11	97
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:9046871G>A	ENST00000397910.4	-	5	34963	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11589	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)				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						CCCAGAAACCGTTGTGCTGGT	0.522																																																0													138.0	135.0	136.0					19																	9046871		1974	4153	6127	SO:0001583	missense	94025			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.34760C>T	19.37:g.9046871G>A	ENSP00000381008:p.Thr11587Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.826	-0.470961	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.02067	4.47	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01976	0.0062	L	0.38838	1.175	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.42582	-0.9443	8	0.87932	D	0	.	5.8913	0.18915	0.196:0.0:0.6722:0.1318	.	11587	B5ME49	.	M	11587	ENSP00000381008:T11587M	ENSP00000381008:T11587M	T	-	2	0	MUC16	8907871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.521000	0.02239	-1.083000	0.03097	-3.395000	0.00039	ACG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	57	15	57
PRR19	284338	hgsc.bcm.edu;broad.mit.edu	37	19	42814703	42814703	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:42814703G>A	ENST00000499536.2	+	2	1693	c.882G>A	c.(880-882)acG>acA	p.T294T	TMEM145_ENST00000301204.3_5'Flank|PRR19_ENST00000341747.3_Silent_p.T294T|PRR19_ENST00000598490.1_3'UTR|TMEM145_ENST00000598766.1_5'Flank			A6NJB7	PRR19_HUMAN	proline rich 19	294	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTAGCCACGCCACCCCCTC	0.627																																																0													78.0	83.0	81.0					19																	42814703		2203	4300	6503	SO:0001819	synonymous_variant	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.882G>A	19.37:g.42814703G>A			A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	CCDS33036.1																																																																																				0.627	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		11	174	11	174
GPR4	2828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											0													87.0	70.0	76.0					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		17	121	17	121
CPT1C	126129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	50203968	50203968	+	Silent	SNP	G	G	A	rs141969670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:50203968G>A	ENST00000392518.4	+	5	681	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CPT1C_ENST00000354199.5_Silent_p.G103G|CPT1C_ENST00000598293.1_Silent_p.G103G|CPT1C_ENST00000323446.5_Silent_p.G103G|CPT1C_ENST00000405931.2_Silent_p.G103G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	103					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTCCGGGGGGTCCTGGCAG	0.662																																																0													93.0	88.0	90.0					19																	50203968		2203	4300	6503	SO:0001819	synonymous_variant	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.309G>A	19.37:g.50203968G>A			A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	CCDS12779.1																																																																																				0.662	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		20	213	20	213
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55501464	55501464	+	Missense_Mutation	SNP	C	C	T	rs370914730		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:55501464C>T	ENST00000543010.1	+	9	2584	c.2441C>T	c.(2440-2442)aCg>aTg	p.T814M	NLRP2_ENST00000538819.1_Missense_Mutation_p.T790M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T792M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T791M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T792M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T790M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T814M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T811M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	814					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGTCCCTGACGTGCGTAAAC	0.517																																																0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	136.0	115.0	122.0		2441,2375,2372,2441	-2.1	0.0	19		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	814/1063,792/1041,791/1040,814/1063	55501464	1,13005	2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2441C>T	19.37:g.55501464C>T	ENSP00000445135:p.Thr814Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	6.478	0.456330	0.12283	0.0	1.16E-4	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	2.55	-2.11	0.07187	.	.	.	.	.	T	0.47173	0.1431	M	0.62154	1.92	0.09310	N	1	B;B;B;B;B	0.29805	0.257;0.05;0.034;0.027;0.034	B;B;B;B;B	0.33254	0.16;0.027;0.072;0.043;0.072	T	0.44050	-0.9353	9	0.51188	T	0.08	.	7.8306	0.29340	0.0:0.5132:0.0:0.4868	.	791;792;811;790;814	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	814;790;792;814;792;791;790;811	ENSP00000445135:T814M;ENSP00000375601:T790M;ENSP00000344074:T792M;ENSP00000409370:T814M;ENSP00000440601:T792M;ENSP00000402474:T791M;ENSP00000441133:T790M;ENSP00000263437:T811M	ENSP00000263437:T811M	T	+	2	0	NLRP2	60193276	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.403000	0.02497	-0.808000	0.04387	-1.814000	0.00607	ACG		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		46	54	46	54
