#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
EPHA8	2046	broad.mit.edu	37	1	22902985	22902985	+	Silent	SNP	C	C	T	rs142515766		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	ENST00000166244.3	+	3	507	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_ENST00000538803.1_Silent_p.I145I|EPHA8_ENST00000374644.4_Silent_p.I145I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18079	0.0		0.0	False		,,,				2504	0.0					uc001bfx.1																			0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(433-435)ATC>ATT		ephrin receptor EphA8 isoform 1 precursor		C	,	3,4403	6.2+/-15.9	0,3,2200	90.0	78.0	82.0		435,435	-0.6	1.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHA8	NM_001006943.1,NM_020526.3	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	145/496,145/1006	22902985	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902985C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.435C>T	1.37:g.22902985C>T						EPHA8_uc001bfw.2_Silent_p.I145I	p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	560	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	145			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.435C>T	CCDS225.1																																																																																				0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
FAM129A	116496	broad.mit.edu	37	1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	ENST00000367511.3	-	14	2645	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	818	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647																																						uc001gra.2																			0				ovary(3)|skin(1)	4						c.(2452-2454)GAG>AAG		niban protein isoform 2							53.0	53.0	53.0					1																	184764446		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764446C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2452G>A	1.37:g.184764446C>T	ENSP00000356481:p.Glu818Lys					FAM129A_uc001grb.1_Intron	p.E818K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2646	-			818			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2452G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964167	0.18583	.	.	ENSG00000135842	ENST00000367511	T	0.10573	2.86	5.25	-6.81	0.01704	.	2.875170	0.00644	N	0.000531	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	10	0.06494	T	0.89	1.3889	7.4335	0.27141	0.0:0.4598:0.2536:0.2866	.	818	Q9BZQ8	NIBAN_HUMAN	K	818	ENSP00000356481:E818K	ENSP00000356481:E818K	E	-	1	0	FAM129A	183031069	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.695000	0.05109	-1.194000	0.02684	0.462000	0.41574	GAG		0.647	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
CACNA1S	779	broad.mit.edu	37	1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	ENST00000362061.3	-	10	1611	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R462H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1384-1386)CGT>CAT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	66.0	70.0		1385	-0.9	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	462/1874	201052298	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052298C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1385G>A	1.37:g.201052298C>T	ENSP00000355192:p.Arg462His						p.R462H	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			10	1612	-			462			Extracellular (Potential).|II.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1385G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756982	0.00657	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.53	-0.908	0.10517	.	1.038830	0.07484	N	0.904426	D	0.89736	0.6801	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81165	-0.1057	10	0.17832	T	0.49	.	6.0446	0.19752	0.122:0.3748:0.0:0.5032	.	462	Q13698	CAC1S_HUMAN	H	462	ENSP00000355192:R462H;ENSP00000356307:R462H	ENSP00000355192:R462H	R	-	2	0	CACNA1S	199318921	0.000000	0.05858	0.073000	0.20177	0.029000	0.11900	0.171000	0.16685	-0.065000	0.13021	-1.246000	0.01523	CGT		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
KLHL12	59349	broad.mit.edu	37	1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	ENST00000367261.3	-	11	1778	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_ENST00000435533.3_Frame_Shift_Del_p.G558fs|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	520	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468																																						uc001gyo.1																			0					0						c.(1558-1560)GGGfs		kelch-like 12							140.0	134.0	136.0					1																	202862387		2203	4300	6503	SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202862387delC	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1560delG	1.37:g.202862387delC	ENSP00000356230:p.Gly520fs					KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	p.G520fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		11	1760	-			520			Interaction with DVL3.|Kelch 5.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Del	DEL	ENST00000367261.3	37	c.1560delG	CCDS1429.1																																																																																				0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
PPME1	51400	broad.mit.edu	37	11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	ENST00000328257.8	+	2	480	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_ENST00000398427.4_Missense_Mutation_p.M53L|PPME1_ENST00000542710.1_3'UTR			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	53					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373																																						uc001ouw.2																			0					0						c.(157-159)ATG>TTG		protein phosphatase methylesterase 1							151.0	143.0	146.0					11																	73914828		1810	4077	5887	SO:0001583	missense	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73914828A>T		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.157A>T	11.37:g.73914828A>T	ENSP00000329867:p.Met53Leu					PPME1_uc009yty.2_5'Flank	p.M53L	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			2	256	+	Breast(11;3.29e-05)		53					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	c.157A>T	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653791	0.29425	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T	0.01304	5.03	5.89	4.76	0.60689	.	0.117666	0.85682	D	0.000000	T	0.02156	0.0067	L	0.54323	1.7	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.52801	-0.8527	10	0.31617	T	0.26	-24.895	10.9582	0.47370	0.9258:0.0:0.0741:0.0	.	53	Q9Y570	PPME1_HUMAN	L	53	ENSP00000438632:M53L	ENSP00000329867:M53L	M	+	1	0	PPME1	73592476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.523000	0.73787	1.048000	0.40298	0.533000	0.62120	ATG		0.373	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147	
CLECL1	160365	broad.mit.edu	37	12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	ENST00000327839.3	-	1	258	c.224delT	c.(223-225)ttgfs	p.L75fs		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423																																						uc001qwj.2																			0					0						c.(223-225)TTGfs		type II transmembrane protein DCAL1							88.0	88.0	88.0					12																	9885637		2203	4300	6503	SO:0001589	frameshift_variant	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885637delA	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.224delT	12.37:g.9885637delA	ENSP00000331766:p.Leu75fs						p.L75fs	NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN			1	224	-			75			Helical; Signal-anchor for type II membrane protein; (Potential).			Frame_Shift_Del	DEL	ENST00000327839.3	37	c.224delT	CCDS8603.1																																																																																				0.423	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004	
C12orf40	283461	broad.mit.edu	37	12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	ENST00000324616.5	+	4	388	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_ENST00000398716.1_Start_Codon_SNP_p.M1I|C12orf40_ENST00000405531.3_Missense_Mutation_p.M78I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279																																						uc001rmc.2																			0				ovary(6)	6						c.(232-234)ATG>ATC		hypothetical protein LOC283461							97.0	88.0	91.0					12																	40040162		1800	4074	5874	SO:0001583	missense	283461							g.chr12:40040162G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.234G>C	12.37:g.40040162G>C	ENSP00000317671:p.Met78Ile					C12orf40_uc009zjv.1_RNA	p.M78I	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			4	401	+			78					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.234G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380180	0.42207	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.40476	1.03;1.04	5.35	3.5	0.40072	.	0.000000	0.56097	D	0.000024	T	0.27866	0.0686	L	0.29908	0.895	0.24866	N	0.992319	B	0.30851	0.297	B	0.26202	0.067	T	0.20773	-1.0265	10	0.54805	T	0.06	.	8.7168	0.34416	0.1854:0.0:0.8146:0.0	.	78	Q86WS4	CL040_HUMAN	I	78;1;78	ENSP00000383897:M78I;ENSP00000317671:M78I	ENSP00000317671:M78I	M	+	3	0	C12orf40	38326429	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.526000	0.53509	1.401000	0.46761	-0.142000	0.14014	ATG		0.279	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
DHRS2	10202	broad.mit.edu	37	14	24108199	24108199	+	Silent	SNP	G	G	A	rs372558157		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	ENST00000250383.6	+	2	602	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.T42T	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	42					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597																																						uc001wkt.3																			0				large_intestine(1)|ovary(1)	2						c.(124-126)ACG>ACA		dehydrogenase/reductase member 2 isoform 1		G	,	0,4406		0,0,2203	72.0	75.0	74.0		126,126	-10.8	0.0	14		74	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	DHRS2	NM_005794.3,NM_182908.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	42/281,42/301	24108199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108199G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.126G>A	14.37:g.24108199G>A						DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.3_Silent_p.T42T|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.T42T	p.T42T	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	2	573	+			20			NAD or NADP (By similarity).		D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.126G>A	CCDS9604.1																																																																																				0.597	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
