#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
RTKN2	219790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	ENST00000373789.3	-	12	1762	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	556					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428																																																0													194.0	174.0	180.0					10																	63957831		2203	4300	6503	SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1666A>G	10.37:g.63957831T>C	ENSP00000362894:p.Met556Val		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	0.052	-1.247938	0.01469	.	.	ENSG00000182010	ENST00000373789	T	0.27104	1.69	5.61	-2.14	0.07123	.	0.560778	0.21114	N	0.079935	T	0.08492	0.0211	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.10111	T	0.7	0.0585	5.6543	0.17635	0.1177:0.3163:0.0:0.566	.	556	Q8IZC4	RTKN2_HUMAN	V	556	ENSP00000362894:M556V	ENSP00000362894:M556V	M	-	1	0	RTKN2	63627837	0.000000	0.05858	0.279000	0.24732	0.986000	0.74619	-0.601000	0.05687	-0.461000	0.06993	0.533000	0.62120	ATG		0.428	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		18	87	18	87
PLEKHA1	59338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T	rs201098598	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	ENST00000368990.3	+	3	294	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		16559	0.0		0.0	False		,,,				2504	0.0															0													125.0	122.0	123.0					10																	124157455		2203	4300	6503	SO:0001583	missense	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.163C>T	10.37:g.124157455C>T	ENSP00000357986:p.Arg55Cys		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193632	0.38707	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.41	4.51	0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.387251	0.32769	N	0.005671	T	0.44456	0.1294	N	0.00926	-1.1	0.39935	D	0.97433	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.41928	-0.9481	10	0.38643	T	0.18	-8.722	9.7643	0.40552	0.0:0.8431:0.0:0.1569	.	55;55	B3KQ55;Q9HB21	.;PKHA1_HUMAN	C	55	ENSP00000357986:R55C;ENSP00000357985:R55C;ENSP00000357984:R55C;ENSP00000438608:R55C;ENSP00000376547:R55C;ENSP00000394416:R55C	ENSP00000357984:R55C	R	+	1	0	PLEKHA1	124147445	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	1.475000	0.35409	1.424000	0.47217	0.655000	0.94253	CGT		0.299	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		20	92	20	92
EBF3	253738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	ENST00000355311.5	-	2	266	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	EBF3_ENST00000368648.3_Missense_Mutation_p.S65Y			Q9H4W6	COE3_HUMAN	early B-cell factor 3	65	Interaction with DNA. {ECO:0000250}.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612																																																0													54.0	59.0	57.0					10																	131761728		2203	4300	6503	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.194C>A	10.37:g.131761728G>T	ENSP00000347463:p.Ser65Tyr		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	19.81	3.896857	0.72639	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.64618	-0.11;-0.06	3.27	3.27	0.37495	.	0.000000	0.85682	U	0.000000	T	0.80465	0.4628	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.84821	0.0796	10	0.87932	D	0	-8.5638	14.1154	0.65149	0.0:0.0:1.0:0.0	.	65;65	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	Y	65	ENSP00000347463:S65Y;ENSP00000357637:S65Y	ENSP00000347463:S65Y	S	-	2	0	EBF3	131651718	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.034000	0.76511	1.343000	0.45638	0.205000	0.17691	TCC		0.612	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		10	67	10	67
OR52M1	119772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	ENST00000360213.1	+	1	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512																																																0													210.0	197.0	201.0					11																	4567000		2201	4298	6499	SO:0001583	missense	119772			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.580G>A	11.37:g.4567000G>A	ENSP00000353343:p.Asp194Asn			Missense_Mutation	SNP	ENST00000360213.1	37	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994625	0.35226	.	.	ENSG00000197790	ENST00000360213	T	0.00231	8.49	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000125	T	0.00384	0.0012	L	0.43757	1.38	0.35927	D	0.832206	D	0.89917	1.0	D	0.97110	1.0	D	0.92258	0.5814	10	0.12766	T	0.61	.	17.4094	0.87481	0.0:0.0:1.0:0.0	.	194	Q8NGK5	O52M1_HUMAN	N	194	ENSP00000353343:D194N	ENSP00000353343:D194N	D	+	1	0	OR52M1	4523576	0.841000	0.29509	0.987000	0.45799	0.018000	0.09664	1.525000	0.35953	2.768000	0.95171	0.650000	0.86243	GAC		0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		37	206	37	206
OR51E1	143503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	ENST00000396952.5	+	2	1380	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V243I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498																																																1	Substitution - Missense(1)	large_intestine(1)						G	ILE/VAL	0,4402		0,0,2201	243.0	229.0	234.0		730	4.0	1.0	11	dbSNP_134	234	3,8593	3.0+/-9.4	0,3,4295	yes	missense	OR51E1	NM_152430.3	29	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	244/319	4674486	3,12995	2201	4298	6499	SO:0001583	missense	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.730G>A	11.37:g.4674486G>A	ENSP00000380155:p.Val244Ile		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139187	0.21205	0.0	3.49E-4	ENSG00000180785	ENST00000396952	T	0.37584	1.19	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.255092	0.27563	N	0.018809	T	0.18551	0.0445	N	0.20881	0.62	0.80722	D	1	P	0.43826	0.818	B	0.37239	0.244	T	0.05007	-1.0912	10	0.07644	T	0.81	.	9.4332	0.38624	0.1719:0.0:0.8281:0.0	.	243	Q8TCB6	O51E1_HUMAN	I	244	ENSP00000380155:V244I	ENSP00000380155:V244I	V	+	1	0	OR51E1	4631062	0.000000	0.05858	1.000000	0.80357	0.830000	0.47004	0.514000	0.22786	1.435000	0.47434	0.655000	0.94253	GTC		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		14	91	14	91
ROM1	6094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	ENST00000278833.3	+	2	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	EML3_ENST00000278845.4_5'Flank|EML3_ENST00000529309.1_5'Flank|ROM1_ENST00000534093.1_Silent_p.P41P|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	251					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602																																																0													80.0	78.0	79.0					11																	62381890		2202	4299	6501	SO:0001587	stop_gained	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.751C>T	11.37:g.62381890C>T	ENSP00000278833:p.Gln251*		B2R978	Nonsense_Mutation	SNP	ENST00000278833.3	37	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	C	39	7.865685	0.98534	.	.	ENSG00000149489	ENST00000278833	.	.	.	5.38	4.44	0.53790	.	0.537068	0.19633	N	0.109629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-10.2657	13.5761	0.61875	0.0:0.8425:0.1575:0.0	.	.	.	.	X	251	.	ENSP00000278833:Q251X	Q	+	1	0	ROM1	62138466	0.800000	0.28916	1.000000	0.80357	0.990000	0.78478	2.187000	0.42602	1.210000	0.43336	0.462000	0.41574	CAA		0.602	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		22	113	22	113
