#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
DNAJC16	23341	broad.mit.edu	37	1	15870967	15870967	+	Silent	SNP	C	C	T	rs535795316		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:15870967C>T	ENST00000375847.3	+	5	812	c.648C>T	c.(646-648)ccC>ccT	p.P216P	SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375849.1_Silent_p.P216P|DNAJC16_ENST00000375838.1_Silent_p.P216P	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	216	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGCACGCCCTCTATCCTAG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17585	0.0		0.0	False		,,,				2504	0.001					uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(646-648)CCC>CCT		DnaJ (Hsp40) homolog, subfamily C, member 16							130.0	114.0	119.0					1																	15870967		2203	4300	6503	SO:0001819	synonymous_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15870967C>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.648C>T	1.37:g.15870967C>T						DNAJC16_uc001awr.1_Silent_p.P216P|DNAJC16_uc001awt.2_5'UTR	p.P216P	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	5	768	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	216			Cytoplasmic (Potential).|Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	c.648C>T	CCDS30606.1																																																																																				0.478	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		33	24	0	0	0	0.013726	0	33	24		
C1orf64	149563	broad.mit.edu	37	1	16332663	16332663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:16332663C>T	ENST00000329454.2	+	2	400	c.332C>T	c.(331-333)cCg>cTg	p.P111L	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	111										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCCTGCCGCTCTGCAGA	0.647																																						uc001axn.2		NaN																	0				breast(2)	2						c.(331-333)CCG>CTG		hypothetical protein LOC149563							45.0	47.0	47.0					1																	16332663		2203	4300	6503	SO:0001583	missense	149563							g.chr1:16332663C>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.332C>T	1.37:g.16332663C>T	ENSP00000332162:p.Pro111Leu						p.P111L	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	400	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	111					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.332C>T	CCDS166.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130487	0.56828	.	.	ENSG00000183888	ENST00000329454	T	0.53206	0.63	4.77	2.66	0.31614	.	0.319692	0.23065	N	0.052340	T	0.51719	0.1691	L	0.32530	0.975	0.09310	N	0.999998	D	0.89917	1.0	D	0.72075	0.976	T	0.29912	-0.9996	10	0.87932	D	0	-4.109	7.2305	0.26040	0.1945:0.617:0.1885:0.0	.	111	Q8NEQ6	CA064_HUMAN	L	111	ENSP00000332162:P111L	ENSP00000332162:P111L	P	+	2	0	C1orf64	16205250	0.000000	0.05858	0.262000	0.24481	0.013000	0.08279	-0.231000	0.09069	1.101000	0.41535	0.467000	0.42956	CCG		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1		NM_178840		8	67	0	0	0	0.004482	0	8	67		
PLA2G2E	30814	broad.mit.edu	37	1	20246922	20246922	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:20246922G>A	ENST00000375116.3	-	4	364	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	103					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	CAGGTCAGCCGCTGGCAGGTG	0.592																																						uc001bct.1		NaN																	0					0						c.(307-309)CGG>TGG		phospholipase A2, group IIE precursor							59.0	54.0	56.0					1																	20246922		2203	4300	6503	SO:0001583	missense	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20246922G>A	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.307C>T	1.37:g.20246922G>A	ENSP00000364257:p.Arg103Trp						p.R103W	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	365	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	103					Q5VXJ8	Missense_Mutation	SNP	ENST00000375116.3	37	c.307C>T	CCDS200.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402118	0.42613	.	.	ENSG00000188784	ENST00000375116	T	0.28666	1.6	5.49	0.803	0.18691	Phospholipase A2 (3);	0.199627	0.33875	N	0.004461	T	0.38719	0.1051	M	0.86805	2.84	0.26254	N	0.978682	B	0.23490	0.086	B	0.24848	0.056	T	0.47849	-0.9085	10	0.87932	D	0	-9.8284	12.1953	0.54294	0.0:0.0:0.307:0.693	.	103	Q9NZK7	PA2GE_HUMAN	W	103	ENSP00000364257:R103W	ENSP00000364257:R103W	R	-	1	2	PLA2G2E	20119509	0.329000	0.24696	0.325000	0.25375	0.898000	0.52572	0.707000	0.25704	0.236000	0.21180	0.549000	0.68633	CGG		0.592	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1		NM_014589		11	57	0	0	0	0.013537	0	11	57		
ARID1A	8289	broad.mit.edu	37	1	27099361	27099361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:27099361C>T	ENST00000324856.7	+	14	3969	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q817*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1200*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1200					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCACATTCCAGAAGCGGAA	0.458			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3598-3600)CAG>TAG		AT rich interactive domain 1A isoform a							85.0	83.0	83.0					1																	27099361		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099361C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3598C>T	1.37:g.27099361C>T	ENSP00000320485:p.Gln1200*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1199*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1200*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q817*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q46*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.Q1200*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	3971	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1200					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3598C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.329957|9.329957	0.99138|0.99138	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.175601	.|0.52532	.|D	.|0.000073	T|.	0.73598|.	0.3607|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69658|.	-0.5086|.	4|.	.|0.34782	.|T	.|0.22	-6.5851|-6.5851	19.2435|19.2435	0.93893|0.93893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	96|1200;1200;817	.|.	.|ENSP00000320485:Q1200X	P|Q	+|+	2|1	0|0	ARID1A|ARID1A	26971948|26971948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.380000|5.380000	0.66202|0.66202	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.458	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		27	31	0	0	0	0.003954	0	27	31		
BAI2	576	broad.mit.edu	37	1	32205620	32205620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:32205620C>T	ENST00000373658.3	-	14	2415	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	BAI2_ENST00000398556.3_Missense_Mutation_p.V640M|BAI2_ENST00000373655.2_Missense_Mutation_p.V692M|BAI2_ENST00000398547.1_Missense_Mutation_p.V625M|BAI2_ENST00000398542.1_Missense_Mutation_p.V625M|BAI2_ENST00000527361.1_Missense_Mutation_p.V692M|BAI2_ENST00000398538.1_Missense_Mutation_p.V680M|BAI2_ENST00000440175.2_Missense_Mutation_p.V334M|BAI2_ENST00000257070.4_Missense_Mutation_p.V692M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	692					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGTGCACAGAGCCAGGG	0.587																																						uc001btn.2		NaN																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(2074-2076)GTG>ATG		brain-specific angiogenesis inhibitor 2							91.0	89.0	90.0					1																	32205620		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32205620C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2074G>A	1.37:g.32205620C>T	ENSP00000362762:p.Val692Met					BAI2_uc010ogo.1_Missense_Mutation_p.V334M|BAI2_uc010ogp.1_Missense_Mutation_p.V625M|BAI2_uc010ogq.1_Missense_Mutation_p.V692M|BAI2_uc001bto.2_Missense_Mutation_p.V692M|BAI2_uc001btq.1_Missense_Mutation_p.V625M|BAI2_uc010ogr.1_Missense_Mutation_p.C501Y	p.V692M	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	14	2428	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	692			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.2074G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563819	0.65651	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94	4.62	4.62	0.57501	Domain of unknown function DUF3497 (1);	0.194171	0.25561	N	0.029823	T	0.20414	0.0491	L	0.38175	1.15	0.32050	N	0.59707	D;D;D;D;D;D	0.67145	0.996;0.989;0.983;0.992;0.996;0.992	D;D;D;D;D;D	0.71414	0.973;0.947;0.924;0.969;0.973;0.969	T	0.03413	-1.1039	10	0.52906	T	0.07	.	10.3919	0.44175	0.0:0.9075:0.0:0.0925	.	692;680;334;625;692;692	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	M	640;625;692;692;625;692;692;334;680;630	ENSP00000381564:V640M;ENSP00000381555:V625M;ENSP00000362762:V692M;ENSP00000362759:V692M;ENSP00000381550:V625M;ENSP00000257070:V692M;ENSP00000435397:V692M;ENSP00000391071:V334M;ENSP00000381548:V680M;ENSP00000410921:V630M	ENSP00000257070:V692M	V	-	1	0	BAI2	31978207	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.282000	0.43461	2.301000	0.77427	0.456000	0.33151	GTG		0.587	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1		NM_001703		11	54	0	0	0	0.010729	0	11	54		
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:39340782G>C	ENST00000360786.3	-	1	1241	c.989C>G	c.(988-990)tCt>tGt	p.S330C	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.S330C|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313																																						uc001cct.1		NaN																	0					0						c.(988-990)TCT>TGT		gap junction protein, alpha 9, 59kDa							75.0	78.0	77.0					1																	39340782		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340782G>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.989C>G	1.37:g.39340782G>C	ENSP00000354020:p.Ser330Cys					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.S330C	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1270	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	330			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.989C>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735808	0.49045	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.98012	-4.66;-4.56;-4.56	4.02	3.1	0.35709	.	.	.	.	.	D	0.96324	0.8801	N	0.24115	0.695	0.23180	N	0.99816	D	0.69078	0.997	P	0.56865	0.808	D	0.91157	0.4958	9	0.62326	D	0.03	.	11.2015	0.48743	0.0943:0.0:0.9057:0.0	.	330	P57773	CXA9_HUMAN	C	330	ENSP00000406846:S330C;ENSP00000350415:S330C;ENSP00000354020:S330C	ENSP00000350415:S330C	S	-	2	0	GJA9	39113369	0.802000	0.28943	0.109000	0.21407	0.703000	0.40648	3.133000	0.50531	0.993000	0.38866	0.655000	0.94253	TCT		0.313	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1		NM_030772		5	77	0	0	0	0.000602	0	5	77		