TICRR	90381	broad.mit.edu	37	15	90168464	90168464	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	ENST00000268138.7	+	20	5028	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.T1640T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1641					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGGGCAAACCTACATCTGCC	0.612																																						uc002boe.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4921-4923)ACC>ACT		leucine-rich repeat kinase 1							43.0	45.0	45.0					15																	90168464		2200	4299	6499	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168464C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4923C>T	15.37:g.90168464C>T						C15orf42_uc010upv.1_RNA	p.T1641T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4923	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1641					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4923C>T	CCDS10352.2																																																																																				0.612	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
MSLN	10232	broad.mit.edu	37	16	816982	816982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	ENST00000382862.3	+	14	1590	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_ENST00000563941.1_Missense_Mutation_p.E491K|MSLN_ENST00000545450.2_Missense_Mutation_p.E491K|MSLN_ENST00000566549.1_Missense_Mutation_p.E491K	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	499					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632																																						uc002cjw.1																			0				pancreas(1)	1						c.(1495-1497)GAA>AAA		mesothelin isoform 2 preproprotein							72.0	74.0	74.0					16																	816982		2190	4292	6482	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816982G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1495G>A	16.37:g.816982G>A	ENSP00000372313:p.Glu499Lys					MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjv.1_Missense_Mutation_p.E491K|MSLN_uc002cjx.1_Missense_Mutation_p.E491K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	p.E499K	NM_013404	NP_037536	Q13421	MSLN_HUMAN			14	1546	+		Hepatocellular(780;0.00335)	499					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1495G>A	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	g	10.85	1.466923	0.26335	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17528	2.27;2.27	4.61	0.113	0.14631	.	0.753644	0.11944	N	0.514396	T	0.12178	0.0296	M	0.63843	1.955	0.09310	N	1	P;P;P;P	0.44478	0.803;0.836;0.803;0.803	B;B;B;B	0.29716	0.064;0.106;0.064;0.064	T	0.19418	-1.0306	10	0.49607	T	0.09	-4.9906	5.0831	0.14666	0.2448:0.1578:0.5974:0.0	.	490;499;491;491	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	K	499;491;491;499	ENSP00000442965:E491K;ENSP00000372313:E499K	ENSP00000372313:E499K	E	+	1	0	MSLN	756983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.464000	0.21988	0.202000	0.20498	-0.246000	0.11932	GAA		0.632	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
PPL	5493	broad.mit.edu	37	16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	ENST00000345988.2	-	10	1074	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	PPL_ENST00000590782.2_Missense_Mutation_p.V327M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	329					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577																																						uc002cyd.1																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(985-987)GTG>ATG		periplakin		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	106.0	88.0	94.0		985	-7.2	0.0	16	dbSNP_134	94	0,8600		0,0,4300	no	missense	PPL	NM_002705.4	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	329/1757	4945705	1,12993	2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945705C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.985G>A	16.37:g.4945705C>T	ENSP00000340510:p.Val329Met						p.V329M	NM_002705	NP_002696	O60437	PEPL_HUMAN			10	1075	-			329			Potential.|Spectrin 2.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.985G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	4.899	0.167034	0.09339	2.28E-4	0.0	ENSG00000118898	ENST00000345988	D	0.92805	-3.11	4.12	-7.15	0.01521	.	0.297310	0.31721	N	0.007177	T	0.81024	0.4737	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.64867	-0.6306	10	0.35671	T	0.21	.	2.335	0.04245	0.2058:0.2119:0.1014:0.4809	.	329	O60437	PEPL_HUMAN	M	329	ENSP00000340510:V329M	ENSP00000340510:V329M	V	-	1	0	PPL	4885706	0.000000	0.05858	0.009000	0.14445	0.154000	0.21943	-0.182000	0.09726	-1.749000	0.01330	-0.448000	0.05591	GTG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
SRCAP	10847	broad.mit.edu	37	16	30721206	30721206	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	ENST00000262518.4	+	8	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.E297E|SRCAP_ENST00000344771.4_Silent_p.E297E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	297	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGAGGAAGAGGATGATGAGG	0.522																																						uc002dze.1																			0				ovary(3)|skin(1)	4						c.(889-891)GAG>GAA		Snf2-related CBP activator protein							93.0	72.0	79.0					16																	30721206		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721206G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.891G>A	16.37:g.30721206G>A						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.E154E|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	p.E297E	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		8	1276	+			297			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.891G>A	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ZNF99	7652	broad.mit.edu	37	19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T	rs200740712	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	ENST00000596209.1	-	4	1213	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	ZNF99_ENST00000397104.3_Missense_Mutation_p.G284S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCGCATTCTTCA	0.368													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19704	0.0		0.001	False		,,,				2504	0.0					uc010xrh.1																			0				ovary(1)|skin(1)	2						c.(850-852)GGC>AGC		zinc finger protein 99		C	SER/GLY	7,4057		0,7,2025	90.0	95.0	94.0		850	1.3	0.0	19		94	4,8398		0,4,4197	no	missense	ZNF99	NM_001080409.2	56	0,11,6222	TT,TC,CC		0.0476,0.1722,0.0882	probably-damaging	284/912	22941588	11,12455	2032	4201	6233	SO:0001583	missense	7652							g.chr19:22941588C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1123G>A	19.37:g.22941588C>T	ENSP00000472969:p.Gly375Ser						p.G284S	NM_001080409	NP_001073878					5	850	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.850G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	14.73	2.623956	0.46840	0.001722	4.76E-4	ENSG00000213973	ENST00000397104	T	0.20463	2.07	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.31294	0.92	0.29481	N	0.85635	D	0.89917	1.0	D	0.77557	0.99	T	0.11767	-1.0574	9	0.87932	D	0	.	7.5823	0.27972	0.0:1.0:0.0:0.0	.	284	A8MXY4	ZNF99_HUMAN	S	284	ENSP00000380293:G284S	ENSP00000380293:G284S	G	-	1	0	ZNF99	22733428	0.005000	0.15991	0.032000	0.17829	0.027000	0.11550	0.952000	0.29149	0.675000	0.31264	0.395000	0.25975	GGC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	ENST00000591517.1	-	8	533	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_ENST00000586296.1_Missense_Mutation_p.R169C|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R165C|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R169C|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_De_novo_Start_InFrame	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627																																						uc002oix.1																			0				skin(4)|lung(3)|ovary(1)	8						c.(505-507)CGC>TGC		mitogen-activated protein kinase kinase kinase							36.0	43.0	40.0					19																	39104548		2009	4176	6185	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39104548G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.505C>T	19.37:g.39104548G>A	ENSP00000465039:p.Arg169Cys					MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site	p.R169C	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		169			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.505C>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315842	0.60524	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65178	-0.14	4.6	3.52	0.40303	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.76205	0.3955	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.911	T	0.77469	-0.2576	10	0.87932	D	0	.	10.5799	0.45248	0.0:0.0:0.5194:0.4806	.	169;169	Q92918-2;Q92918	.;M4K1_HUMAN	C	169	ENSP00000380066:R169C	ENSP00000221409:R169C	R	-	1	0	MAP4K1	43796388	0.914000	0.31030	0.998000	0.56505	0.860000	0.49131	1.375000	0.34295	0.870000	0.35726	0.558000	0.71614	CGC		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