NOC2L	26155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	883983	883983	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:883983T>C	ENST00000327044.6	-	13	1493	c.1444A>G	c.(1444-1446)Atg>Gtg	p.M482V		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	482					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTGGAACATCTGCCCCAAG	0.622																																																0													93.0	71.0	78.0					1																	883983		2203	4300	6503	SO:0001630	splice_region_variant	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1444-1A>G	1.37:g.883983T>C			Q5SVA3|Q9BTN6	Splice_Site	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.616654	0.00828	.	.	ENSG00000188976	ENST00000327044	T	0.64260	-0.09	5.53	-1.99	0.07457	Armadillo-type fold (1);	0.511439	0.20463	N	0.091854	T	0.23094	0.0558	N	0.00859	-1.14	0.27239	N	0.959183	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38972	-0.9636	10	0.02654	T	1	-4.9374	12.6987	0.57018	0.0:0.3612:0.0:0.6388	.	482;482;249	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	V	482	ENSP00000317992:M482V	ENSP00000317992:M482V	M	-	1	0	NOC2L	873846	0.982000	0.34865	0.988000	0.46212	0.576000	0.36127	0.134000	0.15932	-0.196000	0.10366	-0.394000	0.06481	ATG		0.622	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	Missense_Mutation	17	22	17	22
PBXIP1	57326	hgsc.bcm.edu;broad.mit.edu	37	1	154918277	154918277	+	Missense_Mutation	SNP	G	G	A	rs200785325		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:154918277G>A	ENST00000368463.3	-	10	1944	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	PBXIP1_ENST00000542459.1_Missense_Mutation_p.R470W|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R596W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R452W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	625					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGCAGCCGTGCCAAGTAT	0.617																																																0								G	TRP/ARG	0,4406		0,0,2203	61.0	59.0	60.0		1873	4.7	1.0	1		60	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PBXIP1	NM_020524.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	625/732	154918277	2,13004	2203	4300	6503	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1873C>T	1.37:g.154918277G>A	ENSP00000357448:p.Arg625Trp		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106211	0.56291	0.0	2.33E-4	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.13657	2.57;2.58;2.6;2.59	4.72	4.72	0.59763	.	0.241859	0.33180	N	0.005196	T	0.19248	0.0462	M	0.67953	2.075	0.35098	D	0.764945	D	0.76494	0.999	P	0.59703	0.862	T	0.01420	-1.1359	10	0.87932	D	0	-27.5483	10.2822	0.43545	0.0:0.0:0.803:0.1969	.	625	Q96AQ6	PBIP1_HUMAN	W	596;625;452;401;470	ENSP00000357450:R596W;ENSP00000357448:R625W;ENSP00000440142:R452W;ENSP00000438584:R470W	ENSP00000357448:R625W	R	-	1	2	PBXIP1	153184901	0.836000	0.29430	0.970000	0.41538	0.803000	0.45373	1.367000	0.34204	2.445000	0.82738	0.455000	0.32223	CGG		0.617	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		10	104	10	104
RASSF5	83593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	206711607	206711607	+	Silent	SNP	C	C	T	rs138095666		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:206711607C>T	ENST00000355294.4	+	2	621	c.564C>T	c.(562-564)acC>acT	p.T188T	RASSF5_ENST00000367117.3_Silent_p.T188T	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	188					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACCCTCACCGTGACCTTCA	0.592																																					GBM(162;656 1984 11916 22872 31529)											0								C	,	0,4406		0,0,2203	112.0	105.0	108.0		564,564	0.3	0.0	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RASSF5	NM_182663.2,NM_182664.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	188/419,188/337	206711607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83593			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.564C>T	1.37:g.206711607C>T			A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	CCDS30998.1																																																																																				0.592	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		72	115	72	115
SGK2	10110	hgsc.bcm.edu;broad.mit.edu	37	20	42204987	42204987	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:42204987C>G	ENST00000341458.4	+	10	1216	c.997C>G	c.(997-999)Cag>Gag	p.Q333E	SGK2_ENST00000373100.1_Missense_Mutation_p.Q273E|SGK2_ENST00000373077.1_Missense_Mutation_p.Q272E|SGK2_ENST00000373092.3_Missense_Mutation_p.Q273E|SGK2_ENST00000423407.3_Missense_Mutation_p.Q273E|SGK2_ENST00000426287.1_Missense_Mutation_p.Q299E	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGGACCAGAGGCAGCG	0.607																																																0													45.0	48.0	47.0					20																	42204987		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.997C>G	20.37:g.42204987C>G	ENSP00000340608:p.Gln333Glu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116456	0.56505	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.180265	0.51477	D	0.000083	T	0.32704	0.0838	N	0.04508	-0.205	0.58432	D	0.999999	B;B;P	0.35139	0.248;0.292;0.486	B;B;B	0.39299	0.146;0.296;0.281	T	0.42699	-0.9436	10	0.56958	D	0.05	.	17.1874	0.86870	0.0:1.0:0.0:0.0	.	299;333;273	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	E	273;273;272;273;333;299	ENSP00000362192:Q273E;ENSP00000362184:Q273E;ENSP00000362168:Q272E;ENSP00000392795:Q273E;ENSP00000340608:Q333E;ENSP00000412214:Q299E	ENSP00000340608:Q333E	Q	+	1	0	SGK2	41638401	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.054000	0.49908	2.505000	0.84491	0.655000	0.94253	CAG		0.607	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			6	104	6	104