PTPRF	5792	broad.mit.edu	37	1	44071029	44071029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:44071029C>T	ENST00000359947.4	+	18	3644	c.3304C>T	c.(3304-3306)Cac>Tac	p.H1102Y	PTPRF_ENST00000372413.3_Missense_Mutation_p.H1093Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.H1102Y|PTPRF_ENST00000438120.1_Missense_Mutation_p.H1093Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.H450Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1102					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCTCACAAGCCGCT	0.632																																						uc001cjr.2		NaN																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3304-3306)CAC>TAC		protein tyrosine phosphatase, receptor type, F							43.0	48.0	46.0					1																	44071029		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071029C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3304C>T	1.37:g.44071029C>T	ENSP00000353030:p.His1102Tyr					PTPRF_uc001cjs.2_Missense_Mutation_p.H1093Y|PTPRF_uc001cju.2_Missense_Mutation_p.H480Y|PTPRF_uc009vwt.2_Missense_Mutation_p.H662Y|PTPRF_uc001cjv.2_Missense_Mutation_p.H562Y|PTPRF_uc001cjw.2_Missense_Mutation_p.H328Y	p.H1102Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN			18	3644	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1102			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3304C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.093|7.093	0.572640|0.572640	0.13623|0.13623	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.55588|.	0.51;0.53;0.51;0.53;2.44;4.13|.	5.31|5.31	4.4|4.4	0.53042|0.53042	.|.	0.505885|.	0.14852|.	N|.	0.294638|.	T|T	0.18718|0.18718	0.0449|0.0449	N|N	0.08118|0.08118	0|0	0.22001|0.22001	N|N	0.999424|0.999424	B;B;P;P;B|.	0.42296|.	0.001;0.019;0.481;0.775;0.318|.	B;B;B;B;B|.	0.38327|.	0.007;0.034;0.216;0.271;0.087|.	T|T	0.18398|0.18398	-1.0338|-1.0338	10|5	0.02654|.	T|.	1|.	.|.	7.7141|7.7141	0.28694|0.28694	0.2658:0.6517:0.0:0.0825|0.2658:0.6517:0.0:0.0825	.|.	747;450;668;1093;1102|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	Y|L	1102;1093;1102;1093;450;163|474;515	ENSP00000353030:H1102Y;ENSP00000398822:H1093Y;ENSP00000361491:H1102Y;ENSP00000361490:H1093Y;ENSP00000387885:H450Y;ENSP00000361484:H163Y|.	ENSP00000353030:H1102Y|.	H|S	+|+	1|2	0|0	PTPRF|PTPRF	43843616|43843616	.|.	.|.	0.892000|0.892000	0.35008|0.35008	0.796000|0.796000	0.44982|0.44982	.|.	.|.	1.393000|1.393000	0.46605|0.46605	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1				10	43	0	0	0	0.008291	0	10	43		
LRRIQ3	127255	broad.mit.edu	37	1	74507499	74507499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:74507499C>A	ENST00000395089.1	-	6	1115	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E372D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	372										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTGTTTTTTCTCTCTCAATA	0.338																																						uc001dfy.3		NaN																	0				ovary(2)	2						c.(1114-1116)GAG>GAT		leucine-rich repeats and IQ motif containing 3							84.0	78.0	80.0					1																	74507499		1829	4091	5920	SO:0001583	missense	127255							g.chr1:74507499C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1116G>T	1.37:g.74507499C>A	ENSP00000378524:p.Glu372Asp					LRRIQ3_uc001dfz.3_RNA	p.E372D	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1308	-			372					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1116G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019687	0.35606	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.13196	2.61;2.61	5.62	2.5	0.30297	.	1.261290	0.05784	N	0.609093	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.29785	0.107	T	0.44236	-0.9341	10	0.72032	D	0.01	.	7.5723	0.27915	0.0:0.7156:0.0:0.2844	.	372	A6PVS8	LRIQ3_HUMAN	D	372	ENSP00000378524:E372D;ENSP00000346414:E372D	ENSP00000346414:E372D	E	-	3	2	LRRIQ3	74280087	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.015000	0.12634	0.312000	0.23038	0.650000	0.86243	GAG		0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		14	51	1	0	9.16793e-09	0.00499	1.04934e-08	14	51		
POGZ	23126	broad.mit.edu	37	1	151378506	151378506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:151378506C>T	ENST00000271715.2	-	19	3319	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	POGZ_ENST00000540984.1_Missense_Mutation_p.R364H|POGZ_ENST00000531094.1_Missense_Mutation_p.R940H|POGZ_ENST00000392723.1_Missense_Mutation_p.R949H|POGZ_ENST00000368863.2_Missense_Mutation_p.R907H|POGZ_ENST00000409503.1_Missense_Mutation_p.R993H|POGZ_ENST00000361398.3_Missense_Mutation_p.R949H|POGZ_ENST00000491586.1_Missense_Mutation_p.R958H	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1002					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGAATACGTCGCTGGGG	0.512																																						uc001eyd.1		NaN																	0				ovary(3)	3						c.(3004-3006)CGT>CAT		pogo transposable element with ZNF domain							70.0	68.0	69.0					1																	151378506		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151378506C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3005G>A	1.37:g.151378506C>T	ENSP00000271715:p.Arg1002His					POGZ_uc001eye.1_Missense_Mutation_p.R949H|POGZ_uc010pdb.1_Missense_Mutation_p.R993H|POGZ_uc001eyf.1_Missense_Mutation_p.R958H|POGZ_uc010pdc.1_Missense_Mutation_p.R940H|POGZ_uc009wmv.1_Missense_Mutation_p.R907H|POGZ_uc010pdd.1_Missense_Mutation_p.R493H	p.R1002H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	3311	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1002					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3005G>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533188	0.64972	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.24350	5.81;5.84;5.81;5.79;5.82;5.82;1.86;5.31	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.24431	0.0592	N	0.08118	0	0.47245	D	0.999367	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999;0.998	D;D;D;D;D;D	0.79784	0.976;0.952;0.993;0.993;0.989;0.976	T	0.37753	-0.9692	10	0.62326	D	0.03	-14.4238	18.547	0.91050	0.0:1.0:0.0:0.0	.	940;993;907;958;949;1002	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	H	949;1002;949;907;993;940;364;958	ENSP00000376484:R949H;ENSP00000271715:R1002H;ENSP00000354467:R949H;ENSP00000357856:R907H;ENSP00000386836:R993H;ENSP00000431259:R940H;ENSP00000443547:R364H;ENSP00000418408:R958H	ENSP00000271715:R1002H	R	-	2	0	POGZ	149645130	1.000000	0.71417	0.985000	0.45067	0.934000	0.57294	5.340000	0.65958	2.722000	0.93159	0.655000	0.94253	CGT		0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2		NM_207171		22	199	0	0	0	0.012319	0	22	199		
SPTA1	6708	broad.mit.edu	37	1	158596663	158596663	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158596663G>A	ENST00000368147.4	-	41	5979	c.5799C>T	c.(5797-5799)ttC>ttT	p.F1933F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1933					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTCCAGTTGAATTCCTGAA	0.458																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5797-5799)TTC>TTT		spectrin, alpha, erythrocytic 1							155.0	153.0	154.0					1																	158596663		1875	4114	5989	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596663G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5799C>T	1.37:g.158596663G>A							p.F1933F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	5998	-	all_hematologic(112;0.0378)		1933			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5799C>T	CCDS41423.1																																																																																				0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		27	136	0	0	0	0.010818	0	27	136		
SPTA1	6708	broad.mit.edu	37	1	158646079	158646079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158646079C>T	ENST00000368147.4	-	8	1144	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	322					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACATAACTCCTTCACCTTT	0.438																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(964-966)GAG>AAG		spectrin, alpha, erythrocytic 1							167.0	158.0	161.0					1																	158646079		1910	4133	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646079C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.964G>A	1.37:g.158646079C>T	ENSP00000357129:p.Glu322Lys						p.E322K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			8	1163	-	all_hematologic(112;0.0378)		322			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.964G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039937	0.75732	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.24	4.33	0.51752	.	0.000000	0.32640	N	0.005834	T	0.36220	0.0959	M	0.76574	2.34	0.37204	D	0.904535	P	0.39060	0.657	P	0.45232	0.474	T	0.39143	-0.9628	10	0.10377	T	0.69	.	12.7525	0.57316	0.0:0.9208:0.0:0.0792	.	322	P02549	SPTA1_HUMAN	K	322	ENSP00000357130:E322K;ENSP00000357129:E322K	ENSP00000357129:E322K	E	-	1	0	SPTA1	156912703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.916000	0.56416	1.435000	0.47434	0.655000	0.94253	GAG		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		19	122	0	0	0	0.010504	0	19	122		
DHX9	1660	broad.mit.edu	37	1	182841625	182841625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:182841625C>T	ENST00000367549.3	+	15	1821	c.1711C>T	c.(1711-1713)Caa>Taa	p.Q571*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	571					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTACCCAGTTCAAGGTAATAT	0.358																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	0				ovary(2)	2						c.(1711-1713)CAA>TAA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							176.0	150.0	158.0					1																	182841625		1829	4083	5912	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182841625C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1711C>T	1.37:g.182841625C>T	ENSP00000356520:p.Gln571*					DHX9_uc001gps.2_Nonsense_Mutation_p.Q357*	p.Q571*	NM_001357	NP_001348	Q08211	DHX9_HUMAN			15	1874	+			571					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.1711C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.885213	0.98542	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	571	.	ENSP00000356520:Q571X	Q	+	1	0	DHX9	181108248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.384000	0.66225	2.894000	0.99253	0.591000	0.81541	CAA		0.358	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		7	109	0	0	0	0.00308	0	7	109		