TMEM151A	256472	hgsc.bcm.edu;broad.mit.edu	37	11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	ENST00000327259.4	+	2	1529	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	462						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657																																																0													8.0	9.0	9.0					11																	66063102		1679	3297	4976	SO:0001583	missense	256472			BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1385G>A	11.37:g.66063102G>A	ENSP00000326244:p.Gly462Glu		Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110695	0.37242	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	3.23	0.37069	.	0.361751	0.23345	N	0.049195	T	0.26774	0.0655	N	0.22421	0.69	0.28768	N	0.900546	B	0.06786	0.001	B	0.01281	0.0	T	0.16748	-1.0392	9	0.56958	D	0.05	-1.7322	7.648	0.28331	0.2002:0.0:0.7998:0.0	.	462	Q8N4L1	T151A_HUMAN	E	462	.	ENSP00000326244:G462E	G	+	2	0	TMEM151A	65819678	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.422000	0.52749	0.966000	0.38159	0.462000	0.41574	GGG		0.657	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		5	34	5	34
TAS2R8	50836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	10959421	10959421	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	ENST00000240615.2	-	1	471	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	53					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328																																																0													127.0	122.0	124.0					12																	10959421		2203	4300	6503	SO:0001819	synonymous_variant	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.159C>T	12.37:g.10959421G>A			Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	CCDS8632.1																																																																																				0.328	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			26	178	26	178
GRIN2B	2904	hgsc.bcm.edu;broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	T	rs201568782		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	ENST00000609686.1	-	13	3758	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1183					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTTGTCGCCCGTCCCGTGCT	0.617																																																0								C		3,4403	6.2+/-15.9	0,3,2200	99.0	93.0	95.0		3549	-9.2	0.0	12		95	0,8600		0,0,4300	no	coding-synonymous	GRIN2B	NM_000834.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1183/1485	13716623	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3549G>A	12.37:g.13716623C>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	174	9	174
CLN5	1203	hgsc.bcm.edu;broad.mit.edu	37	13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	ENST00000377453.3	+	3	1834	c.542C>T	c.(541-543)aCa>aTa	p.T181I	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	132					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423																																																0													201.0	170.0	181.0					13																	77570092		2203	4300	6503	SO:0001583	missense	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.542C>T	13.37:g.77570092C>T	ENSP00000366673:p.Thr181Ile		B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228067	0.95173	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.90197	-2.63	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95657	0.8712	10	0.87932	D	0	-17.5531	19.4882	0.95039	0.0:1.0:0.0:0.0	.	132	O75503	CLN5_HUMAN	I	181;132;47	ENSP00000366673:T181I	ENSP00000366673:T181I	T	+	2	0	CLN5	76468093	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.618000	0.88619	0.563000	0.77884	ACA		0.423	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		13	204	13	204
C15orf54	400360	hgsc.bcm.edu;broad.mit.edu	37	15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	ENST00000318578.3	+	2	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468																																																0													177.0	179.0	178.0					15																	39544388		2200	4297	6497	SO:0001583	missense	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.52G>A	15.37:g.39544388G>A	ENSP00000323686:p.Ala18Thr		B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868787	0.51588	.	.	ENSG00000175746	ENST00000318578	T	0.38560	1.13	5.07	0.0455	0.14230	.	.	.	.	.	T	0.20007	0.0481	N	0.08118	0	0.19575	N	0.999964	B	0.06786	0.001	B	0.04013	0.001	T	0.18808	-1.0325	9	0.87932	D	0	.	4.0047	0.09595	0.4159:0.3673:0.2168:0.0	.	18	Q8N8G6	CO054_HUMAN	T	18	ENSP00000323686:A18T	ENSP00000323686:A18T	A	+	1	0	C15orf54	37331680	0.050000	0.20438	0.695000	0.30226	0.992000	0.81027	-0.108000	0.10857	-0.147000	0.11254	0.655000	0.94253	GCT		0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		19	344	19	344
IL16	3603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	ENST00000302987.4	+	13	2773	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_ENST00000394652.2_Missense_Mutation_p.P224A|IL16_ENST00000394660.2_Missense_Mutation_p.P925A			Q14005	IL16_HUMAN	interleukin 16	925					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642																																																0													37.0	44.0	42.0					15																	81592440		2203	4300	6503	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2773C>G	15.37:g.81592440C>G	ENSP00000302935:p.Pro925Ala		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183942	0.21870	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.10288	2.89;2.89;3.48	4.85	0.585	0.17428	.	1.058890	0.07434	N	0.896252	T	0.07773	0.0195	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.30406	0.141;0.179;0.005;0.278;0.07;0.264	B;B;B;B;B;B	0.27887	0.072;0.077;0.002;0.084;0.016;0.075	T	0.39143	-0.9628	10	0.41790	T	0.15	.	3.373	0.07228	0.1278:0.4803:0.2483:0.1435	.	757;418;462;315;925;925	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	A	925;757;925;462;315;224;224	ENSP00000378155:P925A;ENSP00000302935:P925A;ENSP00000378147:P224A	ENSP00000302935:P925A	P	+	1	0	IL16	79379495	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.327000	0.19663	-0.149000	0.11215	-0.140000	0.14226	CCA		0.642	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		14	87	14	87
FAM169B	283777	hgsc.bcm.edu;broad.mit.edu	37	15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	rs141122936		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	ENST00000558256.1	-	4	394	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473																																																0								G	CYS/ARG	0,3842		0,0,1921	108.0	107.0	107.0		145	0.3	0.0	15	dbSNP_134	107	1,8295		0,1,4147	no	missense	FAM169B	NM_182562.2	180	0,1,6068	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	49/193	99023868	1,12137	1921	4148	6069	SO:0001583	missense	283777				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.145C>T	15.37:g.99023868G>A	ENSP00000453554:p.Arg49Cys		B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267010	0.40095	0.0	1.21E-4	ENSG00000185087	ENST00000332908	T	0.43294	0.95	5.06	0.29	0.15728	.	0.481170	0.22378	N	0.060857	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.40782	0.34	T	0.20806	-1.0264	10	0.66056	D	0.02	-0.4158	5.4331	0.16464	0.0:0.3469:0.3559:0.2971	.	49	Q8N8A8	F169B_HUMAN	C	49	ENSP00000332615:R49C	ENSP00000332615:R49C	R	-	1	0	FAM169B	96841391	0.003000	0.15002	0.003000	0.11579	0.971000	0.66376	0.658000	0.24979	-0.182000	0.10602	0.655000	0.94253	CGT		0.473	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		13	163	13	163