DDX27	55661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	47835985	47835985	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:47835985C>G	ENST00000371764.4	+	1	102	c.93C>G	c.(91-93)aaC>aaG	p.N31K	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	31						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGACAACATGCTTGCGG	0.602																																																0													73.0	62.0	66.0					20																	47835985		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.93C>G	20.37:g.47835985C>G	ENSP00000360828:p.Asn31Lys		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356263	0.24598	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01379	4.96	5.97	4.02	0.46733	.	1.049910	0.07418	N	0.893559	T	0.01189	0.0039	N	0.08118	0	0.23416	N	0.997725	B	0.12630	0.006	B	0.08055	0.003	T	0.49244	-0.8960	10	0.45353	T	0.12	-1.2614	8.1937	0.31383	0.0:0.7585:0.1584:0.0831	.	31	Q96GQ7	DDX27_HUMAN	K	31	ENSP00000360828:N31K	ENSP00000360828:N31K	N	+	3	2	DDX27	47269392	0.994000	0.37717	0.681000	0.30009	0.002000	0.02628	3.442000	0.52900	0.850000	0.35239	-0.175000	0.13238	AAC		0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			20	25	20	25
MGAT3	4248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	39884655	39884655	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr22:39884655G>A	ENST00000341184.6	+	2	1518	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	435					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCGTGTCCGCCCAGAATGG	0.662																																																0													56.0	54.0	55.0					22																	39884655		2203	4300	6503	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1303G>A	22.37:g.39884655G>A	ENSP00000345270:p.Ala435Thr		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655288	0.88056	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.74258	2.255	0.53005	D	0.999968	D	0.57571	0.98	P	0.50970	0.655	T	0.68584	-0.5370	9	0.22706	T	0.39	.	19.5827	0.95475	0.0:0.0:1.0:0.0	.	435	Q09327	MGAT3_HUMAN	T	435	.	ENSP00000345270:A435T	A	+	1	0	MGAT3	38214601	1.000000	0.71417	0.956000	0.39512	0.906000	0.53458	9.272000	0.95707	2.649000	0.89929	0.555000	0.69702	GCC		0.662	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		25	44	25	44
ARID5A	10865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	97217809	97217809	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:97217809C>T	ENST00000357485.3	+	7	1622	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	ARID5A_ENST00000454558.2_Missense_Mutation_p.P447L	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	515					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGGCACCCCGGGCCCCTTG	0.721																																																0													29.0	35.0	33.0					2																	97217809		2200	4299	6499	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1544C>T	2.37:g.97217809C>T	ENSP00000350078:p.Pro515Leu		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.466099	0.01053	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.62639	0.01	4.78	1.83	0.25207	.	0.847457	0.10091	N	0.717215	T	0.35682	0.0940	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.20974	-1.0259	10	0.24483	T	0.36	.	6.8471	0.23994	0.0:0.6864:0.0:0.3136	.	447;515	C9J1Q0;Q03989	.;ARI5A_HUMAN	L	515;447	ENSP00000350078:P515L	ENSP00000350078:P515L	P	+	2	0	ARID5A	96581536	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-0.073000	0.11468	0.259000	0.21709	-0.143000	0.13931	CCG		0.721	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		46	66	46	66
TTN	7273	hgsc.bcm.edu;broad.mit.edu	37	2	179517223	179517223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:179517223G>A	ENST00000591111.1	-	157	34792	c.34568C>T	c.(34567-34569)gCg>gTg	p.A11523V	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A13030V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10596V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	11495	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGAGCCGCTGGCACTTT	0.378																																																0													89.0	98.0	95.0					2																	179517223		1811	4064	5875	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34568C>T	2.37:g.179517223G>A	ENSP00000465570:p.Ala11523Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	g	11.28	1.593576	0.28445	.	.	ENSG00000155657	ENST00000342992	T	0.61510	0.1	5.22	-1.86	0.07760	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42131	0.1189	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28776	-1.0033	8	0.87932	D	0	.	5.4796	0.16717	0.5379:0.0:0.2248:0.2373	.	11523	Q8WZ42	TITIN_HUMAN	V	10596	ENSP00000343764:A10596V	ENSP00000343764:A10596V	A	-	2	0	TTN	179225468	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.797000	0.04570	-0.965000	0.03591	-2.141000	0.00338	GCG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	194	12	194