LHX9	56956	broad.mit.edu	37	1	197890578	197890578	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:197890578C>T	ENST00000367387.4	+	3	947	c.522C>T	c.(520-522)ttC>ttT	p.F174F	LHX9_ENST00000337020.2_Silent_p.F174F|LHX9_ENST00000561173.1_Silent_p.F180F|LHX9_ENST00000367390.3_Silent_p.F165F|LHX9_ENST00000367391.1_Silent_p.F165F	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	174	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCGACCATTTCGGCATGAAGG	0.612																																						uc001guk.1		NaN																	0				ovary(1)	1						c.(520-522)TTC>TTT		LIM homeobox 9 isoform 1							67.0	66.0	66.0					1																	197890578		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890578C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.522C>T	1.37:g.197890578C>T						LHX9_uc001gui.1_Silent_p.F165F|LHX9_uc001guj.1_Silent_p.F180F	p.F174F	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	959	+			174			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.522C>T	CCDS1393.1																																																																																				0.612	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2		NM_020204		12	45	0	0	0	0.001855	0	12	45		
PTPN14	5784	broad.mit.edu	37	1	214557839	214557839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:214557839C>G	ENST00000366956.5	-	13	1553	c.1359G>C	c.(1357-1359)aaG>aaC	p.K453N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	453					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGATCCCCCTCTTCATCTGGC	0.572																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NaN																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1357-1359)AAG>AAC		protein tyrosine phosphatase, non-receptor type							163.0	168.0	166.0					1																	214557839		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557839C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1359G>C	1.37:g.214557839C>G	ENSP00000355923:p.Lys453Asn					PTPN14_uc010pty.1_Missense_Mutation_p.K354N	p.K453N	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1630	-			453					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1359G>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	5.056	0.196064	0.09599	.	.	ENSG00000152104	ENST00000366956	T	0.67865	-0.29	5.35	3.49	0.39957	.	0.181438	0.50627	D	0.000117	T	0.41328	0.1154	N	0.10916	0.065	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.10706	-1.0618	10	0.19590	T	0.45	.	7.1241	0.25461	0.0:0.709:0.141:0.15	.	453	Q15678	PTN14_HUMAN	N	453	ENSP00000355923:K453N	ENSP00000355923:K453N	K	-	3	2	PTPN14	212624462	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	2.038000	0.41184	0.647000	0.30713	-0.136000	0.14681	AAG		0.572	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2		NM_005401		45	171	0	0	0	0.010771	0	45	171		
TRIM11	81559	broad.mit.edu	37	1	228589812	228589812	+	Silent	SNP	C	C	T	rs148386528		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:228589812C>T	ENST00000284551.6	-	2	737	c.459G>A	c.(457-459)gcG>gcA	p.A153A	TRIM11_ENST00000366699.3_Silent_p.A153A|TRIM11_ENST00000460651.1_5'Flank|TRIM11_ENST00000493030.2_Silent_p.A28A	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	153					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GGAACAGCAACGCATCCTGCA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19246	0.0		0.0	False		,,,				2504	0.0					uc001hss.2		NaN																	0				lung(3)|ovary(1)	4						c.(457-459)GCG>GCA		tripartite motif-containing 11		C		0,4406		0,0,2203	87.0	76.0	80.0		459	-9.1	0.0	1	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRIM11	NM_145214.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		153/469	228589812	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228589812C>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.459G>A	1.37:g.228589812C>T						TRIM11_uc010pvx.1_Silent_p.A153A|TRIM11_uc001hst.1_Silent_p.A153A	p.A153A	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			2	714	-		Prostate(94;0.0724)	153			Potential.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	c.459G>A	CCDS31048.1																																																																																				0.627	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3		NM_145214		4	26	0	0	0	0.009096	0	4	26		
RYR2	6262	broad.mit.edu	37	1	237729962	237729962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237729962G>T	ENST00000366574.2	+	28	3627	c.3310G>T	c.(3310-3312)Gaa>Taa	p.E1104*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1088*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1102*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1104	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGTATTTTGAATTTGAGAC	0.567																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3310-3312)GAA>TAA		cardiac muscle ryanodine receptor							160.0	161.0	160.0					1																	237729962		1991	4163	6154	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729962G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3310G>T	1.37:g.237729962G>T	ENSP00000355533:p.Glu1104*						p.E1104*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3430	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1104			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.3310G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	43	10.184779	0.99354	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1954	0.93686	0.0:0.0:1.0:0.0	.	.	.	.	X	1104;1102;1088	.	ENSP00000353174:E1102X	E	+	1	0	RYR2	235796585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.935000	0.87658	2.536000	0.85505	0.655000	0.94253	GAA		0.567	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		26	124	1	0	8.24728e-16	0.004656	9.85524e-16	26	124		
RYR2	6262	broad.mit.edu	37	1	237765404	237765404	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237765404G>C	ENST00000366574.2	+	35	4993	c.4676G>C	c.(4675-4677)aGa>aCa	p.R1559T	RYR2_ENST00000542537.1_Missense_Mutation_p.R1543T|RYR2_ENST00000360064.6_Missense_Mutation_p.R1557T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1559	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTGGGAAGAATAAAGGTA	0.303																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4675-4677)AGA>ACA		cardiac muscle ryanodine receptor							57.0	55.0	56.0					1																	237765404		1790	4068	5858	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237765404G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4676G>C	1.37:g.237765404G>C	ENSP00000355533:p.Arg1559Thr						p.R1559T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		35	4796	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1559			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4676G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014688	0.75161	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69175	-0.38;-0.38;-0.38	5.49	5.49	0.81192	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	T	0.72104	0.3419	L	0.55213	1.73	0.80722	D	1	D	0.57257	0.979	P	0.54759	0.76	T	0.74743	-0.3562	10	0.72032	D	0.01	.	12.6886	0.56962	0.0755:0.0:0.9245:0.0	.	1559	Q92736	RYR2_HUMAN	T	1559;1557;1543	ENSP00000355533:R1559T;ENSP00000353174:R1557T;ENSP00000443798:R1543T	ENSP00000353174:R1557T	R	+	2	0	RYR2	235832027	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.577000	0.53885	2.588000	0.87417	0.491000	0.48974	AGA		0.303	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		5	35	0	0	0	0.000602	0	5	35		
ZNF672	79894	broad.mit.edu	37	1	249142538	249142538	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:249142538C>T	ENST00000306562.3	+	4	1811	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAATCTCAACGTGCATCGGC	0.647																																						uc001iex.2		NaN																	0					0						c.(1063-1065)AAC>AAT		zinc finger protein 672							43.0	41.0	41.0					1																	249142538		2202	4300	6502	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142538C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1065C>T	1.37:g.249142538C>T							p.N355N	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1760	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	355			C2H2-type 12.		Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.1065C>T	CCDS1638.1																																																																																				0.647	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2		NM_024836		4	22	0	0	0	0.009096	0	4	22		
FAM171A1	221061	broad.mit.edu	37	10	15325934	15325934	+	Missense_Mutation	SNP	C	C	T	rs191343270		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:15325934C>T	ENST00000378116.4	-	2	274	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	90						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCTTCGAGGCGGTGACAATC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		15746	0.0		0.001	False		,,,				2504	0.0					uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(268-270)GCC>ACC		hypothetical protein LOC221061 precursor		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	112.0	93.0	99.0		268	4.2	1.0	10		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM171A1	NM_001010924.1	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	90/891	15325934	2,13004	2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15325934C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.268G>A	10.37:g.15325934C>T	ENSP00000367356:p.Ala90Thr						p.A90T	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	275	-			90			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.268G>A	CCDS31154.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.47	3.632076	0.67015	2.27E-4	1.16E-4	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.55588	0.51;0.51	5.07	4.16	0.48862	.	0.051254	0.85682	N	0.000000	T	0.54775	0.1879	M	0.78637	2.42	0.80722	D	1	B	0.27166	0.17	B	0.25140	0.058	T	0.59857	-0.7375	10	0.87932	D	0	-22.8038	13.5763	0.61877	0.0:0.9245:0.0:0.0755	.	90	Q5VUB5	F1711_HUMAN	T	90;90;91;90	ENSP00000367356:A90T;ENSP00000407796:A90T	ENSP00000367354:A90T	A	-	1	0	FAM171A1	15365940	1.000000	0.71417	0.986000	0.45419	0.791000	0.44710	5.712000	0.68407	1.264000	0.44198	0.591000	0.81541	GCC		0.542	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		12	181	0	0	0	0.010729	0	12	181		