KRT27	342574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T	rs377315465		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	ENST00000301656.3	-	6	1148	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547																																																0													151.0	151.0	151.0					17																	38933849		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1108G>A	17.37:g.38933849C>T	ENSP00000301656:p.Glu370Lys			Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938154	0.92526	.	.	ENSG00000171446	ENST00000301656	D	0.93712	-3.27	5.56	5.56	0.83823	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95893	0.8663	M	0.90309	3.105	0.49130	D	0.999754	D	0.60160	0.987	P	0.53593	0.73	D	0.96073	0.9047	10	0.87932	D	0	.	12.245	0.54566	0.0:0.9222:0.0:0.0778	.	370	Q7Z3Y8	K1C27_HUMAN	K	370	ENSP00000301656:E370K	ENSP00000301656:E370K	E	-	1	0	KRT27	36187375	1.000000	0.71417	0.994000	0.49952	0.757000	0.42996	4.626000	0.61269	2.768000	0.95171	0.650000	0.86243	GAG		0.547	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		34	255	34	255
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu	37	19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	ENST00000263388.2	-	33	6884	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2270					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667																																																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	39.0	43.0	41.0		6809	3.4	0.8	19	dbSNP_134	41	0,8600		0,0,4300	yes	missense	NOTCH3	NM_000435.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2270/2322	15271630	1,13005	2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6809C>T	19.37:g.15271630G>A	ENSP00000263388:p.Thr2270Met		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630997	0.67015	2.27E-4	0.0	ENSG00000074181	ENST00000263388	T	0.77620	-1.11	3.44	3.44	0.39384	Domain of unknown function DUF3454, notch (1);	.	.	.	.	T	0.80586	0.4651	L	0.39147	1.195	0.45025	D	0.998042	D	0.89917	1.0	P	0.61874	0.895	T	0.79904	-0.1606	9	0.38643	T	0.18	.	14.1924	0.65646	0.0:0.0:1.0:0.0	.	2270	Q9UM47	NOTC3_HUMAN	M	2270	ENSP00000263388:T2270M	ENSP00000263388:T2270M	T	-	2	0	NOTCH3	15132630	0.999000	0.42202	0.758000	0.31321	0.964000	0.63967	2.932000	0.48940	1.941000	0.56285	0.591000	0.81541	ACG		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	126	7	126
CDC20	991	hgsc.bcm.edu;broad.mit.edu	37	1	43826262	43826262	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	ENST00000372462.1	+	6	1049	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Silent_p.S282S			Q12834	CDC20_HUMAN	cell division cycle 20	282					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0													157.0	142.0	147.0					1																	43826262		2203	4300	6503	SO:0001819	synonymous_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.846C>A	1.37:g.43826262C>A			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	CCDS484.1																																																																																				0.512	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		6	116	6	116
CFAP45	25790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A	rs371893609		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	ENST00000368099.4	-	11	1499	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCDC19_ENST00000476696.1_5'UTR|RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000426543.2_Missense_Mutation_p.R394W	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612																																																0								G	TRP/ARG	0,4406		0,0,2203	67.0	64.0	65.0		1435	5.3	1.0	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC19	NM_012337.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	479/552	159842876	1,13005	2203	4300	6503	SO:0001583	missense	25790																														ENST00000368099.4:c.1435C>T	1.37:g.159842876G>A	ENSP00000357079:p.Arg479Trp			Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079842	0.76528	0.0	1.16E-4	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10573	2.86;2.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.82323	2.585	0.53005	D	0.999965	D	0.89917	1.0	D	0.74023	0.982	T	0.00920	-1.1514	9	.	.	.	-17.0171	11.7854	0.52039	0.0:0.0:0.8244:0.1756	.	479	Q9UL16	CCD19_HUMAN	W	479;394	ENSP00000357079:R479W;ENSP00000403044:R394W	.	R	-	1	2	CCDC19	158109500	0.676000	0.27567	1.000000	0.80357	0.988000	0.76386	0.816000	0.27267	2.609000	0.88269	0.655000	0.94253	CGG		0.612	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			21	84	21	84
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	57766794	57766794	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	ENST00000371030.2	+	1	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	240							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687																																																0													29.0	35.0	33.0					20																	57766794		1898	4114	6012	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.720C>T	20.37:g.57766794C>T			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		14	49	14	49
TTN	7273	hgsc.bcm.edu;broad.mit.edu	37	2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T	rs375190050		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	ENST00000591111.1	-	288	87360	c.87136G>A	c.(87136-87138)Ggc>Agc	p.G29046S	TTN_ENST00000589042.1_Missense_Mutation_p.G30687S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29046	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATTGCCGTTTATTAGT	0.408																																																0								C	SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,3778		0,0,1889	123.0	117.0	119.0		64864,84355,65239,65440	5.5	1.0	2		119	1,8217		0,1,4108	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,1,5997	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	21622/26927,28119/33424,21747/27052,21814/27119	179414390	1,11995	1889	4109	5998	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.87136G>A	2.37:g.179414390C>T	ENSP00000465570:p.Gly29046Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.652806	0.88056	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.48	5.48	0.80851	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80576	0.4649	M	0.87547	2.89	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.971;0.971;0.971;0.988	D	0.83386	0.0015	9	0.87932	D	0	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	21622;21747;21814;29046	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28119;21622;21814;21747;21619	ENSP00000343764:G28119S;ENSP00000434586:G21622S;ENSP00000340554:G21814S;ENSP00000352154:G21747S	ENSP00000340554:G21814S	G	-	1	0	TTN	179122636	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.984000	0.70548	2.724000	0.93272	0.563000	0.77884	GGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	93	5	93
ZSWIM2	151112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	rs200253183	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	107.0	112.0		824	5.8	1.0	2		112	0,8600		0,0,4300	no	missense	ZSWIM2	NM_182521.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/634	187698677	1,13005	2203	4300	6503	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.824G>A	2.37:g.187698677C>T	ENSP00000295131:p.Arg275His		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.35	3.366207	0.61513	2.27E-4	0.0	ENSG00000163012	ENST00000295131	D	0.87650	-2.28	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000044	D	0.91287	0.7253	L	0.47190	1.495	0.47374	D	0.999403	D	0.89917	1.0	D	0.74023	0.982	D	0.91766	0.5424	10	0.87932	D	0	-19.6714	16.9191	0.86159	0.0:1.0:0.0:0.0	.	275	Q8NEG5	ZSWM2_HUMAN	H	275	ENSP00000295131:R275H	ENSP00000295131:R275H	R	-	2	0	ZSWIM2	187406922	0.998000	0.40836	0.997000	0.53966	0.106000	0.19336	4.940000	0.63533	2.722000	0.93159	0.467000	0.42956	CGT		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		17	76	17	76