ACTN4	81	broad.mit.edu	37	19	39219650	39219650	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	ENST00000252699.2	+	20	2509	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_ENST00000424234.2_Silent_p.F421F|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.F592F	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	811	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			0					0						c.(2431-2433)TTC>TTT		actinin, alpha 4							109.0	85.0	93.0					19																	39219650		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219650C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2433C>T	19.37:g.39219650C>T						ACTN4_uc002ojb.1_Silent_p.F133F	p.F811F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2492	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		811			EF-hand 2.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2433C>T	CCDS12518.1																																																																																				0.632	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
NCCRP1	342897	broad.mit.edu	37	19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	ENST00000339852.4	+	6	800	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	260	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1																			0				ovary(1)	1						c.(778-780)CGG>TGG		non-specific cytotoxic cell receptor protein 1							183.0	174.0	177.0					19																	39691346		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691346C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.778C>T	19.37:g.39691346C>T	ENSP00000342137:p.Arg260Trp						p.R260W	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			6	797	+			260			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.778C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625842	0.46840	.	.	ENSG00000188505	ENST00000339852	T	0.28666	1.6	4.96	3.92	0.45320	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.857164	0.10567	N	0.659550	T	0.28962	0.0719	L	0.44542	1.39	0.35539	D	0.802927	B	0.18461	0.028	B	0.17722	0.019	T	0.21280	-1.0250	10	0.56958	D	0.05	-17.9043	11.0185	0.47705	0.0:0.9076:0.0:0.0924	.	260	Q6ZVX7	NCRP1_HUMAN	W	260	ENSP00000342137:R260W	ENSP00000342137:R260W	R	+	1	2	NCCRP1	44383186	0.960000	0.32886	0.905000	0.35620	0.077000	0.17291	2.206000	0.42779	1.094000	0.41399	0.484000	0.47621	CGG		0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414	
FCGBP	8857	broad.mit.edu	37	19	40396029	40396029	+	Silent	SNP	C	C	T	rs587716286		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	ENST00000221347.6	-	15	7375	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2456	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22097	0.0		0.0	False		,,,				2504	0.0					uc002omp.3																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(7366-7368)TCG>TCA		Fc fragment of IgG binding protein precursor							91.0	64.0	73.0					19																	40396029		2178	3880	6058	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40396029C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7368G>A	19.37:g.40396029C>T							p.S2456S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7376	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2456			VWFD 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.7368G>A	CCDS12546.1																																																																																				0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
ZNF526	116115	broad.mit.edu	37	19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	ENST00000301215.3	+	3	1904	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652																																						uc002osz.1																			0					0						c.(1678-1680)CCC>CTC		zinc finger protein 526							37.0	39.0	38.0					19																	42730234		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730234C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1679C>T	19.37:g.42730234C>T	ENSP00000301215:p.Pro560Leu						p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1835	+		Prostate(69;0.0704)	560					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1679C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938529	0.52972	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.10860	2.83	4.76	1.28	0.21552	.	0.543451	0.17367	N	0.176812	T	0.03959	0.0111	N	0.08118	0	0.36928	D	0.891755	B	0.18863	0.031	B	0.16289	0.015	T	0.39961	-0.9588	10	0.07030	T	0.85	-19.2193	6.4306	0.21794	0.4703:0.445:0.0:0.0847	.	560	Q8TF50	ZN526_HUMAN	L	416;560	ENSP00000301215:P560L	ENSP00000301215:P560L	P	+	2	0	ZNF526	47422074	0.987000	0.35691	0.799000	0.32177	0.921000	0.55340	1.203000	0.32284	0.283000	0.22279	0.561000	0.74099	CCC		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401	
CCDC85A	114800	broad.mit.edu	37	2	56599613	56599613	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	ENST00000407595.2	+	4	1954	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517																																						uc002rzn.2																			0				breast(3)|ovary(2)	5						c.(1450-1452)CCG>CCA		coiled-coil domain containing 85A							34.0	38.0	36.0					2																	56599613		2000	4174	6174	SO:0001630	splice_region_variant	114800							g.chr2:56599613G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1452+1G>A	2.37:g.56599613G>A							p.P484P	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1954	+			484						Silent	SNP	ENST00000407595.2	37	c.1452G>A	CCDS46290.1																																																																																				0.517	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		Silent
BCL11A	53335	broad.mit.edu	37	2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	ENST00000335712.6	-	4	1851	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_ENST00000537768.1_Missense_Mutation_p.A211T|BCL11A_ENST00000358510.4_Missense_Mutation_p.A508T|BCL11A_ENST00000356842.4_Missense_Mutation_p.A542T|BCL11A_ENST00000538214.1_Missense_Mutation_p.A508T|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	542					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1624-1626)GCC>ACC		B-cell CLL/lymphoma 11A isoform 1							17.0	17.0	17.0					2																	60688423		2192	4280	6472	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688423C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1624G>A	2.37:g.60688423C>T	ENSP00000338774:p.Ala542Thr					BCL11A_uc002sab.2_Missense_Mutation_p.A542T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A211T|BCL11A_uc010ypj.1_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	p.A542T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1852	-			542					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1624G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380501	0.05000	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08282	3.11;3.4;3.28;3.4;3.34	5.46	-0.305	0.12784	.	5.843420	0.00659	N	0.000591	T	0.04815	0.0130	N	0.14661	0.345	0.30836	N	0.736239	B;B;B;B;B	0.33549	0.362;0.003;0.0;0.057;0.417	B;B;B;B;B	0.27170	0.077;0.002;0.001;0.008;0.054	T	0.25779	-1.0122	10	0.34782	T	0.22	2.2061	3.1564	0.06505	0.2503:0.326:0.3348:0.0888	.	508;211;508;542;542	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	T	542;567;508;211;542;508	ENSP00000349300:A542T;ENSP00000438303:A508T;ENSP00000443712:A211T;ENSP00000338774:A542T;ENSP00000351307:A508T	ENSP00000338774:A542T	A	-	1	0	BCL11A	60541927	0.977000	0.34250	0.785000	0.31869	0.090000	0.18270	2.468000	0.45102	0.014000	0.14944	-0.142000	0.14014	GCC		0.701	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
SGPP2	130367	broad.mit.edu	37	2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	ENST00000321276.7	+	5	1092	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	336					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478																																						uc010zlo.1																			0				central_nervous_system(1)|skin(1)	2						c.(1006-1008)CTC>TTC		sphingosine-1-phosphate phosphotase 2							126.0	117.0	120.0					2																	223423423		2203	4300	6503	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423423C>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1006C>T	2.37:g.223423423C>T	ENSP00000315137:p.Leu336Phe					SGPP2_uc010zlp.1_Missense_Mutation_p.L208F	p.L336F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	5	1006	+		Renal(207;0.0376)	336			Helical; (Potential).		A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.1006C>T	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151424	0.38021	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.4	3.27	0.37495	.	0.241765	0.35407	N	0.003234	T	0.43743	0.1261	L	0.34521	1.04	0.46654	D	0.999146	B	0.19331	0.035	B	0.15484	0.013	T	0.29027	-1.0025	9	0.21014	T	0.42	-23.0354	12.9184	0.58218	0.0:0.8458:0.0:0.1542	.	336	Q8IWX5	SGPP2_HUMAN	F	336	.	ENSP00000315137:L336F	L	+	1	0	SGPP2	223131667	0.777000	0.28628	0.999000	0.59377	0.996000	0.88848	0.137000	0.15995	1.290000	0.44636	0.655000	0.94253	CTC		0.478	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
NCOA6	23054	broad.mit.edu	37	20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	ENST00000374796.2	-	5	2817	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_ENST00000359003.2_Missense_Mutation_p.L83I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	83	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTACTTTTAGCTTGCTGGAC	0.438																																						uc002xav.2																			0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(247-249)CTA>ATA		nuclear receptor coactivator 6							79.0	76.0	77.0					20																	33364240		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364240G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.247C>A	20.37:g.33364240G>T	ENSP00000363929:p.Leu83Ile					NCOA6_uc002xaw.2_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			5	2818	-			83			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.247C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920816	0.92249	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.40476	1.03;1.03	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000083	T	0.58764	0.2145	L	0.57536	1.79	0.52501	D	0.999959	D;P	0.67145	0.996;0.727	D;P	0.80764	0.994;0.67	T	0.59643	-0.7416	10	0.87932	D	0	-9.8487	11.3404	0.49529	0.1094:0.0:0.8906:0.0	.	83;83	F6M2K2;Q14686	.;NCOA6_HUMAN	I	83	ENSP00000363929:L83I;ENSP00000351894:L83I	ENSP00000351894:L83I	L	-	1	2	NCOA6	32827901	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.073000	0.50057	2.882000	0.98803	0.655000	0.94253	CTA		0.438	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