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	33	32	33
NEU4	129807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	242755717	242755717	+	Silent	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:242755717C>T	ENST00000391969.2	+	3	747	c.36C>T	c.(34-36)ctC>ctT	p.L12L	NEU4_ENST00000405370.1_Silent_p.L12L|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Silent_p.L12L|NEU4_ENST00000404257.1_Silent_p.L24L|NEU4_ENST00000325935.6_Silent_p.L25L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	12					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGACAGTGCTCTTCGAGCGGG	0.697																																																0													36.0	37.0	37.0					2																	242755717		2203	4300	6503	SO:0001819	synonymous_variant	129807			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.36C>T	2.37:g.242755717C>T			A8K056|J3KNJ5|Q96D64	Silent	SNP	ENST00000391969.2	37	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	2.153	-0.394064	0.04899	.	.	ENSG00000204099	ENST00000472793	.	.	.	3.65	-1.5	0.08691	.	0.000000	0.85682	U	0.000000	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36744	-0.9735	6	0.29301	T	0.29	-25.1583	7.9471	0.29993	0.0:0.2862:0.543:0.1708	.	.	.	.	F	36	.	ENSP00000441629:L36F	L	+	1	0	NEU4	242404390	0.008000	0.16893	0.703000	0.30354	0.084000	0.17831	-1.478000	0.02329	-0.313000	0.08728	0.443000	0.29094	CTT		0.697	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		10	49	10	49
ACPP	55	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	132051153	132051153	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:132051153A>G	ENST00000336375.5	+	4	511	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ACPP_ENST00000351273.7_Missense_Mutation_p.I141V|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.I141V	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	141					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGCCCATCCCGGTGCA	0.507																																																0													107.0	94.0	98.0					3																	132051153		2203	4300	6503	SO:0001583	missense	55				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.421A>G	3.37:g.132051153A>G	ENSP00000337471:p.Ile141Val		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664796	0.67700	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.99	4.83	0.62350	.	0.078591	0.53938	N	0.000045	T	0.28300	0.0699	L	0.33293	1	0.48762	D	0.999703	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.01587	-1.1318	10	0.32370	T	0.25	.	11.2635	0.49097	0.9278:0.0:0.0722:0.0	.	141;141;141	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	V	141;112;141;141	ENSP00000337471:I141V;ENSP00000418366:I112V;ENSP00000417744:I141V;ENSP00000323036:I141V	ENSP00000337471:I141V	I	+	1	0	ACPP	133533843	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.088000	0.57678	1.086000	0.41228	0.533000	0.62120	ATC		0.507	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		42	60	42	60
NCK1	4690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	136646967	136646967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:136646967C>T	ENST00000481752.1	+	2	288	c.124C>T	c.(124-126)Cga>Tga	p.R42*	NCK1_ENST00000288986.2_Nonsense_Mutation_p.R42*|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	42	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGCGAGTTCGAAATTCCAT	0.393																																																0													112.0	104.0	106.0					3																	136646967		2203	4300	6503	SO:0001587	stop_gained	4690			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.124C>T	3.37:g.136646967C>T	ENSP00000417273:p.Arg42*		B7Z751|D3DNE3	Nonsense_Mutation	SNP	ENST00000481752.1	37	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	37	6.439589	0.97568	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	.	.	.	5.98	3.09	0.35607	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6224	13.3925	0.60832	0.4389:0.5611:0.0:0.0	.	.	.	.	X	42	.	ENSP00000288986:R42X	R	+	1	2	NCK1	138129657	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	1.780000	0.38634	0.345000	0.23873	0.655000	0.94253	CGA		0.393	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		15	105	15	105
MUC7	4589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	71347104	71347104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:71347104C>T	ENST00000304887.5	+	3	833	c.643C>T	c.(643-645)Cca>Tca	p.P215S	MUC7_ENST00000413702.1_Missense_Mutation_p.P215S|MUC7_ENST00000456088.1_Missense_Mutation_p.P215S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	215	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.597																																																0													422.0	363.0	383.0					4																	71347104		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.643C>T	4.37:g.71347104C>T	ENSP00000302021:p.Pro215Ser		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417109	0.11870	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64085	-0.08;-0.08;-0.08	1.53	1.53	0.23141	.	.	.	.	.	T	0.56702	0.2003	N	0.19112	0.55	0.09310	N	1	D	0.58268	0.982	P	0.60236	0.871	T	0.42766	-0.9432	8	.	.	.	-7.8262	5.7661	0.18227	0.0:0.6574:0.3426:0.0	.	215	Q8TAX7	MUC7_HUMAN	S	215	ENSP00000407422:P215S;ENSP00000400585:P215S;ENSP00000302021:P215S	.	P	+	1	0	MUC7	71381693	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-3.019000	0.00643	1.156000	0.42514	0.655000	0.94253	CCA		0.597	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		105	71	105	71