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502																																						uc001ipo.2		NaN																	0				ovary(1)|breast(1)	2						c.(22-24)TCA>TTA		solute carrier family 39 (zinc transporter),							119.0	120.0	120.0					10																	18242228		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242228C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.23C>T	10.37:g.18242228C>T	ENSP00000366586:p.Ser8Leu					SLC39A12_uc001ipn.2_Missense_Mutation_p.S8L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S8L|SLC39A12_uc010qck.1_Intron	p.S8L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			2	296	+			8			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.23C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741461	0.15642	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.22134	1.97;1.97;1.97	5.57	1.14	0.20703	.	1.316580	0.04913	N	0.453598	T	0.18593	0.0446	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.31752	-0.9932	10	0.16420	T	0.52	-0.8956	8.7861	0.34821	0.0:0.5279:0.3455:0.1265	.	8;8;8	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	8	ENSP00000366586:S8L;ENSP00000366591:S8L;ENSP00000366588:S8L	ENSP00000366586:S8L	S	+	2	0	SLC39A12	18282234	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.147000	0.10234	0.650000	0.30769	0.655000	0.94253	TCA		0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725		11	200	0	0	0	0.008291	0	11	200		
RRP12	23223	broad.mit.edu	37	10	99148350	99148350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:99148350G>A	ENST00000370992.4	-	7	896	c.785C>T	c.(784-786)tCa>tTa	p.S262L	RRP12_ENST00000536831.1_Intron|RRP12_ENST00000414986.1_Missense_Mutation_p.S201L|RRP12_ENST00000315563.6_Missense_Mutation_p.S162L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	262						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGAGGACTGAGCATACTCC	0.552																																						uc001knf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(784-786)TCA>TTA		ribosomal RNA processing 12 homolog isoform 1							73.0	64.0	67.0					10																	99148350		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99148350G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.785C>T	10.37:g.99148350G>A	ENSP00000360031:p.Ser262Leu					RRP12_uc009xvm.2_Intron|RRP12_uc010qou.1_Missense_Mutation_p.S201L|RRP12_uc009xvn.2_Missense_Mutation_p.S162L	p.S262L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	7	924	-		Colorectal(252;0.162)	262					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.785C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886646	0.72410	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.65916	-0.18;-0.18;-0.18	5.39	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.292038	0.38720	N	0.001600	T	0.50326	0.1609	L	0.48642	1.525	0.80722	D	1	B;B;B	0.34290	0.256;0.447;0.011	B;B;B	0.29077	0.076;0.098;0.019	T	0.40040	-0.9584	10	0.30078	T	0.28	-0.0516	11.3037	0.49323	0.1395:0.0:0.8605:0.0	.	201;162;262	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	L	262;162;201	ENSP00000360031:S262L;ENSP00000324315:S162L;ENSP00000414863:S201L	ENSP00000324315:S162L	S	-	2	0	RRP12	99138340	1.000000	0.71417	0.208000	0.23602	0.993000	0.82548	6.193000	0.72075	0.595000	0.29777	0.561000	0.74099	TCA		0.552	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		8	41	0	0	0	0.00308	0	8	41		
SFXN2	118980	broad.mit.edu	37	10	104491933	104491933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:104491933C>T	ENST00000369893.5	+	8	846	c.679C>T	c.(679-681)Caa>Taa	p.Q227*		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	227					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCATCACCCAAGTAGTTAT	0.532																																						uc001kwb.2		NaN																	0					0						c.(679-681)CAA>TAA		sideroflexin 2							142.0	130.0	134.0					10																	104491933		2203	4300	6503	SO:0001587	stop_gained	118980				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr10:104491933C>T	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.679C>T	10.37:g.104491933C>T	ENSP00000358909:p.Gln227*					SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	p.Q227*	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	845	+		Colorectal(252;0.207)	227					Q5JSM6	Nonsense_Mutation	SNP	ENST00000369893.5	37	c.679C>T	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	C	37	6.298547	0.97453	.	.	ENSG00000156398	ENST00000369893	.	.	.	5.94	4.03	0.46877	.	0.095703	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-7.4554	15.6883	0.77430	0.0:0.7439:0.2561:0.0	.	.	.	.	X	227	.	ENSP00000358909:Q227X	Q	+	1	0	SFXN2	104481923	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.775000	0.68915	0.807000	0.34208	0.561000	0.74099	CAA		0.532	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2		XM_058359		37	71	0	0	0	0.004878	0	37	71		
ITPRIP	85450	broad.mit.edu	37	10	106075629	106075629	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:106075629G>T	ENST00000337478.1	-	2	352	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.R61R|ITPRIP_ENST00000358187.2_Silent_p.R61R	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	61						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCGCCAGCCGAGCCACCTCC	0.662																																						uc001kye.2		NaN																	0					0						c.(181-183)CGG>AGG		inositol 1,4,5-triphosphate receptor interacting							67.0	66.0	66.0					10																	106075629		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075629G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.181C>A	10.37:g.106075629G>T						ITPRIP_uc001kyf.2_Silent_p.R61R|ITPRIP_uc001kyg.2_Silent_p.R61R	p.R61R	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	254	-			61			Potential.		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.181C>A	CCDS7557.1																																																																																				0.662	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1		NM_033397		20	88	1	0	1.40151e-16	0.010504	1.68536e-16	20	88		
ADD3	120	broad.mit.edu	37	10	111893106	111893106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:111893106G>C	ENST00000356080.4	+	15	2218	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	ADD3_ENST00000360162.3_Missense_Mutation_p.K585N|ADD3_ENST00000277900.8_Missense_Mutation_p.K585N	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	617						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGTTTTCCAAGAGCTTCATCT	0.393																																						uc001kyt.3		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(1849-1851)AAG>AAC		adducin 3 (gamma) isoform a							130.0	125.0	126.0					10																	111893106		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893106G>C	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1851G>C	10.37:g.111893106G>C	ENSP00000348381:p.Lys617Asn					ADD3_uc001kys.3_Missense_Mutation_p.K585N|ADD3_uc001kyu.2_Missense_Mutation_p.K617N|ADD3_uc001kyv.2_Missense_Mutation_p.K617N|ADD3_uc001kyw.2_Missense_Mutation_p.K585N|ADD3_uc001kyx.2_Missense_Mutation_p.K190N	p.K617N	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	16	2165	+		Breast(234;0.052)|Lung NSC(174;0.223)	617					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.1851G>C	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273025	0.40194	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.47869	0.83;0.83;0.83	5.71	5.71	0.89125	.	0.376195	0.29438	N	0.012147	T	0.37019	0.0988	L	0.42245	1.32	0.37420	D	0.913612	B;B	0.33413	0.411;0.006	B;B	0.30105	0.111;0.007	T	0.33343	-0.9872	10	0.28530	T	0.3	-18.9202	10.623	0.45491	0.0733:0.144:0.7827:0.0	.	617;585	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	N	585;617;585	ENSP00000353286:K585N;ENSP00000348381:K617N;ENSP00000277900:K585N	ENSP00000277900:K585N	K	+	3	2	ADD3	111883096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.000000	0.57039	2.861000	0.98227	0.650000	0.86243	AAG		0.393	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1		NM_019903		14	90	0	0	0	0.00245	0	14	90		
FGFR2	2263	broad.mit.edu	37	10	123353267	123353267	+	Missense_Mutation	SNP	C	C	T	rs189010277		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:123353267C>T	ENST00000358487.5	-	2	337	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	FGFR2_ENST00000351936.6_Missense_Mutation_p.R22Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R22Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R22Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R22Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R22Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R22Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	22					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GAAGGAGGGCCGGGCCAGGGA	0.502		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		20117	0.0		0.0	False		,,,				2504	0.0					uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(64-66)CGG>CAG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						130.0	111.0	118.0					10																	123353267		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123353267C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.65G>A	10.37:g.123353267C>T	ENSP00000351276:p.Arg22Gln					FGFR2_uc010qtg.1_Missense_Mutation_p.R22Q|FGFR2_uc010qth.1_Missense_Mutation_p.R22Q|FGFR2_uc010qti.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtj.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtl.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtm.1_Missense_Mutation_p.R22Q|FGFR2_uc001lfl.3_Missense_Mutation_p.R22Q|FGFR2_uc001lfm.2_Missense_Mutation_p.R22Q|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.R41Q|FGFR2_uc010qto.1_Missense_Mutation_p.R41Q|FGFR2_uc001lfo.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtp.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtq.1_Missense_Mutation_p.R41Q	p.R22Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	2	712	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	22			Extracellular (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.65G>A	CCDS31298.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.0	4.224367	0.79576	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	D;T;T;T;T;T;T;T;T;T;T;T;D;T	0.83250	-1.7;-1.35;-1.24;-1.18;-1.34;-1.17;-1.25;-1.26;-1.25;-1.48;-1.24;-1.24;-1.65;-0.69	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.84215	0.5423	N	0.24115	0.695	0.49213	D	0.999769	D;P;D;D;P;D;D;D;P;D;P;P	0.89917	0.999;0.663;1.0;0.962;0.693;0.985;0.962;0.969;0.915;0.982;0.933;0.803	P;B;P;P;B;P;B;P;B;P;P;B	0.60541	0.83;0.081;0.876;0.449;0.251;0.835;0.423;0.535;0.394;0.552;0.529;0.254	D	0.86541	0.1828	10	0.72032	D	0.01	.	17.3429	0.87301	0.0:1.0:0.0:0.0	.	41;41;22;22;41;22;22;22;22;41;22;22	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	Q	22	ENSP00000350166:R22Q;ENSP00000358057:R22Q;ENSP00000351276:R22Q;ENSP00000348559:R22Q;ENSP00000358056:R22Q;ENSP00000358055:R22Q;ENSP00000263451:R22Q;ENSP00000410294:R22Q;ENSP00000309878:R22Q;ENSP00000353262:R22Q;ENSP00000358052:R22Q;ENSP00000358054:R22Q;ENSP00000337665:R22Q;ENSP00000352309:R22Q	ENSP00000337665:R22Q	R	-	2	0	FGFR2	123343257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.344000	0.65981	2.523000	0.85059	0.650000	0.86243	CGG		0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141		21	45	0	0	0	0.00278	0	21	45		