SPO11	23626	broad.mit.edu	37	20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	ENST00000371263.3	+	3	409	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_ENST00000345868.4_Missense_Mutation_p.I62M|SPO11_ENST00000371260.4_Missense_Mutation_p.I62M	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	100					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.I100I(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases																														uc002xye.2																			1	Substitution - coding silent(1)		large_intestine(1)	breast(2)|skin(1)	3						c.(298-300)ATC>ATG	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							78.0	83.0	81.0					20																	55908298		2203	4299	6502	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55908298C>G	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.300C>G	20.37:g.55908298C>G	ENSP00000360310:p.Ile100Met					SPO11_uc002xyf.2_Missense_Mutation_p.I62M	p.I100M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		3	393	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		100					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.300C>G	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523176	0.44866	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.18960	2.18;2.21;2.2;2.19	5.39	4.38	0.52667	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.371908	0.30930	N	0.008583	T	0.29556	0.0737	L	0.53249	1.67	0.32383	N	0.554346	P;P	0.51351	0.944;0.922	P;P	0.54629	0.757;0.653	T	0.17930	-1.0353	10	0.34782	T	0.22	-12.2568	8.5424	0.33402	0.2156:0.6477:0.1367:0.0	.	62;100	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	M	100;62;62;78	ENSP00000360310:I100M;ENSP00000316034:I62M;ENSP00000360307:I62M;ENSP00000413185:I78M	ENSP00000316034:I62M	I	+	3	3	SPO11	55341705	0.792000	0.28813	1.000000	0.80357	0.715000	0.41141	0.143000	0.16115	2.702000	0.92279	0.591000	0.81541	ATC		0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
OSBPL2	9885	broad.mit.edu	37	20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	ENST00000313733.3	+	2	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G3R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	3					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483																																						uc002yck.1																			0				ovary(1)|central_nervous_system(1)	2						c.(7-9)GGA>AGA		oxysterol-binding protein-like protein 2 isoform							118.0	93.0	102.0					20																	60831247		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60831247G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.7G>A	20.37:g.60831247G>A	ENSP00000316649:p.Gly3Arg					OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	p.G3R	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		2	209	+	Breast(26;7.76e-09)		3					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.7G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291788	0.59976	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.44083	0.95;0.93	5.41	3.28	0.37604	.	0.316549	0.35262	N	0.003330	T	0.27419	0.0673	N	0.22421	0.69	0.80722	D	1	P;P	0.45768	0.866;0.789	P;B	0.44772	0.46;0.271	T	0.10941	-1.0608	10	0.66056	D	0.02	-18.4542	1.9496	0.03364	0.2415:0.0:0.4487:0.3099	.	3;3	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	R	3	ENSP00000350755:G3R;ENSP00000316649:G3R	ENSP00000316649:G3R	G	+	1	0	OSBPL2	60264642	1.000000	0.71417	0.965000	0.40720	0.917000	0.54804	2.537000	0.45702	0.544000	0.28883	0.561000	0.74099	GGA		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
PIWIL3	440822	broad.mit.edu	37	22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	ENST00000332271.5	-	7	1111	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.T123I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T123I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	232					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333																																						uc003abd.1																			0				ovary(3)|central_nervous_system(1)	4						c.(694-696)ACT>ATT		piwi-like 3							90.0	93.0	92.0					22																	25150829		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150829G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.695C>T	22.37:g.25150829G>A	ENSP00000330031:p.Thr232Ile					PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I	p.T232I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			7	1112	-			232						Missense_Mutation	SNP	ENST00000332271.5	37	c.695C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.362695	0.00212	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.08102	3.13;3.13;3.13	2.41	-1.07	0.09968	Argonaute/Dicer protein, PAZ (1);	0.577847	0.17198	N	0.183243	T	0.01061	0.0035	N	0.00068	-2.285	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.43572	-0.9383	10	0.02654	T	1	-1.3307	5.8902	0.18909	0.4815:0.0:0.5185:0.0	.	123;232;232	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	232;123;123	ENSP00000330031:T232I;ENSP00000431843:T123I;ENSP00000435718:T123I	ENSP00000330031:T232I	T	-	2	0	PIWIL3	23480829	0.999000	0.42202	0.057000	0.19452	0.002000	0.02628	1.143000	0.31553	-0.325000	0.08577	-0.391000	0.06502	ACT		0.333	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PKDREJ	10343	broad.mit.edu	37	22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	ENST00000253255.5	-	1	3645	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1216					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448																																						uc003bhh.2																			0				breast(3)|ovary(2)	5						c.(3646-3648)GGG>AGG		receptor for egg jelly-like protein precursor							111.0	113.0	112.0					22																	46655574		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655574C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3646G>A	22.37:g.46655574C>T	ENSP00000253255:p.Gly1216Arg						p.G1216R	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3646	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1216			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3646G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	4.044	0.005752	0.07866	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	5.04	1.52	0.23074	.	1.051940	0.07427	N	0.895102	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	1	B	0.23540	0.087	B	0.16722	0.016	T	0.29212	-1.0019	10	0.15499	T	0.54	-4.0818	5.8175	0.18500	0.1301:0.3852:0.41:0.0746	.	1216	Q9NTG1	PKDRE_HUMAN	R	1216	ENSP00000253255:G1216R	ENSP00000253255:G1216R	G	-	1	0	PKDREJ	45034238	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	0.897000	0.28390	0.189000	0.20188	0.561000	0.74099	GGG		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
LHFPL4	375323	broad.mit.edu	37	3	9594193	9594193	+	Silent	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	ENST00000287585.6	-	2	456	c.171C>A	c.(169-171)ggC>ggA	p.G57G	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	71						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652																																						uc003bry.2																			0				ovary(2)|skin(1)	3						c.(169-171)GGC>GGA		lipoma HMGIC fusion partner-like 4							45.0	51.0	49.0					3																	9594193		2203	4300	6503	SO:0001819	synonymous_variant	375323					integral to membrane		g.chr3:9594193G>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.171C>A	3.37:g.9594193G>T							p.G57G	NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN			2	457	-	Medulloblastoma(99;0.227)		57					A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	c.171C>A	CCDS33691.1																																																																																				0.652	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
NPRL2	10641	broad.mit.edu	37	3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	ENST00000232501.3	-	5	1000	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	188					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537																																						uc003daj.1																			0				lung(1)	1						c.(562-564)CAG>TAG		tumor suppressor candidate 4							152.0	140.0	144.0					3																	50386328		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386328G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.562C>T	3.37:g.50386328G>A	ENSP00000232501:p.Gln188*					NPRL2_uc003dai.1_Nonsense_Mutation_p.Q68*|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	p.Q188*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			5	965	-			188					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.562C>T	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	39	7.625877	0.98396	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.4319	19.5689	0.95404	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000232501:Q188X	Q	-	1	0	NPRL2	50361332	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.777000	0.99008	2.626000	0.88956	0.655000	0.94253	CAG		0.537	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	