ANKRD17	26057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	74021734	74021734	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:74021734A>G	ENST00000358602.4	-	4	969		c.e4+1		ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_5'Flank|ANKRD17_ENST00000330838.6_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATAATACGAACCTGTGCAAG	0.353																																																0													103.0	94.0	97.0					4																	74021734		2203	4300	6503	SO:0001630	splice_region_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.852+1T>C	4.37:g.74021734A>G			E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560844	0.86335	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74240598	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.270000	0.75569	0.482000	0.46254	.		0.353	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	27	55	27	55
JADE1	79960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	129792755	129792755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:129792755G>A	ENST00000226319.6	+	11	2147	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	PHF17_ENST00000512960.1_Missense_Mutation_p.G623R|PHF17_ENST00000452328.2_Missense_Mutation_p.G611R	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGAAGGGAGGGGATGGTGGT	0.498																																																0													60.0	65.0	63.0					4																	129792755		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.1867G>A	4.37:g.129792755G>A	ENSP00000226319:p.Gly623Arg			Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229871	0.58777	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.40756	1.02;1.03;1.02	4.59	4.59	0.56863	.	0.369735	0.31041	N	0.008362	T	0.29556	0.0737	L	0.27053	0.805	0.80722	D	1	B;P	0.40476	0.186;0.718	B;B	0.33750	0.039;0.169	T	0.08066	-1.0740	9	.	.	.	.	17.9869	0.89158	0.0:0.0:1.0:0.0	.	611;623	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	R	623;611;623;623	ENSP00000226319:G623R;ENSP00000388015:G611R;ENSP00000425730:G623R	.	G	+	1	0	PHF17	130012205	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	6.140000	0.71738	2.542000	0.85734	0.655000	0.94253	GGG		0.498	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			15	72	15	72
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	13867993	13867993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:13867993C>T	ENST00000265104.4	-	25	4047	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1315	Stem. {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)					TTCTGGACTTCGCCAGCACGT	0.453									Kartagener syndrome																																							0													121.0	107.0	112.0					5																	13867993		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.3943G>A	5.37:g.13867993C>T	ENSP00000265104:p.Glu1315Lys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	6.229	0.410404	0.11812	.	.	ENSG00000039139	ENST00000265104	T	0.23147	1.92	5.12	4.26	0.50523	.	0.161857	0.53938	D	0.000059	T	0.19765	0.0475	L	0.41632	1.29	0.53688	D	0.999979	B	0.12630	0.006	B	0.09377	0.004	T	0.04281	-1.0963	10	0.10111	T	0.7	.	13.5442	0.61693	0.0:0.9244:0.0:0.0756	.	1315	Q8TE73	DYH5_HUMAN	K	1315	ENSP00000265104:E1315K	ENSP00000265104:E1315K	E	-	1	0	DNAH5	13920993	1.000000	0.71417	0.317000	0.25265	0.020000	0.10135	7.394000	0.79862	1.173000	0.42796	-0.136000	0.14681	GAA		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	86	21	86
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	65118664	65118664	+	Missense_Mutation	SNP	T	T	C	rs149642804	byFrequency	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:65118664T>C	ENST00000380985.5	+	13	2214	c.2036T>C	c.(2035-2037)aTg>aCg	p.M679T	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Missense_Mutation_p.M575T	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	679						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGGACGGCATGGACATGCTC	0.433													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0															0													150.0	143.0	145.0					5																	65118664		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2036T>C	5.37:g.65118664T>C	ENSP00000370372:p.Met679Thr		Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	8.924	0.961887	0.18583	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.11712	2.75;2.75;2.75	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.102055	0.85682	D	0.000000	T	0.20373	0.0490	M	0.82193	2.58	0.58432	D	0.999997	B;B	0.17268	0.003;0.021	B;B	0.17722	0.011;0.019	T	0.01541	-1.1329	10	0.54805	T	0.06	-13.4695	16.0707	0.80928	0.0:0.0:0.0:1.0	.	356;679	Q96K48;Q9BYT8	.;NEUL_HUMAN	T	679;575;389	ENSP00000370372:M679T;ENSP00000423214:M575T;ENSP00000427417:M389T	ENSP00000370372:M679T	M	+	2	0	NLN	65154420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.605000	0.54088	2.194000	0.70268	0.533000	0.62120	ATG		0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			74	67	74	67