CXCR1	3577	hgsc.bcm.edu;broad.mit.edu	37	2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	ENST00000295683.2	-	2	757	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	213					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.V213M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	AACAGCGGCACGATGAAGCCA	0.522																																																1	Substitution - Missense(1)	lung(1)											123.0	109.0	114.0					2																	219029298		2203	4300	6503	SO:0001583	missense	3577			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.637G>A	2.37:g.219029298C>T	ENSP00000295683:p.Val213Met		B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	2.432	-0.330610	0.05314	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.40225	1.04	4.56	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.711100	0.13323	N	0.396529	T	0.29716	0.0742	L	0.43152	1.355	0.09310	N	1	B	0.18461	0.028	B	0.26094	0.066	T	0.23976	-1.0173	10	0.66056	D	0.02	.	3.8232	0.08843	0.2707:0.4468:0.1836:0.0989	.	213	P25024	CXCR1_HUMAN	M	213;157	ENSP00000295683:V213M	ENSP00000295683:V213M	V	-	1	0	CXCR1	218737543	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.173000	0.03108	-1.495000	0.01831	-2.372000	0.00235	GTG		0.522	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		10	123	10	123
C3orf14	57415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388																																																1	Substitution - Missense(1)	lung(1)											113.0	111.0	112.0					3																	62317051		2203	4300	6503	SO:0001583	missense	0			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.229C>T	3.37:g.62317051C>T	ENSP00000418086:p.Arg77Trp		B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399513	0.42512	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	3.33	0.38152	.	1.224480	0.05667	N	0.587906	T	0.24812	0.0602	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.43123	0.409	T	0.25222	-1.0138	9	0.62326	D	0.03	-8.7862	9.3099	0.37898	0.0:0.771:0.0:0.229	.	77	Q9HBI5	CC014_HUMAN	W	77	.	ENSP00000232519:R77W	R	+	1	2	C3orf14	62292091	0.005000	0.15991	0.000000	0.03702	0.874000	0.50279	0.593000	0.23999	0.445000	0.26639	0.644000	0.83932	CGG		0.388	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		22	141	22	141
WDR1	9948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	10077032	10077032	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	ENST00000499869.2	-	15	1984	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_Silent_p.A597A|WDR1_ENST00000502702.1_Silent_p.A457A|RP11-448G15.3_ENST00000561486.1_RNA|WDR1_ENST00000382451.2_Silent_p.A457A			O75083	WDR1_HUMAN	WD repeat domain 1	597					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567																																																0													56.0	62.0	60.0					4																	10077032		2112	4214	6326	SO:0001819	synonymous_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1791C>T	4.37:g.10077032G>A			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	CCDS54740.1																																																																																				0.567	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			9	67	9	67
GABRG1	2565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	46060562	46060562	+	Silent	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	ENST00000295452.4	-	6	870	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	235					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACTGATATAATCTCCAGTAT	0.348																																																0													87.0	84.0	85.0					4																	46060562		2203	4300	6503	SO:0001819	synonymous_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.703T>C	4.37:g.46060562A>G			Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1																																																																																				0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		10	85	10	85
POLR2B	5431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	ENST00000381227.1	+	11	1798	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V|POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	462					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378																																																0													70.0	75.0	73.0					4																	57873149		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1385C>T	4.37:g.57873149C>T	ENSP00000370625:p.Ala462Val		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983822	0.74474	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.86420	2.815	0.80722	D	1	P;P	0.35226	0.491;0.491	B;B	0.38327	0.271;0.271	T	0.82149	-0.0600	10	0.30854	T	0.27	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	387;462	C9J4M6;P30876	.;RPB2_HUMAN	V	462;387;455;462	ENSP00000370625:A462V;ENSP00000391096:A387V;ENSP00000391452:A455V;ENSP00000312735:A462V	ENSP00000312735:A462V	A	+	2	0	POLR2B	57567906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.658000	0.83755	2.600000	0.87896	0.655000	0.94253	GCC		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		10	79	10	79
CCDC158	339965	hgsc.bcm.edu;broad.mit.edu	37	4	77255306	77255306	+	Silent	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	ENST00000388914.3	-	18	2831	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393																																																0													166.0	159.0	161.0					4																	77255306		1921	4134	6055	SO:0001819	synonymous_variant	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2679T>A	4.37:g.77255306A>T			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		6	82	6	82
KLHL8	57563	hgsc.bcm.edu;broad.mit.edu	37	4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T	rs532263956		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	ENST00000273963.5	-	7	1629	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M|KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	430					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.0		0.0	False		,,,				2504	0.001															0													118.0	104.0	109.0					4																	88091688		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1288G>A	4.37:g.88091688C>T	ENSP00000273963:p.Val430Met		Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021948	0.93462	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.54	5.54	0.83059	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92572	0.6067	10	0.44086	T	0.13	.	19.4987	0.95085	0.0:1.0:0.0:0.0	.	247;354;430	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	M	430;354;247;79;430	ENSP00000273963:V430M;ENSP00000426451:V354M;ENSP00000408854:V247M;ENSP00000439514:V79M;ENSP00000424131:V430M	ENSP00000273963:V430M	V	-	1	0	KLHL8	88310712	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.437000	0.80417	2.609000	0.88269	0.460000	0.39030	GTG		0.428	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			11	145	11	145