NPRL2	10641	broad.mit.edu	37	3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	ENST00000232501.3	-	2	554_555	c.116_117delCA	c.(115-117)acafs	p.T39fs	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	39	Interaction with PDPK1.				negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559																																						uc003daj.1																			0				lung(1)	1						c.(115-117)ACAfs		tumor suppressor candidate 4																																				SO:0001589	frameshift_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50387415_50387416delTG	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.116_117delCA	3.37:g.50387417_50387418delTG	ENSP00000232501:p.Thr39fs					NPRL2_uc003dai.1_5'UTR|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	p.T39fs	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			2	519_520	-			39			Interaction with PDPK1.		A8K831|Q6FGS2|Q9Y249|Q9Y497	Frame_Shift_Del	DEL	ENST00000232501.3	37	c.116_117delCA	CCDS2826.1																																																																																				0.559	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	
KLHL6	89857	broad.mit.edu	37	3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	ENST00000341319.3	-	3	783	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	250	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552																																						uc003flr.2																			0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(748-750)CGA>TGA		kelch-like 6							161.0	141.0	148.0					3																	183226008		2203	4300	6503	SO:0001587	stop_gained	89857							g.chr3:183226008G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.748C>T	3.37:g.183226008G>A	ENSP00000341342:p.Arg250*					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	p.R250*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	806	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		250			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Nonsense_Mutation	SNP	ENST00000341319.3	37	c.748C>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	36	5.844758	0.97016	.	.	ENSG00000172578	ENST00000341319	.	.	.	5.87	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3164	0.74081	0.0:0.0:0.6375:0.3625	.	.	.	.	X	250	.	ENSP00000341342:R250X	R	-	1	2	KLHL6	184708702	0.946000	0.32159	0.985000	0.45067	0.958000	0.62258	1.228000	0.32588	1.582000	0.49881	0.655000	0.94253	CGA		0.552	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	
PDS5A	23244	broad.mit.edu	37	4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	ENST00000303538.8	-	24	3205	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348																																						uc003guv.3																			0					0						c.(2665-2667)CGA>CAA		PDS5, regulator of cohesion maintenance, homolog							69.0	66.0	67.0					4																	39865056		1860	4109	5969	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39865056C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2666G>A	4.37:g.39865056C>T	ENSP00000303427:p.Arg889Gln					PDS5A_uc010ifo.2_Missense_Mutation_p.R849Q	p.R889Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			24	3206	-			889						Missense_Mutation	SNP	ENST00000303538.8	37	c.2666G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726650	0.96847	.	.	ENSG00000121892	ENST00000303538	T	0.70869	-0.52	5.21	5.21	0.72293	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85930	0.1451	9	.	.	.	-5.9805	18.7467	0.91795	0.0:1.0:0.0:0.0	.	889	Q29RF7	PDS5A_HUMAN	Q	889	ENSP00000303427:R889Q	.	R	-	2	0	PDS5A	39541451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	CGA		0.348	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
FRAS1	80144	broad.mit.edu	37	4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	ENST00000325942.6	+	36	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1610S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1610					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCAGGAGGCAGCACTTC	0.527																																						uc003hlb.2																			0				large_intestine(5)	5						c.(4828-4830)GGC>AGC		Fraser syndrome 1							44.0	46.0	46.0					4																	79350365		2036	4181	6217	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79350365G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4828G>A	4.37:g.79350365G>A	ENSP00000326330:p.Gly1610Ser					FRAS1_uc003hkw.2_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.1_Missense_Mutation_p.G30S	p.G1610S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			36	5268	+			1609			CSPG 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4828G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.65|19.65	3.866883|3.866883	0.72065|0.72065	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|.	0.58652|.	0.32;0.32|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.056139|.	0.64402|.	D|.	0.000001|.	T|T	0.75561|0.75561	0.3866|0.3866	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.76071|.	0.924;0.987|.	T|T	0.73316|0.73316	-0.4021|-0.4021	10|5	0.66056|.	D|.	0.02|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1610;1610|.	E9PHH6;A2RRR8|.	.;.|.	S|K	1610;1610;30|59	ENSP00000326330:G1610S;ENSP00000264895:G1610S|.	ENSP00000264895:G1610S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79569389|79569389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.119000|0.119000	0.20118|0.20118	7.305000|7.305000	0.78891|0.78891	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
KLHL2	11275	broad.mit.edu	37	4	166200284	166200284	+	Intron	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:166200284G>A	ENST00000226725.6	+	6	803				KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000514860.1_Intron|KLHL2_ENST00000538127.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAAGAGCTCGTTTTTCTTCA	0.453																																						uc003ird.3																			0					0						c.(514-516)CGA>TGA		glycerol kinase isoform b																																				SO:0001627	intron_variant	2713							g.chr4:166200284G>A	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.545-15227G>A	4.37:g.166200284G>A						KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	p.R172*	NM_000167	NP_000158					1	892	-								A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Nonsense_Mutation	SNP	ENST00000226725.6	37	c.514C>T	CCDS34094.1																																																																																				0.453	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(982-984)GCG>GTG		tripartite motif family-like 1		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	98.0	92.0	94.0		983	4.9	1.0	4	dbSNP_134	94	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	328/469	189068102	2,13004	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068102C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.983C>T	4.37:g.189068102C>T	ENSP00000327738:p.Ala328Val					TRIML1_uc003izn.1_Missense_Mutation_p.A52V	p.A328V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1098	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	328			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.983C>T	CCDS3851.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.92	2.081718	0.36758	4.54E-4	0.0	ENSG00000184108	ENST00000332517	T	0.12147	2.71	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000060	T	0.11707	0.0285	L	0.42008	1.315	0.32138	N	0.585837	P	0.48834	0.916	B	0.42422	0.387	T	0.04041	-1.0982	10	0.17369	T	0.5	-22.406	9.4112	0.38494	0.0:0.9057:0.0:0.0943	.	328	Q8N9V2	TRIML_HUMAN	V	328	ENSP00000327738:A328V	ENSP00000327738:A328V	A	+	2	0	TRIML1	189305096	0.000000	0.05858	0.970000	0.41538	0.418000	0.31294	0.050000	0.14120	2.749000	0.94314	0.550000	0.68814	GCG		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	ENST00000265104.4	-	60	10334	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3410	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10228-10230)ACG>ACA		dynein, axonemal, heavy chain 5							87.0	85.0	86.0					5																	13762882		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762882C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10230G>A	5.37:g.13762882C>T						DNAH5_uc003jfc.2_5'UTR	p.T3410T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			60	10272	-	Lung NSC(4;0.00476)		3410			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10230G>A	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
OCLN	100506658	broad.mit.edu	37	5	68805301	68805301	+	Silent	SNP	C	C	T	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	ENST00000355237.2	+	3	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_ENST00000380766.2_Silent_p.Y128Y|OCLN_ENST00000396442.2_Silent_p.Y128Y|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	128	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488																																						uc003jwu.2																			0					0						c.(382-384)TAC>TAT		occludin		C	,,	3,4403	6.2+/-15.9	0,3,2200	123.0	95.0	105.0		384,,384	-10.0	0.1	5	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	OCLN	NM_001205254.1,NM_001205255.1,NM_002538.3	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	128/523,,128/523	68805301	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4950							g.chr5:68805301C>T	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.384C>T	5.37:g.68805301C>T						OCLN_uc003jwv.3_Silent_p.Y128Y	p.Y128Y	NM_002538	NP_002529				OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	820	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)						B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	c.384C>T	CCDS4006.1																																																																																				0.488	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538	