HSPA9	3313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	137906680	137906680	+	Nonsense_Mutation	SNP	G	G	A	rs35091799	byFrequency	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:137906680G>A	ENST00000297185.3	-	4	504	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	127			R -> G (in dbSNP:rs35091799).		cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATATCGCCGGCCAATG	0.463																																																0													134.0	128.0	130.0					5																	137906680		2203	4300	6503	SO:0001587	stop_gained	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.379C>T	5.37:g.137906680G>A	ENSP00000297185:p.Arg127*		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Nonsense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234699	0.95207	.	.	ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886	.	.	.	5.34	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5229	15.4117	0.74929	0.0:0.0:0.8596:0.1404	.	.	.	.	X	127;113;58;58	.	ENSP00000297185:R127X	R	-	1	2	HSPA9	137934579	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.525000	0.73795	1.373000	0.46208	-0.169000	0.13324	CGA		0.463	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		19	150	19	150
RNF8	9025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	37339288	37339288	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr6:37339288G>T	ENST00000373479.4	+	4	1169	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RNF8_ENST00000469731.1_Splice_Site_p.G326C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	326	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGCTTTGCAGGGTTTGGAGAT	0.468																																																0													67.0	65.0	66.0					6																	37339288		2203	4300	6503	SO:0001630	splice_region_variant	9025			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.976-1G>T	6.37:g.37339288G>T			A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Splice_Site	SNP	ENST00000373479.4	37	CCDS4834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.605414|2.605414	0.46423|0.46423	.|.	.|.	ENSG00000112130|ENSG00000112130	ENST00000373479;ENST00000469731|ENST00000498460	D;T|.	0.83755|.	-1.76;0.73|.	5.67|5.67	4.81|4.81	0.61882|0.61882	.|.	0.672301|0.672301	0.13502|0.13502	N|N	0.383180|0.383180	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.49752|.	0.621|.	T|T	0.57780|0.57780	-0.7752|-0.7752	9|6	.|.	.|.	.|.	.|.	15.5374|15.5374	0.76013|0.76013	0.0:0.1385:0.8615:0.0|0.0:0.1385:0.8615:0.0	.|.	326|.	O76064|.	RNF8_HUMAN|.	C|V	326|115	ENSP00000362578:G326C;ENSP00000418879:G326C|.	.|.	G|G	+|+	1|2	0|0	RNF8|RNF8	37447266|37447266	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.300000|0.300000	0.27592|0.27592	3.770000|3.770000	0.55310|0.55310	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	GGT|GGG		0.468	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2		Missense_Mutation	8	66	8	66
LMOD2	442721	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	123302314	123302314	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:123302314C>A	ENST00000458573.2	+	2	831	c.674C>A	c.(673-675)aCa>aAa	p.T225K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	225						cytoskeleton (GO:0005856)											GAGAACATCACAACACAGACC	0.488																																																0													103.0	100.0	101.0					7																	123302314		2091	4225	6316	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.674C>A	7.37:g.123302314C>A	ENSP00000411932:p.Thr225Lys		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537742	0.85917	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.90444	-2.67	5.04	5.04	0.67666	.	.	.	.	.	D	0.90618	0.7058	L	0.53561	1.675	0.80722	D	1	D	0.56035	0.974	P	0.47981	0.563	D	0.89853	0.4011	9	0.34782	T	0.22	-5.992	18.4371	0.90650	0.0:1.0:0.0:0.0	.	225	Q6P5Q4	LMOD2_HUMAN	K	225;185;196	ENSP00000411932:T225K	ENSP00000405123:T196K	T	+	2	0	LMOD2	123089550	1.000000	0.71417	0.919000	0.36401	0.968000	0.65278	7.630000	0.83225	2.342000	0.79632	0.586000	0.80456	ACA		0.488	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			11	85	11	85
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144940844	144940844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940844G>A	ENST00000525985.1	-	2	6649	c.6578C>T	c.(6577-6579)aCg>aTg	p.T2193M				P58107	EPIPL_HUMAN	epiplakin 1	2193						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATTTCCTCCGTGATTATGGC	0.552																																																0													229.0	239.0	236.0					8																	144940844		2053	4197	6250	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6578C>T	8.37:g.144940844G>A	ENSP00000436337:p.Thr2193Met		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	17.84	3.488852	0.64074	.	.	ENSG00000227184	ENST00000525985	T	0.69040	-0.37	4.66	-9.32	0.00643	.	.	.	.	.	T	0.63931	0.2553	L	0.48642	1.525	0.09310	N	1	D	0.64830	0.994	P	0.53006	0.715	T	0.67632	-0.5621	9	0.38643	T	0.18	.	14.403	0.67063	0.0:0.6255:0.1216:0.2529	.	2193	E9PPU0	.	M	2193	ENSP00000436337:T2193M	ENSP00000436337:T2193M	T	-	2	0	EPPK1	145012832	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-1.696000	0.01421	-0.291000	0.09656	ACG		0.552	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		103	337	103	337