TRIM60	166655	hgsc.bcm.edu;broad.mit.edu	37	4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	ENST00000512596.1	+	3	1509	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	431	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373																																																0													73.0	80.0	78.0					4																	165962517		2203	4300	6503	SO:0001583	missense	166655			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1293G>A	4.37:g.165962517G>A	ENSP00000421142:p.Met431Ile		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311939	0.23821	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.68479	-0.33;-0.33;-0.33	2.69	1.84	0.25277	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.282380	0.06503	U	0.736640	T	0.51805	0.1696	L	0.29908	0.895	0.09310	N	1	P	0.38395	0.629	B	0.35727	0.209	T	0.37686	-0.9695	10	0.24483	T	0.36	.	7.7188	0.28721	0.135:0.0:0.865:0.0	.	431	Q495X7	TRI60_HUMAN	I	431	ENSP00000421142:M431I;ENSP00000426496:M431I;ENSP00000343765:M431I	ENSP00000343765:M431I	M	+	3	0	TRIM60	166181967	0.000000	0.05858	0.029000	0.17559	0.517000	0.34286	-1.203000	0.03019	0.694000	0.31654	-0.136000	0.14681	ATG		0.373	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		6	98	6	98
C5orf42	65250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	ENST00000508244.1	-	33	7034	c.6941A>G	c.(6940-6942)cAt>cGt	p.H2314R	C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R|C5orf42_ENST00000274258.7_Missense_Mutation_p.H1194R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2314						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373																																																0													143.0	148.0	146.0					5																	37169185		2203	4300	6503	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6941A>G	5.37:g.37169185T>C	ENSP00000421690:p.His2314Arg		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411141	0.62399	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.38240	1.27;1.27;1.15;1.19	5.43	2.94	0.34122	.	0.526063	0.17208	N	0.182850	T	0.32255	0.0823	L	0.57536	1.79	0.18873	N	0.999985	B;B	0.32382	0.125;0.368	B;B	0.32677	0.111;0.15	T	0.28996	-1.0026	10	0.87932	D	0	.	6.3072	0.21145	0.1401:0.0755:0.0:0.7844	.	2314;1194	E9PH94;Q9H799	.;CE042_HUMAN	R	2314;2314;1194;1362;1194	ENSP00000421690:H2314R;ENSP00000389014:H2314R;ENSP00000274258:H1194R;ENSP00000424223:H1362R	ENSP00000274258:H1194R	H	-	2	0	C5orf42	37204942	0.984000	0.35163	0.004000	0.12327	0.868000	0.49771	2.146000	0.42216	0.316000	0.23135	0.533000	0.62120	CAT		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		14	119	14	119
C7	730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	ENST00000313164.9	+	4	622	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	88	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423																																																0													226.0	228.0	227.0					5																	40934551		1945	4163	6108	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.263G>A	5.37:g.40934551G>A	ENSP00000322061:p.Arg88His		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255772	0.80135	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	D	0.95412	-3.7	5.9	4.96	0.65561	.	0.052987	0.64402	D	0.000001	D	0.96762	0.8943	L	0.55743	1.74	0.48185	D	0.999606	D	0.89917	1.0	D	0.73380	0.98	D	0.96476	0.9352	10	0.52906	T	0.07	-31.6846	16.802	0.85617	0.0:0.0:0.8627:0.1373	.	88	P10643	CO7_HUMAN	H	88	ENSP00000322061:R88H	ENSP00000322061:R88H	R	+	2	0	C7	40970308	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	4.544000	0.60691	2.798000	0.96311	0.650000	0.86243	CGT		0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			34	230	34	230
GPR98	84059	hgsc.bcm.edu;broad.mit.edu	37	5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	ENST00000405460.2	+	74	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_ENST00000425867.2_Missense_Mutation_p.R761M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5100					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333																																																0													99.0	100.0	100.0					5																	90106376		1822	4078	5900	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15299G>T	5.37:g.90106376G>T	ENSP00000384582:p.Arg5100Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061136	0.19987	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35236	1.32;1.32	5.37	-10.7	0.00240	.	1.037740	0.07528	N	0.911659	T	0.15349	0.0370	N	0.22421	0.69	0.09310	N	1	P;B;P	0.39964	0.571;0.122;0.697	B;B;B	0.40534	0.178;0.029;0.332	T	0.12656	-1.0539	9	.	.	.	.	0.3201	0.00302	0.3257:0.2487:0.1992:0.2264	.	761;5100;761	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	5100;5100;761	ENSP00000384582:R5100M;ENSP00000392618:R761M	.	R	+	2	0	GPR98	90142132	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	0.079000	0.14782	-1.543000	0.01723	0.563000	0.77884	AGG		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		11	134	11	134
SLCO6A1	133482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T	rs539137924	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	ENST00000506729.1	-	13	2252	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	694						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													C|||	2	0.000399361	0.0	0.0	5008	,	,		12544	0.0		0.0	False		,,,				2504	0.002															0													151.0	150.0	150.0					5																	101709135		2203	4297	6500	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2081G>A	5.37:g.101709135C>T	ENSP00000421339:p.Arg694His		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237473	0.10023	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46451	0.89;0.89;0.95;0.87;0.87	3.34	-6.67	0.01783	Major facilitator superfamily domain, general substrate transporter (1);	6.024030	0.00166	N	0.000001	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	P;B;P	0.41978	0.767;0.089;0.656	B;B;B	0.33042	0.157;0.002;0.075	T	0.25882	-1.0119	10	0.42905	T	0.14	.	1.4185	0.02306	0.1664:0.1292:0.329:0.3755	.	632;441;694	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	694;694;632;441;441	ENSP00000421339:R694H;ENSP00000369135:R694H;ENSP00000373671:R632H;ENSP00000421990:R441H;ENSP00000369138:R441H	ENSP00000369135:R694H	R	-	2	0	SLCO6A1	101737034	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.446000	0.06837	-2.052000	0.00902	-2.972000	0.00081	CGT		0.323	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		15	144	15	144
EGR1	1958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	137803725	137803725	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	ENST00000239938.4	+	2	1859	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	529					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512																																																0													80.0	82.0	82.0					5																	137803725		2203	4300	6503	SO:0001819	synonymous_variant	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1587G>A	5.37:g.137803725G>A				Silent	SNP	ENST00000239938.4	37	CCDS4206.1																																																																																				0.512	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		23	152	23	152