ADAMTS19	171019	broad.mit.edu	37	5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	ENST00000274487.4	+	17	2717	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	858	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGAACTACCGTTCATTATGT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17177	0.0		0.001	False		,,,				2504	0.0					uc003kvb.1																			0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2572-2574)GTT>ATT		ADAM metallopeptidase with thrombospondin type 1		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	98.0	98.0	98.0		2572	3.7	0.6	5	dbSNP_134	98	0,8600		0,0,4300	yes	missense	ADAMTS19	NM_133638.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	858/1208	129015540	2,13004	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129015540G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2572G>A	5.37:g.129015540G>A	ENSP00000274487:p.Val858Ile					ADAMTS19_uc010jdh.1_RNA	p.V858I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	17	2572	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	858			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2572G>A	CCDS4146.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.40	3.111945	0.56398	4.54E-4	0.0	ENSG00000145808	ENST00000274487	T	0.52057	0.68	4.54	3.67	0.42095	ADAM-TS Spacer 1 (1);	0.173640	0.35903	N	0.002903	T	0.37019	0.0988	N	0.26130	0.795	0.47698	D	0.999491	D	0.55385	0.971	P	0.44673	0.457	T	0.13442	-1.0509	9	.	.	.	.	13.4779	0.61318	0.0769:0.0:0.9231:0.0	.	858	Q8TE59	ATS19_HUMAN	I	858	ENSP00000274487:V858I	.	V	+	1	0	ADAMTS19	129043439	1.000000	0.71417	0.647000	0.29507	0.524000	0.34500	7.027000	0.76463	1.500000	0.48636	0.650000	0.86243	GTT		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
GPX5	2880	broad.mit.edu	37	6	28497279	28497279	+	Missense_Mutation	SNP	G	G	A	rs60523386	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr6:28497279G>A	ENST00000412168.2	+	2	228	c.139G>A	c.(139-141)Gca>Aca	p.A47T	GPX5_ENST00000469384.1_Missense_Mutation_p.A47T|GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	47					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.A47T(2)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGAGGCCATCGCACTTAATAA	0.428													G|||	30	0.00599042	0.0182	0.0	5008	,	,		17371	0.0		0.001	False		,,,				2504	0.0051					uc003nll.2																			2	Substitution - Missense(2)		endometrium(2)	skin(1)	1						c.(139-141)GCA>ACA		glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)	G	THR/ALA,THR/ALA	38,4368	42.3+/-75.8	0,38,2165	164.0	135.0	145.0		139,139	-0.7	0.0	6	dbSNP_129	145	0,8600		0,0,4300	yes	missense,missense	GPX5	NM_001509.2,NM_003996.3	58,58	0,38,6465	AA,AG,GG		0.0,0.8625,0.2922	benign,benign	47/222,47/101	28497279	38,12968	2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497279G>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.139G>A	6.37:g.28497279G>A	ENSP00000392398:p.Ala47Thr					GPX5_uc003nlm.2_Missense_Mutation_p.A47T|GPX5_uc003nln.2_RNA	p.A47T	NM_001509	NP_001500	O75715	GPX5_HUMAN			2	141	+			47					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.139G>A	CCDS4652.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	0.003	-2.575670	0.00131	0.008625	0.0	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03580	3.88;3.88	3.65	-0.659	0.11424	Thioredoxin-like fold (2);	0.262995	0.36482	N	0.002570	T	0.00210	0.0006	N	0.00260	-1.75	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.003	T	0.25916	-1.0118	10	0.02654	T	1	-25.4133	3.5103	0.07705	0.6251:0.0:0.2073:0.1677	rs60523386;rs61744383	47;47	A1A4Y0;O75715	.;GPX5_HUMAN	T	47	ENSP00000392398:A47T;ENSP00000419935:A47T	ENSP00000392398:A47T	A	+	1	0	GPX5	28605258	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.347000	0.33975	-0.060000	0.13132	-1.105000	0.02106	GCA		0.428	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
CARD11	84433	broad.mit.edu	37	7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	ENST00000396946.4	-	5	962	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	187					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(559-561)CGG>TGG		caspase recruitment domain family, member 11							248.0	154.0	186.0					7																	2983971		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983971G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.559C>T	7.37:g.2983971G>A	ENSP00000380150:p.Arg187Trp						p.R187W	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	963	-		Ovarian(82;0.0115)	187			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.559C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710363	0.48517	.	.	ENSG00000198286	ENST00000396946	T	0.36157	1.27	4.46	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.20881	0.62	0.52099	D	0.999945	B	0.27971	0.196	B	0.17722	0.019	T	0.05632	-1.0873	10	0.37606	T	0.19	-27.5118	7.2254	0.26012	0.0992:0.0:0.6097:0.2911	.	187	Q9BXL7	CAR11_HUMAN	W	187	ENSP00000380150:R187W	ENSP00000380150:R187W	R	-	1	2	CARD11	2950497	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.135000	0.42112	1.000000	0.39049	0.561000	0.74099	CGG		0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
HERPUD2	64224	broad.mit.edu	37	7	35712865	35712865	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	ENST00000396081.1	-	2	975	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_ENST00000311350.3_Silent_p.V57V	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373																																						uc003tet.2																			0				ovary(3)	3						c.(169-171)GTG>GTA		HERPUD family member 2							113.0	109.0	110.0					7																	35712865		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35712865C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.171G>A	7.37:g.35712865C>T						HERPUD2_uc003tes.3_Silent_p.V57V	p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			2	976	-			57			Ubiquitin-like.		A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.171G>A	CCDS5446.1																																																																																				0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						uc003tln.2																			1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)ATTfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	342	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
STRIP2	57464	broad.mit.edu	37	7	129104580	129104580	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	ENST00000249344.2	+	16	1816		c.e16+1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TATCTACCAGGTGAGCAGCTA	0.468																																						uc011koy.1																			0					0						c.e16+1		hypothetical protein LOC57464 isoform a							123.0	119.0	120.0					7																	129104580		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129104580G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1776+1G>A	7.37:g.129104580G>A						FAM40B_uc003vow.2_Splice_Site_p.Q592_splice|FAM40B_uc011koz.1_Splice_Site_p.Q84_splice	p.Q592_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			16	1816	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37	c.1776_splice	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083909	0.76642	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0999	0.89503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128891816	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	.		0.468	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron
CREB3L2	64764	broad.mit.edu	37	7	137686380	137686380	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	ENST00000330387.6	-	1	423	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_ENST00000452463.1_Silent_p.P24P|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000456390.1_Silent_p.P24P	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	24					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma																																	uc003vtw.2				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(70-72)CCC>CCT		cAMP responsive element binding protein 3-like							33.0	34.0	34.0					7																	137686380		2203	4299	6502	SO:0001819	synonymous_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137686380G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.72C>T	7.37:g.137686380G>A						CREB3L2_uc003vtx.1_Silent_p.P24P|CREB3L2_uc003vty.3_Silent_p.P24P|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	p.P24P	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			1	467	-			24			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.72C>T	CCDS34760.1																																																																																				0.706	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					uc011ksq.1																			0					0						c.(70-72)ATC>ATT		SubName: Full=Protease, serine, 3; Flags: Fragment;							103.0	70.0	80.0					7																	142479940		692	1590	2282			154754							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA	p.I24I	NR_001296						2	155	+									Silent	SNP	ENST00000603901.1	37	c.72C>T																																																																																					0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
TAS2R60	338398	broad.mit.edu	37	7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	ENST00000332690.1	+	1	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	6					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468																																						uc011ktg.1																			0				skin(6)	6						c.(16-18)ATG>ACG		taste receptor, type 2, member 60							182.0	172.0	176.0					7																	143140562		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140562T>C	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.17T>C	7.37:g.143140562T>C	ENSP00000327724:p.Met6Thr					uc003wda.2_Intron	p.M6T	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	17	+	Melanoma(164;0.172)		6			Extracellular (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.17T>C	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	T	3.364	-0.129801	0.06753	.	.	ENSG00000185899	ENST00000332690	T	0.36520	1.25	5.53	-4.85	0.03142	.	1.306110	0.05758	N	0.604461	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18429	-1.0337	10	0.19590	T	0.45	.	3.3311	0.07084	0.1371:0.4565:0.1403:0.2662	.	6	P59551	T2R60_HUMAN	T	6	ENSP00000327724:M6T	ENSP00000327724:M6T	M	+	2	0	TAS2R60	142850684	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.762000	0.04745	-0.595000	0.05828	-0.256000	0.11100	ATG		0.468	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1		