VPS51	738	broad.mit.edu	37	11	64875072	64875072	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:64875072G>A	ENST00000279281.3	+	3	470	c.378G>A	c.(376-378)aaG>aaA	p.K126K	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	126					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GGAAGATGAAGAACGATTTCC	0.622																																						uc001ocr.1		NaN																	0					0						c.(376-378)AAG>AAA		chromosome 11 open reading frame 2							68.0	56.0	60.0					11																	64875072		2201	4297	6498	SO:0001819	synonymous_variant	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64875072G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.378G>A	11.37:g.64875072G>A						C11orf2_uc001ocs.1_Silent_p.K2K	p.K126K	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			3	418	+			126			Potential.		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.378G>A	CCDS8093.1																																																																																				0.622	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1		NM_013265		13	45	0	0	0	0.001855	0	13	45		
PELI3	246330	broad.mit.edu	37	11	66241241	66241241	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66241241C>T	ENST00000320740.7	+	7	845	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	PELI3_ENST00000524466.1_Silent_p.L229L|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.L205L	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	229					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CCCAGATGGCCTGATGGATGG	0.657																																						uc001oic.3		NaN																	0				ovary(1)	1						c.(685-687)CTG>TTG		pellino 3 alpha isoform 1							59.0	59.0	59.0					11																	66241241		2200	4295	6495	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66241241C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.685C>T	11.37:g.66241241C>T						PELI3_uc001oib.2_Silent_p.L229L|PELI3_uc001oid.3_Silent_p.L205L|PELI3_uc001oie.3_Silent_p.L80L|PELI3_uc010rpd.1_Silent_p.L70L	p.L229L	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			7	849	+			229					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.685C>T	CCDS31615.1																																																																																				0.657	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1		NM_145065		3	69	0	0	0	0.004672	0	3	69		
CTSF	8722	broad.mit.edu	37	11	66330384	66330384	+	IGR	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66330384G>C	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGACACGACTGAGCAAGTTGT	0.602																																						uc001oio.1		NaN																	0					0						c.(2506-2508)GAG>CAG		actinin, alpha 3							85.0	96.0	92.0					11																	66330384		2196	4295	6491	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330384G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330384G>C						ACTN3_uc010rpi.1_RNA	p.E836Q	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			21	2524	+			836					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2506G>C	CCDS8144.1																																																																																				0.602	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1		NM_003793		8	109	0	0	0	0.00308	0	8	109		
ARHGAP20	57569	broad.mit.edu	37	11	110486316	110486316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:110486316G>A	ENST00000260283.4	-	6	790	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S146F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S143F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S143F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	169	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTGTTCTGGAGAACTGCAATC	0.299																																						uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(505-507)TCT>TTT		Rho GTPase activating protein 20							42.0	46.0	45.0					11																	110486316		2200	4293	6493	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110486316G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.506C>T	11.37:g.110486316G>A	ENSP00000260283:p.Ser169Phe					ARHGAP20_uc001pky.1_Missense_Mutation_p.S146F|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S133F|ARHGAP20_uc001pla.1_Missense_Mutation_p.S133F	p.S169F	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	6	791	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	169			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.506C>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347150	0.61183	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.34	3.43	0.39272	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.160045	0.64402	D	0.000018	T	0.60932	0.2307	M	0.76170	2.325	0.35990	D	0.836637	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.70389	-0.4885	10	0.87932	D	0	.	10.1861	0.42998	0.075:0.1371:0.788:0.0	.	169;146	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	F	169;143;146;133;143;133	ENSP00000260283:S169F;ENSP00000349660:S143F;ENSP00000432076:S146F;ENSP00000436319:S133F;ENSP00000436522:S143F;ENSP00000431399:S133F	ENSP00000260283:S169F	S	-	2	0	ARHGAP20	109991526	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.761000	0.62243	0.905000	0.36596	0.650000	0.86243	TCT		0.299	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		9	66	0	0	0	0.008291	0	9	66		
TMPRSS13	84000	broad.mit.edu	37	11	117789394	117789394	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:117789394G>A	ENST00000430170.2	-	2	268	c.181C>T	c.(181-183)Cca>Tca	p.P61S	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P61S|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.P61S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P61S|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P61S	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	61	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTACCAGCTGGAGATGCCTGG	0.697																																						uc001prs.1		NaN																	0				pancreas(1)	1						c.(181-183)CCA>TCA		transmembrane protease, serine 13							43.0	50.0	48.0					11																	117789394		1885	4092	5977	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789394G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.181C>T	11.37:g.117789394G>A	ENSP00000387702:p.Pro61Ser					TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.P61S	p.P61S	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	274	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	61			4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.181C>T	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498472	0.26861	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.92647	-3.08;-2.81;-2.74;-2.77;-2.81	1.32	-0.778	0.10977	.	0.410909	0.17979	N	0.155612	T	0.81819	0.4903	L	0.29908	0.895	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.20184	0.028;0.008	T	0.65348	-0.6190	10	0.21014	T	0.42	.	2.6299	0.04941	0.407:0.2667:0.3263:0.0	.	56;61	Q9BYE2-4;E9PRA0	.;.	S	61	ENSP00000435813:P61S;ENSP00000434279:P61S;ENSP00000387702:P61S;ENSP00000394114:P61S;ENSP00000436502:P61S	ENSP00000337113:P61S	P	-	1	0	TMPRSS13	117294604	0.006000	0.16342	0.001000	0.08648	0.025000	0.11179	0.606000	0.24194	-0.258000	0.09446	0.205000	0.17691	CCA		0.697	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1		NM_032046		7	86	0	0	0	0.00308	0	7	86		
LRP1	4035	broad.mit.edu	37	12	57597024	57597024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:57597024G>T	ENST00000243077.3	+	69	11238	c.10772G>T	c.(10771-10773)cGc>cTc	p.R3591L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3591	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGCGGGGCGCTGGAAATGC	0.672																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10771-10773)CGC>CTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						37.0	35.0	35.0					12																	57597024		2199	4298	6497	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57597024G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10772G>T	12.37:g.57597024G>T	ENSP00000243077:p.Arg3591Leu						p.R3591L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	69	11238	+			3591			LDL-receptor class A 27.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10772G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902828	0.72754	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.95103	-3.61;-3.61	5.06	5.06	0.68205	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.151987	0.40385	N	0.001116	D	0.95326	0.8483	L	0.38838	1.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93799	0.7099	10	0.27082	T	0.32	.	17.4363	0.87553	0.0:0.0:1.0:0.0	.	3591	Q07954	LRP1_HUMAN	L	3591;172	ENSP00000243077:R3591L;ENSP00000451012:R172L	ENSP00000243077:R3591L	R	+	2	0	LRP1	55883291	0.996000	0.38824	1.000000	0.80357	0.414000	0.31173	6.464000	0.73534	2.639000	0.89480	0.650000	0.86243	CGC		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		6	30	1	0	0.00116845	0.001168	0.00126139	6	30		