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	113170752	113170752	+	Silent	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:113170752A>G	ENST00000401783.2	-	38	7464	c.7128T>C	c.(7126-7128)tgT>tgC	p.C2376C	SVEP1_ENST00000297826.5_Silent_p.C302C|SVEP1_ENST00000374469.1_Silent_p.C2353C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2376	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACAATCTTACAAACAGGGA	0.453																																																0													61.0	60.0	60.0					9																	113170752		1906	4126	6032	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7128T>C	9.37:g.113170752A>G			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	40	6	40
SYTL4	94121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	99956505	99956505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:99956505C>T	ENST00000372989.1	-	5	606	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SYTL4_ENST00000372981.1_Missense_Mutation_p.R92H|SYTL4_ENST00000276141.6_Missense_Mutation_p.R92H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R92H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R92H|SYTL4_ENST00000455616.1_Missense_Mutation_p.R92H	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	92	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCCTGTATGCGGCAGTCCCG	0.582																																																0													110.0	92.0	98.0					X																	99956505		2203	4300	6503	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.275G>A	X.37:g.99956505C>T	ENSP00000362080:p.Arg92His		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274920	0.59649	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.25	5.25	0.73442	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.109289	0.64402	D	0.000013	D	0.89501	0.6733	M	0.87269	2.87	0.35985	D	0.836274	D;D	0.89917	1.0;0.998	D;P	0.73708	0.981;0.79	D	0.93093	0.6501	9	.	.	.	-1.742	17.825	0.88662	0.0:1.0:0.0:0.0	.	92;92	Q96C24-2;Q96C24	.;SYTL4_HUMAN	H	92	ENSP00000362080:R92H;ENSP00000390252:R92H;ENSP00000403556:R92H;ENSP00000276141:R92H;ENSP00000263033:R92H;ENSP00000362072:R92H	.	R	-	2	0	SYTL4	99843161	0.995000	0.38212	0.825000	0.32803	0.251000	0.25915	3.216000	0.51176	2.329000	0.79093	0.600000	0.82982	CGC		0.582	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		70	111	70	111
IL1RAPL2	26280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	104984622	104984622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:104984622A>G	ENST00000372582.1	+	8	1742	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y329C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	329	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCGAATTATACCTGCCAT	0.393																																																0													70.0	64.0	66.0					X																	104984622		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.986A>G	X.37:g.104984622A>G	ENSP00000361663:p.Tyr329Cys		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063833	0.76187	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	D;D	0.93366	-3.21;-3.21	5.88	5.88	0.94601	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.96175	0.8753	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96573	0.9424	10	0.87932	D	0	.	14.2995	0.66336	1.0:0.0:0.0:0.0	.	329	Q9NP60	IRPL2_HUMAN	C	329	ENSP00000361663:Y329C;ENSP00000344976:Y329C	ENSP00000344976:Y329C	Y	+	2	0	IL1RAPL2	104871278	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.324000	0.90005	1.976000	0.57569	0.486000	0.48141	TAT		0.393	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		34	40	34	40
BRS3	680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	135572458	135572458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:135572458G>T	ENST00000370648.3	+	2	829	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	201					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TATGACATTTGAATCATGTAC	0.373																																																0													87.0	80.0	83.0					X																	135572458		2203	4299	6502	SO:0001587	stop_gained	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.601G>T	X.37:g.135572458G>T	ENSP00000359682:p.Glu201*			Nonsense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180651	0.78677	.	.	ENSG00000102239	ENST00000370648	.	.	.	5.15	4.29	0.51040	.	0.147989	0.46758	D	0.000274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-4.8309	9.5709	0.39427	0.1655:0.0:0.8345:0.0	.	.	.	.	X	201	.	ENSP00000359682:E201X	E	+	1	0	BRS3	135400124	1.000000	0.71417	0.026000	0.17262	0.090000	0.18270	4.365000	0.59486	1.057000	0.40506	0.600000	0.82982	GAA		0.373	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		6	53	6	53
RENBP	5973	hgsc.bcm.edu;broad.mit.edu	37	X	153208402	153208402	+	Missense_Mutation	SNP	G	G	T	rs149476338		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:153208402G>T	ENST00000393700.3	-	6	672	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	RENBP_ENST00000369997.3_Missense_Mutation_p.L184M|RENBP_ENST00000412763.1_Missense_Mutation_p.L198M|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	198	Leucine-zipper.				N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTCCACCAGGTTCAGTAGC	0.701																																																0													54.0	50.0	51.0					X																	153208402		2203	4299	6502	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.592C>A	X.37:g.153208402G>T	ENSP00000377303:p.Leu198Met		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	9.618	1.132998	0.21041	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29655	1.56;1.56;1.56	3.92	1.92	0.25849	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.251394	0.29692	U	0.011452	T	0.33818	0.0876	M	0.69358	2.11	0.42015	D	0.990957	P;P	0.48350	0.909;0.766	P;P	0.47645	0.553;0.452	T	0.11324	-1.0592	10	0.54805	T	0.06	-9.7038	6.3037	0.21127	0.3817:0.0:0.6183:0.0	.	198;198	P51606-2;P51606	.;RENBP_HUMAN	M	198;198;184	ENSP00000377303:L198M;ENSP00000387811:L198M;ENSP00000359014:L184M	ENSP00000359014:L184M	L	-	1	2	RENBP	152861596	1.000000	0.71417	0.024000	0.17045	0.146000	0.21551	4.331000	0.59273	0.681000	0.31386	0.183000	0.17082	CTG		0.701	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		14	177	14	177