SSPO	23145	broad.mit.edu	37	7	149509076	149509076	+	RNA	SNP	C	C	T	rs139588484	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	ENST00000378016.2	+	0	9622							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14959	0.0		0.002	False		,,,				2504	0.0					uc010lpk.2																			0					0						c.(9622-9624)CGG>TGG		SCO-spondin precursor							29.0	33.0	32.0					7																	149509076		1996	4157	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509076C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509076C>T							p.R3208W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9622	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3208			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9622C>T																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
DOCK5	80005	broad.mit.edu	37	8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	ENST00000276440.7	+	17	1723	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	560	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(1678-1680)ACC>AAC		dedicator of cytokinesis 5							92.0	77.0	82.0					8																	25181427		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25181427C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1679C>A	8.37:g.25181427C>A	ENSP00000276440:p.Thr560Asn					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.2_Missense_Mutation_p.T130N|DOCK5_uc003xej.2_5'Flank	p.T560N	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	17	1816	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	560			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1679C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145113|5.145113	0.94603|0.94603	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.15256	.|2.44	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54159|0.54159	0.1841|0.1841	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.986;0.999	.|D;D;D	.|0.75020	.|0.985;0.98;0.985	T|T	0.64433|0.64433	-0.6409|-0.6409	5|10	.|0.72032	.|D	.|0.01	.|.	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|550;335;560	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	Q|N	331|560	.|ENSP00000276440:T560N	.|ENSP00000276440:T560N	H|T	+|+	3|2	2|0	DOCK5|DOCK5	25237344|25237344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.776000|7.776000	0.85560|0.85560	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
TEX15	56154	broad.mit.edu	37	8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	ENST00000256246.2	-	1	6270	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2066					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGACCATGACGATTTCAATA	0.338																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(6196-6198)GTC>ATC		testis expressed 15							43.0	44.0	44.0					8																	30700338		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30700338C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6196G>A	8.37:g.30700338C>T	ENSP00000256246:p.Val2066Ile						p.V2066I	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6196	-			2066						Missense_Mutation	SNP	ENST00000256246.2	37	c.6196G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605693	0.14002	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.33	3.46	0.39613	.	0.550750	0.16208	N	0.224613	T	0.15912	0.0383	L	0.59436	1.845	0.09310	N	0.999997	P	0.50066	0.931	B	0.42062	0.374	T	0.08452	-1.0721	10	0.87932	D	0	.	10.1728	0.42920	0.1437:0.5782:0.2781:0.0	.	2066	Q9BXT5	TEX15_HUMAN	I	2066	ENSP00000256246:V2066I	ENSP00000256246:V2066I	V	-	1	0	TEX15	30819880	0.002000	0.14202	0.503000	0.27626	0.455000	0.32408	0.087000	0.14958	0.685000	0.31468	0.585000	0.79938	GTC		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PCMTD1	115294	broad.mit.edu	37	8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	ENST00000360540.5	-	7	1191	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.E262V|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.E186V	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	262						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408																																						uc003xqx.3																			0					0						c.(784-786)GAG>GTG		protein-L-isoaspartate (D-aspartate)							92.0	97.0	95.0					8																	52733200		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733200T>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.785A>T	8.37:g.52733200T>A	ENSP00000353739:p.Glu262Val					PCMTD1_uc011ldm.1_Missense_Mutation_p.E132V|PCMTD1_uc003xqw.3_Missense_Mutation_p.E262V|PCMTD1_uc011ldn.1_Missense_Mutation_p.E74V|PCMTD1_uc010lya.2_Missense_Mutation_p.E186V	p.E262V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1126	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	262					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.785A>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313125	0.81358	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.48522	0.81;0.81;0.81	5.77	5.77	0.91146	.	0.156649	0.56097	D	0.000025	T	0.61677	0.2366	L	0.46614	1.455	0.80722	D	1	D;D;B	0.76494	0.966;0.999;0.047	P;D;B	0.68943	0.543;0.961;0.023	T	0.60586	-0.7234	10	0.44086	T	0.13	-22.3297	16.0858	0.81049	0.0:0.0:0.0:1.0	.	132;186;262	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	V	262;186;262	ENSP00000353739:E262V;ENSP00000444026:E186V;ENSP00000428099:E262V	ENSP00000353739:E262V	E	-	2	0	PCMTD1	52895753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.244000	0.78228	2.198000	0.70561	0.533000	0.62120	GAG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
TCEA1	6917	broad.mit.edu	37	8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	ENST00000521604.2	-	7	984	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Missense_Mutation_p.R173K	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	194	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma																																	uc003xru.2				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0					0						c.(580-582)AGG>AAG		transcription elongation factor A 1 isoform 1							79.0	66.0	70.0					8																	54897020		1801	4059	5860	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54897020C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.581G>A	8.37:g.54897020C>T	ENSP00000428426:p.Arg194Lys					TCEA1_uc003xrv.2_Missense_Mutation_p.R173K|TCEA1_uc011ldw.1_Intron|TCEA1_uc010lyg.2_RNA	p.R194K	NM_006756	NP_006747	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		7	904	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	194			TFIIS central.		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.581G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470826	0.96274	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.42131	0.98;0.98	5.15	5.15	0.70609	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.66378	2.025	0.80722	D	1	D;P	0.62365	0.991;0.95	D;P	0.63703	0.917;0.859	T	0.66360	-0.5943	10	0.87932	D	0	-26.8695	18.9917	0.92794	0.0:1.0:0.0:0.0	.	173;194	P23193-2;P23193	.;TCEA1_HUMAN	K	173;194	ENSP00000395483:R173K;ENSP00000428426:R194K	ENSP00000395483:R173K	R	-	2	0	TCEA1	55059573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.572000	0.86782	0.491000	0.48974	AGG		0.333	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756	
OPLAH	26873	broad.mit.edu	37	8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A	rs560233274		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	ENST00000426825.1	-	20	2789	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	903					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGCCTGGCGCCCGCAGGGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.0		0.001	False		,,,				2504	0.0					uc003zar.3																			0					0						c.(2707-2709)GCG>GTG		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						47.0	56.0	53.0					8																	145108275		2091	4211	6302	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108275G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2708C>T	8.37:g.145108275G>A	ENSP00000475943:p.Ala903Val					OPLAH_uc003zas.1_Silent_p.G177G	p.A903V	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		20	2790	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		903					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2708C>T		.	.	.	.	.	.	.	.	.	.	G	13.35	2.210938	0.39102	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	.	.	.	0.48762	D	0.999704	D	0.61697	0.99	P	0.54590	0.756	T	0.76937	-0.2774	7	0.54805	T	0.06	.	14.8067	0.69962	0.0:0.0:1.0:0.0	.	903	O14841	OPLA_HUMAN	V	903	.	ENSP00000412071:A903V	A	-	2	0	OPLAH	145180263	1.000000	0.71417	0.942000	0.38095	0.680000	0.39746	4.869000	0.63028	2.069000	0.61940	0.448000	0.29417	GCG		0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