CPM	1368	broad.mit.edu	37	12	69265567	69265567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:69265567C>T	ENST00000551568.1	-	4	488	c.428G>A	c.(427-429)gGa>gAa	p.G143E	CPM_ENST00000338356.3_Missense_Mutation_p.G143E|CPM_ENST00000546373.1_Missense_Mutation_p.G143E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	143					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTTTACCTTCCGATGCTGTA	0.463																																						uc001sup.2		NaN																	0					0						c.(427-429)GGA>GAA		carboxypeptidase M precursor							141.0	130.0	134.0					12																	69265567		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69265567C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.428G>A	12.37:g.69265567C>T	ENSP00000448517:p.Gly143Glu					CPM_uc001sur.2_Missense_Mutation_p.G143E|CPM_uc001suq.2_Missense_Mutation_p.G143E	p.G143E	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	489	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		143					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.428G>A	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.339036	0.97485	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.03	5.03	0.67393	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67991	-0.5527	9	.	.	.	.	19.267	0.93990	0.0:1.0:0.0:0.0	.	143	P14384	CBPM_HUMAN	E	143	ENSP00000448517:G143E;ENSP00000339157:G143E;ENSP00000447255:G143E;ENSP00000446799:G143E	.	G	-	2	0	CPM	67551834	1.000000	0.71417	0.865000	0.33974	0.879000	0.50718	7.194000	0.77789	2.718000	0.92993	0.650000	0.86243	GGA		0.463	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1		NM_198320		19	100	0	0	0	0.010504	0	19	100		
KITLG	4254	broad.mit.edu	37	12	88912549	88912550	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:88912549_88912550AC>GA	ENST00000228280.5	-	4	469_470	c.287_288GT>TC	c.(286-288)aGT>aTC	p.S96I	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Missense_Mutation_p.S96I|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	96					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TGGAATAATTACTCAAGCCTTC	0.376									Testicular Cancer, Familial Clustering of																													uc001tav.2		NaN																	0				ovary(1)	1						c.(286-288)AGT>ATC		KIT ligand isoform b precursor																																				SO:0001583	missense	4254	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88912549_88912550AC>GA	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.287_288delinsGA	12.37:g.88912549_88912550delinsGA	ENSP00000228280:p.Ser96Ile					KITLG_uc009zsn.2_Missense_Mutation_p.S24I|KITLG_uc001taw.2_Missense_Mutation_p.S96I|KITLG_uc009zso.1_Intron	p.S96I	NM_000899	NP_000890	P21583	SCF_HUMAN			4	470_471	-			96			Extracellular (Potential).		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	DNP	ENST00000228280.5	37	c.287_288GT>TC	CCDS31868.1																																																																																				0.376	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2		NM_003994		15	34	0	0	0	0.004672	0	15	34		
SCYL2	55681	broad.mit.edu	37	12	100731227	100731227	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:100731227G>A	ENST00000360820.2	+	17	2525	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	696					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CACAGAAGCTGAAAAGCCAGC	0.378																																						uc001thn.2		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(2086-2088)CTG>CTA		SCY1-like 2 protein							125.0	125.0	125.0					12																	100731227		2203	4300	6503	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100731227G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2088G>A	12.37:g.100731227G>A						SCYL2_uc001thm.1_Silent_p.L696L	p.L696L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			17	2138	+			696			Potential.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.2088G>A	CCDS9076.1																																																																																				0.378	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2		NM_017988		7	69	0	0	0	0.001984	0	7	69		
NCOR2	9612	broad.mit.edu	37	12	124821373	124821373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:124821373G>A	ENST00000405201.1	-	38	6041	c.6041C>T	c.(6040-6042)tCg>tTg	p.S2014L	NCOR2_ENST00000356219.3_Missense_Mutation_p.S2021L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1575L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S2005L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S2004L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S2004L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2025					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCCGAGGCCGAGGCAGGTGG	0.652																																						uc010tay.1		NaN																	0				skin(3)|ovary(1)	4						c.(6070-6072)TCG>TTG		nuclear receptor co-repressor 2 isoform 1							37.0	44.0	42.0					12																	124821373		1976	4140	6116	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124821373G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6041C>T	12.37:g.124821373G>A	ENSP00000384018:p.Ser2014Leu					NCOR2_uc010taz.1_Missense_Mutation_p.S2008L|NCOR2_uc010tax.1_Missense_Mutation_p.S135L	p.S2024L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	40	6227	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2025					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6071C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	g	12.34	1.909207	0.33721	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.19105	2.17;2.44;2.18;2.44;2.18;2.44	4.5	3.54	0.40534	.	0.748718	0.12560	N	0.458298	T	0.20981	0.0505	N	0.24115	0.695	0.27039	N	0.964068	D;D;D	0.63880	0.984;0.993;0.987	P;P;B	0.48840	0.493;0.592;0.388	T	0.07966	-1.0745	10	0.44086	T	0.13	-9.9789	13.848	0.63479	0.0:0.154:0.8459:0.0	.	2005;2014;2025	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	L	2014;2004;2021;2005;2013;1575;106;2004	ENSP00000384018:S2014L;ENSP00000384202:S2004L;ENSP00000348551:S2021L;ENSP00000380513:S2005L;ENSP00000385618:S1575L;ENSP00000400281:S2004L	ENSP00000348551:S2021L	S	-	2	0	NCOR2	123387326	0.997000	0.39634	0.712000	0.30502	0.131000	0.20780	3.242000	0.51384	2.041000	0.60428	0.556000	0.70494	TCG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		9	68	0	0	0	0.006214	0	9	68		
AKAP11	11215	broad.mit.edu	37	13	42882729	42882729	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:42882729C>T	ENST00000025301.2	+	9	5432	c.5257C>T	c.(5257-5259)Cat>Tat	p.H1753Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1753	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGTTTTCATCATCTAAG	0.353																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5257-5259)CAT>TAT		A-kinase anchor protein 11							98.0	89.0	92.0					13																	42882729		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42882729C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5257C>T	13.37:g.42882729C>T	ENSP00000025301:p.His1753Tyr						p.H1753Y	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	9	5432	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1753			Ser-rich.		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.5257C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737605	0.89573	.	.	ENSG00000023516	ENST00000025301	T	0.14391	2.51	5.44	5.44	0.79542	.	0.062950	0.64402	D	0.000005	T	0.28599	0.0708	M	0.65975	2.015	0.47094	D	0.999315	D	0.65815	0.995	P	0.58266	0.836	T	0.08006	-1.0743	10	0.02654	T	1	.	19.623	0.95667	0.0:1.0:0.0:0.0	.	1753	Q9UKA4	AKA11_HUMAN	Y	1753	ENSP00000025301:H1753Y	ENSP00000025301:H1753Y	H	+	1	0	AKAP11	41780729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.369000	0.79578	2.708000	0.92522	0.650000	0.86243	CAT		0.353	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		10	60	0	0	0	0.008291	0	10	60		
PIBF1	10464	broad.mit.edu	37	13	73539485	73539485	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:73539485G>C	ENST00000326291.6	+	15	2245	c.1907G>C	c.(1906-1908)aGa>aCa	p.R636T		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	636						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTGCGTCAGAGAGATTCTAAG	0.353																																						uc001vjc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1906-1908)AGA>ACA		progesterone-induced blocking factor 1							74.0	70.0	72.0					13																	73539485		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73539485G>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1907G>C	13.37:g.73539485G>C	ENSP00000317144:p.Arg636Thr					PIBF1_uc001vjb.2_Missense_Mutation_p.R636T|PIBF1_uc010aep.2_Missense_Mutation_p.R95T	p.R636T	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	15	2212	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	636					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1907G>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235115	0.79800	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.25749	1.78	4.97	4.97	0.65823	.	0.103501	0.64402	D	0.000002	T	0.48295	0.1492	M	0.65498	2.005	0.58432	D	0.999991	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.27191	-1.0081	10	0.20519	T	0.43	-17.0647	18.0076	0.89214	0.0:0.0:1.0:0.0	.	636;636	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	T	636;95	ENSP00000317144:R636T	ENSP00000317144:R636T	R	+	2	0	PIBF1	72437486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.048000	0.57390	2.574000	0.86865	0.591000	0.81541	AGA		0.353	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1		NM_006346		9	95	0	0	0	0.006214	0	9	95		
RBM26	64062	broad.mit.edu	37	13	79945293	79945293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:79945293G>A	ENST00000438737.2	-	5	861	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	RBM26_ENST00000267229.7_Missense_Mutation_p.R141C|RBM26_ENST00000438724.1_Missense_Mutation_p.R141C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	141	Arg-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCTCATCACGGCTTCTAAAG	0.338																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(421-423)CGT>TGT		RNA binding motif protein 26							59.0	58.0	58.0					13																	79945293		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79945293G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.421C>T	13.37:g.79945293G>A	ENSP00000387531:p.Arg141Cys					RBM26_uc001vky.2_Missense_Mutation_p.R141C|RBM26_uc001vla.2_Missense_Mutation_p.R141C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	p.R141C	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	5	435	-		Acute lymphoblastic leukemia(28;0.0279)	141			Arg-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.421C>T		.	.	.	.	.	.	.	.	.	.	G	15.14	2.746062	0.49151	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.05717	3.4;3.4	4.98	4.98	0.66077	.	0.058003	0.64402	D	0.000002	T	0.11879	0.0289	L	0.50333	1.59	0.53005	D	0.999967	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.51866	0.682;0.483;0.55	T	0.02339	-1.1174	9	.	.	.	-10.2332	12.0873	0.53704	0.0:0.0:0.6988:0.3012	.	141;141;141	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	C	141;142;141;141	ENSP00000267229:R141C;ENSP00000390222:R141C	.	R	-	1	0	RBM26	78843294	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.601000	0.54059	2.328000	0.79073	0.557000	0.71058	CGT		0.338	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		10	118	0	0	0	0.006214	0	10	118		