PCDHB8	56128	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	ENST00000239444.2	+	1	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468																																																0													209.0	277.0	254.0					5																	140558380		2203	4300	6503	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.765C>G	5.37:g.140558380C>G	ENSP00000239444:p.Asp255Glu		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475493	0.43942	.	.	ENSG00000120322	ENST00000239444	T	0.51071	0.72	4.25	-1.3	0.09259	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47432	0.1445	L	0.58510	1.815	0.25901	N	0.983354	P	0.36712	0.566	B	0.42959	0.403	T	0.50816	-0.8783	9	0.87932	D	0	.	10.0684	0.42317	0.0:0.4792:0.0:0.5208	.	255	Q9UN66	PCDB8_HUMAN	E	255	ENSP00000239444:D255E	ENSP00000239444:D255E	D	+	3	2	PCDHB8	140538564	0.000000	0.05858	0.941000	0.38009	0.675000	0.39556	-0.776000	0.04674	-0.185000	0.10550	-0.237000	0.12165	GAC		0.468	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		33	162	33	162
PCDHGC4	56098	hgsc.bcm.edu;ucsc.edu	37	5	140865844	140865844	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140865844G>A	ENST00000306593.1	+	1	1104	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACTGTGGTGGCACTTA	0.547																																																0													105.0	92.0	96.0					5																	140865844		2203	4300	6503	SO:0001819	synonymous_variant	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1104G>A	5.37:g.140865844G>A			Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																				0.547	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	100	11	100
DIAPH1	1729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	ENST00000398557.4	-	21	2913	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000253811.6_Missense_Mutation_p.V926M|DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	925	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512																																																0													114.0	117.0	116.0					5																	140908744		2156	4263	6419	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2773G>A	5.37:g.140908744C>T	ENSP00000381565:p.Val925Met		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133817	0.77662	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.37	5.37	0.77165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000002	T	0.42765	0.1217	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.30592	-0.9973	10	0.87932	D	0	.	17.9034	0.88911	0.0:1.0:0.0:0.0	.	868;916;925	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	M	922;868;901;916;917;925;926;913	ENSP00000373706:V922M;ENSP00000429282:V868M;ENSP00000381570:V901M;ENSP00000373709:V916M;ENSP00000381572:V917M;ENSP00000381565:V925M;ENSP00000253811:V926M;ENSP00000428268:V913M	ENSP00000253811:V926M	V	-	1	0	DIAPH1	140888928	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	6.049000	0.71053	2.510000	0.84645	0.650000	0.86243	GTG		0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		20	181	20	181
SPINK5	11005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	ENST00000256084.7	+	19	1754	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H|SPINK5_ENST00000359874.3_Missense_Mutation_p.R571H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	571	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433																																																0													132.0	129.0	130.0					5																	147491350		1948	4139	6087	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1712G>A	5.37:g.147491350G>A	ENSP00000256084:p.Arg571His		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243760	0.39697	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.52	3.63	0.41609	Proteinase inhibitor I1, Kazal (1);	0.157943	0.30134	N	0.010336	T	0.10508	0.0257	L	0.55103	1.725	0.23293	N	0.997966	B;P;P;B	0.50443	0.015;0.935;0.893;0.356	B;P;B;B	0.44860	0.017;0.462;0.273;0.111	T	0.13361	-1.0512	10	0.42905	T	0.14	-15.2539	9.0879	0.36592	0.1001:0.0:0.8999:0.0	.	552;571;571;571	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	571;571;552;571	ENSP00000381472:R571H;ENSP00000352936:R571H;ENSP00000421519:R552H;ENSP00000256084:R571H	ENSP00000256084:R571H	R	+	2	0	SPINK5	147471543	0.161000	0.22892	0.812000	0.32479	0.918000	0.54935	2.743000	0.47442	1.472000	0.48140	0.650000	0.86243	CGT		0.433	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		27	102	27	102
FAM71B	153745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	ENST00000302938.4	-	2	1569	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	492						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512																																																0													226.0	217.0	220.0					5																	156589802		2203	4300	6503	SO:0001587	stop_gained	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1474C>T	5.37:g.156589802G>A	ENSP00000305596:p.Arg492*		Q1EDD9|Q8TC64|Q96LY8	Nonsense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840852	0.71488	.	.	ENSG00000170613	ENST00000302938	.	.	.	4.52	-3.46	0.04767	.	1.401120	0.05414	N	0.542942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8342	6.7596	0.23532	0.0:0.2424:0.1475:0.6101	.	.	.	.	X	492	.	ENSP00000305596:R492X	R	-	1	2	FAM71B	156522380	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.532000	0.06164	-0.645000	0.05458	-1.289000	0.01358	CGA		0.512	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		19	137	19	137
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	ENST00000368508.3	-	20	3301	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1035	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1035*(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	2	Substitution - Nonsense(2)	skin(2)											90.0	92.0	91.0					6																	117686238		2203	4300	6503	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3103C>T	6.37:g.117686238G>A	ENSP00000357494:p.Arg1035*		Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	43	10.025021	0.99320	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.37	3.43	0.39272	.	0.129901	0.34484	N	0.003937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5198	0.27622	0.0791:0.0:0.6471:0.2738	.	.	.	.	X	1035;1030	.	ENSP00000357493:R1030X	R	-	1	2	ROS1	117792931	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.645000	0.46621	2.494000	0.84150	0.655000	0.94253	CGA		0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			14	103	14	103
GARS	2617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	ENST00000389266.3	+	8	1219	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	326					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423																																																0													93.0	91.0	91.0					7																	30651808		1827	4085	5912	SO:0001583	missense	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.978T>G	7.37:g.30651808T>G	ENSP00000373918:p.Ile326Met		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767129	0.69878	.	.	ENSG00000106105	ENST00000389266	D	0.82803	-1.65	5.58	4.43	0.53597	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90691	0.4613	10	0.87932	D	0	-17.5282	6.4511	0.21903	0.0:0.1709:0.0:0.8291	.	326	P41250	SYG_HUMAN	M	326	ENSP00000373918:I326M	ENSP00000373918:I326M	I	+	3	3	GARS	30618333	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.134000	0.15932	2.261000	0.74972	0.533000	0.62120	ATT		0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		10	97	10	97