TLE4	7091	broad.mit.edu	37	9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	ENST00000376552.2	+	15	2529	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TLE4_ENST00000376537.4_Missense_Mutation_p.T536M|TLE4_ENST00000376534.4_Missense_Mutation_p.T141M|TLE4_ENST00000265284.6_Missense_Mutation_p.T479M|TLE4_ENST00000376520.4_Missense_Mutation_p.T536M|TLE4_ENST00000376544.3_Missense_Mutation_p.T435M	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	504					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602																																						uc004ald.2																			0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1585-1587)ACG>ATG		transducin-like enhancer protein 4							125.0	120.0	121.0					9																	82333807		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82333807C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1511C>T	9.37:g.82333807C>T	ENSP00000365735:p.Thr504Met					TLE4_uc004alc.2_Missense_Mutation_p.T504M|TLE4_uc010mpr.2_Missense_Mutation_p.T383M|TLE4_uc004ale.2_Missense_Mutation_p.T141M|TLE4_uc011lsq.1_Missense_Mutation_p.T472M|TLE4_uc010mps.2_Missense_Mutation_p.T428M|TLE4_uc004alf.2_Missense_Mutation_p.T443M	p.T529M	NM_007005	NP_008936	O60756	BCE1_HUMAN			16	2435	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1586C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225324	0.95173	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;0.999;1.0	T	0.52026	-0.8630	10	0.87932	D	0	-14.2292	20.6439	0.99570	0.0:1.0:0.0:0.0	.	479;435;536;504	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	M	504;435;536;536;141;479	ENSP00000365735:T504M;ENSP00000365727:T435M;ENSP00000365703:T536M;ENSP00000365720:T536M;ENSP00000365717:T141M;ENSP00000265284:T479M	ENSP00000265284:T479M	T	+	2	0	TLE4	81523627	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	ACG		0.602	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:130952718A>G	ENST00000393608.1	-	3	378	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000538431.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582																																						uc004btt.2																			0				ovary(2)|central_nervous_system(2)	4						c.(175-177)CTC>CCC		CDKN1A interacting zinc finger protein 1 isoform							25.0	24.0	25.0					9																	130952718		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130952718A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.176T>C	9.37:g.130952718A>G	ENSP00000377232:p.Leu59Pro					CIZ1_uc004btr.2_Missense_Mutation_p.L59P|CIZ1_uc004bts.2_Missense_Mutation_p.L59P|CIZ1_uc011maq.1_Missense_Mutation_p.L59P|CIZ1_uc004btu.2_Missense_Mutation_p.L59P|CIZ1_uc011mar.1_Intron|CIZ1_uc011mas.1_Missense_Mutation_p.L89P|CIZ1_uc004btw.2_Missense_Mutation_p.L59P|CIZ1_uc004btv.2_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	p.L59P	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			3	339	-			59					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.176T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300687	0.40694	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.31	4.31	0.51392	.	0.401761	0.18500	N	0.139371	D	0.82893	0.5136	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.976;0.999;0.999;0.998;0.943;0.999	D	0.83844	0.0259	10	0.87932	D	0	-23.1311	10.9807	0.47492	1.0:0.0:0.0:0.0	.	59;59;59;59;59;59;59;59	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	59;59;59;59;59;26;59;59;59;59;10;59;59	ENSP00000362045:L59P;ENSP00000377232:L59P;ENSP00000439244:L59P;ENSP00000350169:L59P;ENSP00000320374:L59P;ENSP00000277465:L59P;ENSP00000362039:L59P;ENSP00000362029:L59P;ENSP00000398011:L10P;ENSP00000321780:L59P;ENSP00000407265:L59P	ENSP00000277465:L59P	L	-	2	0	CIZ1	129992539	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	4.437000	0.59955	1.823000	0.53134	0.533000	0.62120	CTC		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
ABL1	25	broad.mit.edu	37	9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	ENST00000318560.5	+	7	1522	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAAGGTAGCTGATTTTGGCCT	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(1141-1143)GAT>TAT		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						167.0	145.0	153.0					9																	133750310		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750310G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1141G>T	9.37:g.133750310G>T	ENSP00000323315:p.Asp381Tyr					ABL1_uc004bzv.2_Missense_Mutation_p.D400Y	p.D381Y	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1144	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	381			Kinase activation loop.|Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1141G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902055	0.92035	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.88354	-2.37;-2.37	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.99859	4.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99727	1.1011	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	381;418	P00519;Q59FK4	ABL1_HUMAN;.	Y	196;400;381	ENSP00000361423:D400Y;ENSP00000323315:D381Y	ENSP00000323315:D381Y	D	+	1	0	ABL1	132740131	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GAT		0.537	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
LHX3	8022	broad.mit.edu	37	9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	ENST00000371748.5	-	3	389	c.293C>T	c.(292-294)cCg>cTg	p.P98L	LHX3_ENST00000371746.3_Missense_Mutation_p.P103L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	98	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716																																						uc004cha.2																			0				skin(1)	1						c.(292-294)CCG>CTG		LIM homeobox protein 3 isoform a							15.0	13.0	13.0					9																	139091685		2194	4288	6482	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091685G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.293C>T	9.37:g.139091685G>A	ENSP00000360813:p.Pro98Leu					LHX3_uc004cgz.2_Missense_Mutation_p.P103L	p.P98L	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	390	-		Myeloproliferative disorder(178;0.0511)	98			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.293C>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108438	0.94292	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.86694	-2.16;-2.16	4.19	4.19	0.49359	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	N	0.20574	0.59	0.80722	D	1	D;P	0.89917	1.0;0.757	D;B	0.83275	0.996;0.255	D	0.87876	0.2674	10	0.37606	T	0.19	.	15.6812	0.77371	0.0:0.0:1.0:0.0	.	98;103	Q9UBR4;F1T0D9	LHX3_HUMAN;.	L	98;103;101	ENSP00000360813:P98L;ENSP00000360811:P103L	ENSP00000319224:P101L	P	-	2	0	LHX3	138231506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.216000	0.95154	2.172000	0.68678	0.561000	0.74099	CCG		0.716	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
P2RY8	286530	broad.mit.edu	37	X	1584486	1584486	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	ENST00000381297.4	-	2	1176	c.966C>T	c.(964-966)cgC>cgT	p.R322R	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		0				lung(5)	5						c.(964-966)CGC>CGT		G-protein coupled purinergic receptor P2Y8							48.0	56.0	53.0					X																	1584486		2203	4295	6498	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584486G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.966C>T	X.37:g.1584486G>A							p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	1214	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	322			Cytoplasmic (Potential).			Silent	SNP	ENST00000381297.4	37	c.966C>T	CCDS14115.1																																																																																				0.672	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
FAM47A	158724	broad.mit.edu	37	X	34149408	34149408	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	ENST00000346193.3	-	1	1039	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637																																						uc004ddg.2																			0				ovary(4)|central_nervous_system(1)	5						c.(988-990)CCG>ACG		hypothetical protein LOC158724							18.0	21.0	20.0					X																	34149408		2181	4283	6464	SO:0001583	missense	158724							g.chrX:34149408G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.988C>A	X.37:g.34149408G>T	ENSP00000345029:p.Pro330Thr						p.P330T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1021	-			330					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.988C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	10.61	1.397730	0.25205	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	0.226	0.226	0.15353	.	.	.	.	.	T	0.38878	0.1057	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	8	0.52906	T	0.07	.	.	.	.	.	330	Q5JRC9	FA47A_HUMAN	T	330	ENSP00000345029:P330T	ENSP00000345029:P330T	P	-	1	0	FAM47A	34059329	0.400000	0.25295	0.007000	0.13788	0.007000	0.05969	-0.099000	0.11007	0.283000	0.22279	0.287000	0.19450	CCG		0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
L1CAM	3897	broad.mit.edu	37	X	153130626	153130626	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	ENST00000370060.1	-	22	2978	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_ENST00000361699.4_Missense_Mutation_p.S930L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S930L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S925L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S925L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S932L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S932L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	930	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTGTTCGACTGGCACTC	0.701																																						uc004fjb.2																			0				ovary(8)|central_nervous_system(1)	9						c.(2788-2790)TCG>TTG		L1 cell adhesion molecule isoform 1 precursor							27.0	25.0	26.0					X																	153130626		2197	4289	6486	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130626G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2789C>T	X.37:g.153130626G>A	ENSP00000359077:p.Ser930Leu					L1CAM_uc004fjc.2_Missense_Mutation_p.S930L|L1CAM_uc010nuo.2_Missense_Mutation_p.S925L	p.S930L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			21	2897	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		930			Extracellular (Potential).|Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2789C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780740	0.90195	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000114	T	0.73760	0.3628	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;P;D	0.70487	0.948;0.73;0.969	T	0.73043	-0.4107	10	0.32370	T	0.25	.	15.0765	0.72080	0.0:0.0:1.0:0.0	.	925;930;930	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	930;932;930;932;925;925;930	ENSP00000359077:S930L;ENSP00000438430:S932L;ENSP00000359074:S930L;ENSP00000439645:S932L;ENSP00000354712:S925L;ENSP00000359072:S925L;ENSP00000355380:S930L	ENSP00000355380:S930L	S	-	2	0	L1CAM	152783820	1.000000	0.71417	0.913000	0.36048	0.978000	0.69477	5.889000	0.69766	2.147000	0.66899	0.529000	0.55759	TCG		0.701	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