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:101315270G>T	ENST00000376234.3	-	4	632	c.443C>A	c.(442-444)gCg>gAg	p.A148E	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000342624.5_Missense_Mutation_p.A167E	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	148						integral component of membrane (GO:0016021)		p.A167E(2)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGGGACGCCCTGGGGGC	0.602																																						uc001vou.2		NaN																	2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(2)|breast(1)	3						c.(442-444)GCG>GAG		transmembrane and tetratricopeptide repeat							55.0	64.0	61.0					13																	101315270		2150	4263	6413	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101315270G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.443C>A	13.37:g.101315270G>T	ENSP00000365408:p.Ala148Glu					TMTC4_uc001vot.2_Missense_Mutation_p.A167E|TMTC4_uc010tja.1_Intron	p.A148E	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			4	603	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		148			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.443C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635185	0.67130	.	.	ENSG00000125247	ENST00000376234;ENST00000342624	D;D	0.94758	-3.51;-3.51	5.43	5.43	0.79202	.	0.402770	0.30036	N	0.010566	D	0.94105	0.8110	M	0.72894	2.215	0.80722	D	1	B;B	0.15930	0.005;0.015	B;B	0.20384	0.018;0.029	D	0.91013	0.4851	10	0.45353	T	0.12	.	19.2569	0.93949	0.0:0.0:1.0:0.0	.	148;167	Q5T4D3;Q5T4D3-3	TMTC4_HUMAN;.	E	148;167	ENSP00000365408:A148E;ENSP00000343871:A167E	ENSP00000343871:A167E	A	-	2	0	TMTC4	100113271	1.000000	0.71417	0.050000	0.19076	0.707000	0.40811	9.230000	0.95299	2.561000	0.86390	0.561000	0.74099	GCG		0.602	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2		NM_032813		8	147	1	0	7.48243e-07	0.006214	8.4122e-07	8	147		
DHRS7	51635	broad.mit.edu	37	14	60619882	60619882	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:60619882G>A	ENST00000216500.5	-	5	863	c.408C>T	c.(406-408)gtC>gtT	p.V136V	DHRS7_ENST00000557185.1_Silent_p.V136V|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000536410.2_Silent_p.V86V			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	136						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACCATTGTTGACCAGAATGT	0.423																																						uc001xes.2		NaN																	0				ovary(1)	1						c.(406-408)GTC>GTT		dehydrogenase/reductase (SDR family) member 7							86.0	79.0	81.0					14																	60619882		2203	4300	6503	SO:0001819	synonymous_variant	51635						binding|oxidoreductase activity	g.chr14:60619882G>A	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.408C>T	14.37:g.60619882G>A						C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.V86V|DHRS7_uc001xeu.2_Silent_p.V136V	p.V136V	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	4	592	-			136					B2R896|Q9UKU2	Silent	SNP	ENST00000216500.5	37	c.408C>T	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	6.721	0.501725	0.12822	.	.	ENSG00000100612	ENST00000557751;ENST00000554101	.	.	.	5.95	3.92	0.45320	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61486	-0.7053	4	.	.	.	.	11.6986	0.51558	0.0:0.1956:0.6166:0.1878	.	.	.	.	L	4;131	.	.	S	-	2	0	DHRS7	59689635	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	0.865000	0.27940	1.497000	0.48584	0.563000	0.77884	TCA		0.423	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2		NM_016029		13	48	0	0	0	0.013537	0	13	48		
PSEN1	5663	broad.mit.edu	37	14	73664744	73664744	+	Missense_Mutation	SNP	G	G	A	rs568741200		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:73664744G>A	ENST00000324501.5	+	8	1047	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	PSEN1_ENST00000344094.3_Missense_Mutation_p.V259M|PSEN1_ENST00000357710.4_Missense_Mutation_p.V255M|PSEN1_ENST00000557511.1_Missense_Mutation_p.V259M|PSEN1_ENST00000261970.3_Missense_Mutation_p.V259M|PSEN1_ENST00000406768.1_Missense_Mutation_p.V167M|PSEN1_ENST00000394164.1_Missense_Mutation_p.V255M	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	259					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCTAGATTTAGTGGCTGTTTT	0.368																																						uc001xnr.2		NaN																	0				breast(1)|kidney(1)	2						c.(775-777)GTG>ATG		presenilin 1 isoform I-467							50.0	51.0	50.0					14																	73664744		2203	4299	6502	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73664744G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.775G>A	14.37:g.73664744G>A	ENSP00000326366:p.Val259Met					PSEN1_uc001xnv.2_Missense_Mutation_p.V255M|PSEN1_uc010ark.2_Missense_Mutation_p.V255M|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	p.V259M	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	8	1059	+			259			Helical; (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.775G>A	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733168	0.48939	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	5.82	5.82	0.92795	.	0.134658	0.51477	D	0.000087	D	0.99588	0.9851	M	0.89715	3.055	0.51012	D	0.999907	B;P	0.49253	0.272;0.921	B;P	0.56278	0.266;0.795	D	0.97827	1.0260	10	0.72032	D	0.01	-18.2664	9.7913	0.40708	0.1887:0.0:0.8113:0.0	.	255;259	P49768-2;P49768	.;PSN1_HUMAN	M	259;255;259;259;255;259;167	ENSP00000326366:V259M;ENSP00000350342:V255M;ENSP00000261970:V259M;ENSP00000339523:V259M;ENSP00000377719:V255M;ENSP00000451429:V259M;ENSP00000385948:V167M	ENSP00000261970:V259M	V	+	1	0	PSEN1	72734497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.542000	0.36137	2.752000	0.94435	0.655000	0.94253	GTG		0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2				4	34	0	0	0	0.009096	0	4	34		
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	T	rs371867600		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:93125804C>T	ENST00000216487.7	+	7	2484	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582																																						uc001yap.2		NaN																	0				lung(2)|ovary(1)	3						c.(2323-2325)CTC>CTT		Ras and Rab interactor 3		C		0,4406		0,0,2203	82.0	73.0	76.0		2325	-10.1	0.3	14		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIN3	NM_024832.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		775/986	93125804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125804C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2325C>T	14.37:g.93125804C>T						RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	p.L775L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			7	2477	+		all_cancers(154;0.0701)	775			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.2325C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640573	0.14386	0.0	1.16E-4	ENSG00000100599	ENST00000556418	.	.	.	5.84	-10.1	0.00402	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.49299	D	0.999775	.	.	.	.	.	.	T	0.40327	-0.9569	4	.	.	.	-12.7926	1.2003	0.01883	0.2125:0.2094:0.1633:0.4149	.	.	.	.	W	292	.	.	R	+	1	2	RIN3	92195557	0.016000	0.18221	0.265000	0.24526	0.926000	0.56050	-0.797000	0.04570	-1.655000	0.01497	-0.969000	0.02612	CGG		0.582	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1				10	108	0	0	0	0.008291	0	10	108		
HERC1	8925	broad.mit.edu	37	15	63984690	63984690	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:63984690G>C	ENST00000443617.2	-	31	5837	c.5750C>G	c.(5749-5751)tCa>tGa	p.S1917*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1917					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATTGCTTTTGAAGATACAAC	0.403																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(5749-5751)TCA>TGA		hect domain and RCC1-like domain 1							86.0	80.0	82.0					15																	63984690		1822	4086	5908	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63984690G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5750C>G	15.37:g.63984690G>C	ENSP00000390158:p.Ser1917*						p.S1917*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			31	5898	-			1917					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.5750C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537590	0.99748	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.6995	0.96047	0.0:0.0:1.0:0.0	.	.	.	.	X	1917	.	ENSP00000390158:S1917X	S	-	2	0	HERC1	61771743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.305000	0.96197	2.652000	0.90054	0.650000	0.86243	TCA		0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		5	75	0	0	0	0.000602	0	5	75		
CLPX	10845	broad.mit.edu	37	15	65447361	65447361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65447361G>A	ENST00000300107.3	-	11	1558	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	457					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGCAAGGTCTGCAGCAGCTGC	0.408																																						uc002aom.2		NaN																	0					0						c.(1369-1371)GCA>GTA		ClpX caseinolytic protease X homolog precursor							118.0	98.0	105.0					15																	65447361		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65447361G>A	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1370C>T	15.37:g.65447361G>A	ENSP00000300107:p.Ala457Val					CLPX_uc010uiu.1_RNA	p.A457V	NM_006660	NP_006651	O76031	CLPX_HUMAN			11	1442	-			457					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.1370C>T	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195284	0.78902	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.19105	2.17	5.21	5.21	0.72293	ATPase, AAA-2 (1);	0.048610	0.85682	D	0.000000	T	0.27629	0.0679	L	0.56769	1.78	0.80722	D	1	B	0.17038	0.02	B	0.19666	0.026	T	0.05886	-1.0858	10	0.72032	D	0.01	.	18.9601	0.92674	0.0:0.0:1.0:0.0	.	457	O76031	CLPX_HUMAN	V	457	ENSP00000300107:A457V	ENSP00000300107:A457V	A	-	2	0	CLPX	63234414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.615000	0.98356	2.692000	0.91855	0.650000	0.86243	GCA		0.408	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2		NM_006660		14	58	0	0	0	0.001855	0	14	58		