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	ENST00000354212.4	-	10	1946	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T|MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	565					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507																																																0													115.0	96.0	103.0					7																	77885614		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1693C>A	7.37:g.77885614G>T	ENSP00000346151:p.Pro565Thr		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235504	0.39498	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.11495	2.86;2.87;2.77;3.77;3.79	5.94	5.94	0.96194	.	0.000000	0.36409	U	0.002613	T	0.18841	0.0452	L	0.55481	1.735	0.50813	D	0.999898	B;B;B;P;P;P	0.44627	0.372;0.021;0.255;0.651;0.839;0.495	B;B;B;B;P;B	0.46543	0.163;0.07;0.053;0.212;0.52;0.169	T	0.00579	-1.1661	10	0.25751	T	0.34	.	19.3473	0.94370	0.0:0.0:1.0:0.0	.	402;397;565;565;565;565	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	T	565;565;565;565;397;402	ENSP00000405766:P565T;ENSP00000346151:P565T;ENSP00000428389:P565T;ENSP00000441584:P397T;ENSP00000441603:P402T	ENSP00000346151:P565T	P	-	1	0	MAGI2	77723550	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.571000	0.53841	2.816000	0.96949	0.561000	0.74099	CCG		0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		8	131	8	131
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu	37	7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	ENST00000388781.3	-	14	1641	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P520S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	520	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493																																																0								G	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	74.0	72.0	72.0		1558	3.8	0.4	7	dbSNP_134	72	0,8600		0,0,4300	no	missense	LAMB4	NM_007356.2	74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	520/1762	107732214	1,13005	2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1558C>T	7.37:g.107732214G>A	ENSP00000373433:p.Pro520Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.278345	0.01410	2.27E-4	0.0	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	4.69	3.8	0.43715	EGF-like, laminin (3);	0.142736	0.32161	N	0.006494	T	0.37348	0.1000	L	0.28400	0.85	0.09310	N	1	B	0.25521	0.128	B	0.26693	0.072	T	0.18053	-1.0349	10	0.10111	T	0.7	.	5.4157	0.16372	0.1628:0.0:0.6687:0.1685	.	520	A4D0S4	LAMB4_HUMAN	S	520	ENSP00000205386:P520S;ENSP00000373433:P520S;ENSP00000373432:P520S;ENSP00000402353:P520S;ENSP00000402265:P520S	ENSP00000205386:P520S	P	-	1	0	LAMB4	107519450	0.000000	0.05858	0.353000	0.25747	0.336000	0.28762	0.367000	0.20382	1.159000	0.42565	0.655000	0.94253	CCC		0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		10	131	10	131
EPHX2	2053	hgsc.bcm.edu;broad.mit.edu	37	8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	ENST00000521400.1	+	12	1491	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V|EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	354	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.A354V(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TTCTGTAGGGCGGTGGCCAGT	0.463																																																1	Substitution - Missense(1)	lung(1)											114.0	106.0	109.0					8																	27382881		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1061C>T	8.37:g.27382881C>T	ENSP00000430269:p.Ala354Val		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641729	0.67244	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000518379	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.84	4.84	0.62591	Alpha/beta hydrolase fold-1 (2);	0.100008	0.64402	D	0.000002	D	0.86443	0.5934	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;P;D	0.64776	0.929;0.791;0.915	D	0.90959	0.4811	10	0.87932	D	0	-4.6784	15.7868	0.78310	0.0:1.0:0.0:0.0	.	322;354;354	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	V	354;171;288;301;322	ENSP00000430269:A354V;ENSP00000428875:A171V;ENSP00000430302:A288V;ENSP00000369843:A301V;ENSP00000427956:A322V	ENSP00000369843:A301V	A	+	2	0	EPHX2	27438798	0.999000	0.42202	1.000000	0.80357	0.481000	0.33189	5.321000	0.65846	2.373000	0.80994	0.563000	0.77884	GCG		0.463	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			9	151	9	151
KIF13B	23303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	ENST00000524189.1	-	27	3343	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1102					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343																																																0													170.0	149.0	156.0					8																	28981588		1844	4097	5941	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3305G>A	8.37:g.28981588C>T	ENSP00000427900:p.Arg1102His		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098861	0.94197	.	.	ENSG00000197892	ENST00000524189	D	0.85773	-2.03	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93650	0.6972	10	0.87932	D	0	.	19.1132	0.93326	0.0:1.0:0.0:0.0	.	1102	F8VPJ2	.	H	1102	ENSP00000427900:R1102H	ENSP00000427900:R1102H	R	-	2	0	KIF13B	29037507	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.325000	0.65869	2.736000	0.93811	0.655000	0.94253	CGT		0.343	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			8	57	8	57
WRN	7486	hgsc.bcm.edu;broad.mit.edu	37	8	30938764	30938764	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	ENST00000298139.5	+	9	1470	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	407					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTGGAACAGCAGTCTCAGG	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													85.0	87.0	87.0					8																	30938764		2203	4300	6503	SO:0001819	synonymous_variant	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1221G>A	8.37:g.30938764G>A			A1KYY9	Silent	SNP	ENST00000298139.5	37	CCDS6082.1																																																																																				0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	91	6	91
CYP7A1	1581	hgsc.bcm.edu;broad.mit.edu	37	8	59409693	59409693	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	ENST00000301645.3	-	3	515	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	126					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443									Neonatal Giant Cell Hepatitis																																							0													121.0	120.0	120.0					8																	59409693		2203	4300	6503	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.378C>T	8.37:g.59409693G>A			P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																				0.443	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		9	102	9	102
NLRP6	171389	broad.mit.edu;ucsc.edu	37	11	281299	281299	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	ENST00000312165.5	+	4	1565	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_ENST00000534750.1_Missense_Mutation_p.A522V	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	522					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677																																																0													34.0	29.0	31.0					11																	281299		2197	4294	6491	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1565C>T	11.37:g.281299C>T	ENSP00000309767:p.Ala522Val		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	2.033	-0.421822	0.04734	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74947	-0.89;-0.86	2.49	1.53	0.23141	.	1.000530	0.08067	N	0.999205	T	0.59348	0.2187	L	0.37561	1.115	0.09310	N	1	B;B	0.33857	0.274;0.429	B;B	0.27170	0.061;0.077	T	0.38286	-0.9668	10	0.15499	T	0.54	.	8.4783	0.33027	0.2341:0.7659:0.0:0.0	.	522;522	E9PJZ8;P59044	.;NALP6_HUMAN	V	522	ENSP00000433617:A522V;ENSP00000309767:A522V	ENSP00000309767:A522V	A	+	2	0	NLRP6	271299	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.089000	0.15002	0.574000	0.29417	-0.538000	0.04264	GCG		0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	21	5	21