CCDC8	83987	broad.mit.edu;ucsc.edu	37	19	46915402	46915402	+	Silent	SNP	G	G	A			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46915402G>A	ENST00000307522.3	-	1	1439	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701																																																0													13.0	16.0	15.0					19																	46915402		2196	4279	6475	SO:0001819	synonymous_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.666C>T	19.37:g.46915402G>A			Q8TB26	Silent	SNP	ENST00000307522.3	37	CCDS12685.1																																																																																				0.701	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	34	8	34
ACCS	84680	broad.mit.edu;ucsc.edu	37	11	44089249	44089249	+	Silent	SNP	G	G	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:44089249G>T	ENST00000263776.8	+	2	506	c.72G>T	c.(70-72)ctG>ctT	p.L24L	ACCS_ENST00000432284.2_Silent_p.L24L|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	24					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACCTGGGCAGTAGCC	0.567																																					Esophageal Squamous(158;148 1889 8077 23160 41213)											0													70.0	73.0	72.0					11																	44089249		2203	4300	6503	SO:0001819	synonymous_variant	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.72G>T	11.37:g.44089249G>T			B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	CCDS7907.1																																																																																				0.567	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		19	71	19	71
TENM3	55714	broad.mit.edu;ucsc.edu	37	4	183651451	183651451	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:183651451C>T	ENST00000511685.1	+	15	2807	c.2684C>T	c.(2683-2685)aCt>aTt	p.T895I	TENM3_ENST00000406950.2_Missense_Mutation_p.T895I|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	895					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATGGATATACTATTACCCGC	0.418																																																0													123.0	114.0	116.0					4																	183651451		1859	4095	5954	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2684C>T	4.37:g.183651451C>T	ENSP00000424226:p.Thr895Ile		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248919	0.80024	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.15834	2.39;2.39	4.92	4.92	0.64577	Carboxypeptidase-like, regulatory domain (1);	.	.	.	.	T	0.49915	0.1585	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.60265	-0.7297	9	0.87932	D	0	.	18.2968	0.90148	0.0:1.0:0.0:0.0	.	895	Q9P273	TEN3_HUMAN	I	895	ENSP00000424226:T895I;ENSP00000385276:T895I	ENSP00000385276:T895I	T	+	2	0	ODZ3	183888445	1.000000	0.71417	0.969000	0.41365	0.969000	0.65631	7.458000	0.80787	2.540000	0.85666	0.655000	0.94253	ACT		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			23	51	23	51
DMD	1756	broad.mit.edu;ucsc.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:32867885C>T	ENST00000357033.4	-	3	352	c.146G>A	c.(145-147)cGc>cAc	p.R49H	snoU13_ENST00000459244.1_RNA|DMD_ENST00000378677.2_Missense_Mutation_p.R45H|DMD_ENST00000288447.4_Missense_Mutation_p.R41H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	49	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.		Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393																																																0													89.0	85.0	86.0					X																	32867885		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.146G>A	X.37:g.32867885C>T	ENSP00000354923:p.Arg49His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580687	0.86748	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.63	4.76	0.60689	Calponin homology domain (5);	0.490245	0.13997	U	0.348381	D	0.95856	0.8651	M	0.62266	1.93	0.80722	D	1	D;D;P;D	0.71674	0.998;0.994;0.884;0.995	P;P;B;P	0.61874	0.895;0.78;0.439;0.86	D	0.94777	0.7950	10	0.54805	T	0.06	.	11.8557	0.52435	0.0:0.9123:0.0:0.0877	.	41;41;49;45	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	H	41;45;49;49;41;12	ENSP00000367948:R45H;ENSP00000354923:R49H;ENSP00000288447:R41H;ENSP00000395904:R12H	ENSP00000288447:R41H	R	-	2	0	DMD	32777806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.592000	0.46171	2.346000	0.79739	0.600000	0.82982	CGC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	70	9	70
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2912_2915delAAGA	X.37:g.76937837_76937840delTCTT	ENSP00000362441:p.Lys971fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.324	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		90	135	90	135