OR5D18	219438	broad.mit.edu;ucsc.edu	37	11	55587486	55587486	+	Silent	SNP	T	T	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	ENST00000333976.4	+	1	401	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463																																																0													180.0	168.0	172.0					11																	55587486		2200	4296	6496	SO:0001819	synonymous_variant	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.381T>A	11.37:g.55587486T>A			Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	CCDS31510.1																																																																																				0.463	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		23	175	23	175
CFAP54	144535	broad.mit.edu;ucsc.edu	37	12	97082742	97082742	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:97082742G>A	ENST00000524981.4	+	43	6086	c.6063G>A	c.(6061-6063)ttG>ttA	p.L2021L				Q96N23	CL055_HUMAN		0																	GTTGCATTTTGTCTGCGTTAC	0.274																																																0													146.0	136.0	140.0					12																	97082742		2201	4299	6500	SO:0001819	synonymous_variant	0																														ENST00000524981.4:c.6063G>A	12.37:g.97082742G>A				Silent	SNP	ENST00000524981.4	37																																																																																					0.274	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			20	137	20	137
UBBP4	23666	broad.mit.edu;ucsc.edu	37	17	21731352	21731352	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21731352C>A	ENST00000584755.1	+	2	1051	c.654C>A	c.(652-654)ccC>ccA	p.P218P	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAGTCGACCCTGCACCTGGT	0.552																																																0																																										SO:0001819	synonymous_variant	23666			X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.654C>A	17.37:g.21731352C>A				Silent	SNP	ENST00000584755.1	37																																																																																					0.552	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			18	92	18	92
HMCN1	83872	broad.mit.edu;ucsc.edu	37	1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	ENST00000271588.4	+	16	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	827	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAATGGCGAAGATTAGAC	0.378																																																0													146.0	141.0	143.0					1																	185947027		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2480G>A	1.37:g.185947027G>A	ENSP00000271588:p.Arg827Gln		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598424	0.46318	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29917	1.55;1.55	5.89	4.04	0.47022	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114841	0.56097	N	0.000024	T	0.27559	0.0677	L	0.51422	1.61	0.45995	D	0.9988	B;B	0.23442	0.085;0.004	B;B	0.24974	0.057;0.007	T	0.04005	-1.0985	10	0.28530	T	0.3	.	10.6319	0.45541	0.2043:0.0:0.7957:0.0	.	211;827	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	Q	827	ENSP00000271588:R827Q;ENSP00000356462:R827Q	ENSP00000271588:R827Q	R	+	2	0	HMCN1	184213650	1.000000	0.71417	0.713000	0.30519	0.849000	0.48306	2.234000	0.43035	0.839000	0.34971	0.655000	0.94253	CGA		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	99	12	99
MAP3K3	4215	broad.mit.edu;ucsc.edu	37	17	61765935	61765935	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	ENST00000361733.3	+	9	1079	c.759C>T	c.(757-759)gaC>gaT	p.D253D	MAP3K3_ENST00000584573.1_Silent_p.D280D|MAP3K3_ENST00000577395.1_Silent_p.D249D|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361357.3_Silent_p.D284D|MAP3K3_ENST00000579585.1_Silent_p.D284D	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	253					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537																																																0													62.0	65.0	64.0					17																	61765935		2203	4300	6503	SO:0001819	synonymous_variant	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.759C>T	17.37:g.61765935C>T			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																				0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		13	88	13	88
PSORS1C1	170679	broad.mit.edu;ucsc.edu	37	6	31083952	31083952	+	Intron	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S480S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGGCACCAGCGGAGGGATCAG	0.622																																																0													31.0	32.0	31.0					6																	31083952		2132	4168	6300	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1284G>A	6.37:g.31083952G>A			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	CCDS34390.1																																																																																				0.622	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		8	54	8	54
ACTL8	81569	broad.mit.edu;ucsc.edu	37	1	18152414	18152414	+	Silent	SNP	C	C	T	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	ENST00000375406.1	+	3	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	167					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	5	0.000998403	0.0	0.0014	5008	,	,		14373	0.0		0.004	False		,,,				2504	0.0															0								C		2,4404	4.2+/-10.8	0,2,2201	29.0	29.0	29.0		501	-0.4	0.0	1	dbSNP_132	29	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ACTL8	NM_030812.2		0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846		167/367	18152414	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.501C>T	1.37:g.18152414C>T		723	Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	CCDS183.1																																																																																				0.607	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		7	45	7	45
PI4KB	5298	broad.mit.edu;hgsc.bcm.edu	37	1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	ENST00000368873.1	-	12	2519_2520	c.2351_2352insA	c.(2350-2352)cagfs	p.Q784fs	PI4KB_ENST00000368875.2_Frame_Shift_Ins_p.Q796fs|PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.Q796fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.Q452fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	784					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTGCAGCTGCTCCTCAGT	0.55																																					Colon(154;765 1838 9854 28443 37492)											0																																										SO:0001589	frameshift_variant	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2352dupA	1.37:g.151265428_151265428dupT	ENSP00000357867:p.Gln784fs		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Ins	INS	ENST00000368873.1	37																																																																																					0.550	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		19	75	19	75