DENND4A	10260	broad.mit.edu	37	15	65983668	65983668	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65983668G>A	ENST00000431932.2	-	22	3340	c.3132C>T	c.(3130-3132)ctC>ctT	p.L1044L	DENND4A_ENST00000443035.3_Silent_p.L1087L|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1044					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAATTCTATTGAGCATAAATC	0.383																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3130-3132)CTC>CTT		DENN/MADD domain containing 4A isoform 2							82.0	71.0	74.0					15																	65983668		1812	4078	5890	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983668G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3132C>T	15.37:g.65983668G>A						DENND4A_uc002api.2_Silent_p.L1087L|DENND4A_uc002apj.3_Silent_p.L1044L	p.L1044L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			22	3510	-			1044					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.3132C>T	CCDS45285.1																																																																																				0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		5	57	0	0	0	0.001168	0	5	57		
CORO2B	10391	broad.mit.edu	37	15	68987486	68987486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:68987486G>A	ENST00000566799.1	+	3	253	c.224G>A	c.(223-225)aGg>aAg	p.R75K	CORO2B_ENST00000540068.1_Missense_Mutation_p.R70K|CORO2B_ENST00000261861.5_Missense_Mutation_p.R70K|CORO2B_ENST00000543950.1_Missense_Mutation_p.R70K			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	75					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGACAGGCAGGATTGAACCC	0.532																																						uc002arj.3		NaN																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(223-225)AGG>AAG		coronin, actin binding protein, 2B							87.0	78.0	81.0					15																	68987486		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68987486G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.224G>A	15.37:g.68987486G>A	ENSP00000454783:p.Arg75Lys					CORO2B_uc010bic.2_Missense_Mutation_p.R70K	p.R75K	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			3	253	+			75					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.224G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681710	0.68042	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.05447	3.44;3.44	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.073966	0.48767	U	0.000165	T	0.04724	0.0128	N	0.05441	-0.05	0.58432	D	0.999999	B	0.15141	0.012	B	0.15052	0.012	T	0.50389	-0.8834	10	0.33940	T	0.23	-36.3706	17.5815	0.87970	0.0:0.0:1.0:0.0	.	75	Q9UQ03	COR2B_HUMAN	K	75;70;70	ENSP00000446250:R70K;ENSP00000443819:R70K	ENSP00000261861:R75K	R	+	2	0	CORO2B	66774540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.574000	0.98184	2.583000	0.87209	0.555000	0.69702	AGG		0.532	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006091		24	87	0	0	0	0.00333	0	24	87		
NRG4	145957	broad.mit.edu	37	15	76254308	76254308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:76254308C>T	ENST00000394907.3	-	4	293	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NRG4_ENST00000535975.1_Missense_Mutation_p.E38K	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	38	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GTATAGTTTTCAACGCACCTA	0.388																																						uc002bbo.2		NaN																	0					0						c.(112-114)GAA>AAA		neuregulin 4							66.0	70.0	69.0					15																	76254308		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76254308C>T	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.112G>A	15.37:g.76254308C>T	ENSP00000378367:p.Glu38Lys					NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	p.E38K	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			4	296	-			38			Extracellular (Potential).|EGF-like.		A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.112G>A	CCDS10288.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059479	0.76074	.	.	ENSG00000169752	ENST00000394907;ENST00000535975	T;T	0.41758	0.99;0.99	5.29	5.29	0.74685	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.31589	U	0.007398	T	0.51618	0.1685	L	0.39020	1.185	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.36187	-0.9758	10	0.20046	T	0.44	-9.9557	15.6503	0.77088	0.0:1.0:0.0:0.0	.	38	Q8WWG1	NRG4_HUMAN	K	38	ENSP00000378367:E38K;ENSP00000441129:E38K	ENSP00000378367:E38K	E	-	1	0	NRG4	74041363	1.000000	0.71417	0.996000	0.52242	0.589000	0.36550	2.817000	0.48034	2.456000	0.83038	0.557000	0.71058	GAA		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1		NM_138573		21	107	0	0	0	0.008871	0	21	107		
CHD2	1106	broad.mit.edu	37	15	93547859	93547859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:93547859G>T	ENST00000394196.4	+	34	5359	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1431Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1431					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAAAGTGGTGATGCCAAATC	0.403																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(4291-4293)GAT>TAT		chromodomain helicase DNA binding protein 2							146.0	134.0	138.0					15																	93547859		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93547859G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4291G>T	15.37:g.93547859G>T	ENSP00000377747:p.Asp1431Tyr					CHD2_uc002bso.1_Missense_Mutation_p.D1431Y	p.D1431Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	4866	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1431					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4291G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117840	0.56505	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02579	4.24;4.24	5.34	5.34	0.76211	.	0.219082	0.22309	U	0.061742	T	0.03827	0.0108	N	0.08118	0	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.48141	0.259;0.568	T	0.60782	-0.7195	10	0.66056	D	0.02	-25.033	19.0366	0.92982	0.0:0.0:1.0:0.0	.	1431;1431	O14647;O14647-2	CHD2_HUMAN;.	Y	1431	ENSP00000377747:D1431Y;ENSP00000451366:D1431Y	ENSP00000377747:D1431Y	D	+	1	0	CHD2	91348863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.487000	0.83934	0.655000	0.94253	GAT		0.403	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		7	132	1	0	0.00307968	0.00308	0.00330587	7	132		
COG8	84342	broad.mit.edu	37	16	69373204	69373204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:69373204G>C	ENST00000306875.4	-	1	366	c.252C>G	c.(250-252)ttC>ttG	p.F84L	NIP7_ENST00000254941.6_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_5'Flank|NIP7_ENST00000254940.5_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.F84L	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	84					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TGTAGTTAGCGAAGGCCAAGT	0.716																																						uc002ewy.2		NaN																	0				ovary(1)	1						c.(250-252)TTC>TTG		component of oligomeric golgi complex 8							13.0	16.0	15.0					16																	69373204		2154	4227	6381	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69373204G>C	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.252C>G	16.37:g.69373204G>C	ENSP00000305459:p.Phe84Leu					COG8_uc002ewz.3_Missense_Mutation_p.F84L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	p.F84L	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			1	323	-			84					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.252C>G	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222304	0.79464	.	.	ENSG00000213380	ENST00000306875	T	0.43688	0.94	5.23	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.52266	1.64	0.53688	D	0.99997	P;P	0.37636	0.603;0.603	P;P	0.48598	0.583;0.485	T	0.42120	-0.9470	10	0.34782	T	0.22	-6.5257	13.1922	0.59717	0.0779:0.0:0.9221:0.0	.	111;84	B4DYU2;Q96MW5	.;COG8_HUMAN	L	84	ENSP00000305459:F84L	ENSP00000305459:F84L	F	-	3	2	COG8	67930705	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	4.754000	0.62191	1.468000	0.48064	-0.381000	0.06696	TTC		0.716	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		4	30	0	0	0	0.009096	0	4	30		
ANKRD11	29123	broad.mit.edu	37	16	89348346	89348346	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:89348346T>C	ENST00000301030.4	-	9	5064	c.4604A>G	c.(4603-4605)aAg>aGg	p.K1535R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1535R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1535	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCACCGTCCTTGAATTTCTC	0.597																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4603-4605)AAG>AGG		ankyrin repeat domain 11							95.0	85.0	89.0					16																	89348346		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348346T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4604A>G	16.37:g.89348346T>C	ENSP00000301030:p.Lys1535Arg					ANKRD11_uc002fmy.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1492R	p.K1535R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5065	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1535			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4604A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	9.235	1.036935	0.19669	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.54479	0.57;0.57	4.27	-0.715	0.11215	.	0.412269	0.21499	N	0.073555	T	0.47078	0.1426	M	0.69823	2.125	0.19775	N	0.999955	B	0.09022	0.002	B	0.08055	0.003	T	0.39099	-0.9630	10	0.36615	T	0.2	.	10.4558	0.44550	0.0:0.2968:0.0:0.7032	.	1535	Q6UB99	ANR11_HUMAN	R	1535	ENSP00000301030:K1535R;ENSP00000367581:K1535R	ENSP00000301030:K1535R	K	-	2	0	ANKRD11	87875847	0.999000	0.42202	0.015000	0.15790	0.003000	0.03518	0.863000	0.27913	-0.604000	0.05760	-1.450000	0.01041	AAG		0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		3	84	0	0	0	0.004672	0	3	84		
CHRNE	1145	broad.mit.edu	37	17	4799524	4799524	+	IGR	SNP	G	G	T	rs563737153		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4799524G>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Missense_Mutation_p.D1139Y|MINK1_ENST00000355280.6_Missense_Mutation_p.D1168Y|MINK1_ENST00000453408.3_Missense_Mutation_p.D1148Y	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TCTGCTGGTCGACCTGACAGT	0.627											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vsl.1		NaN																	0				central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(3502-3504)GAC>TAC		misshapen-like kinase 1 isoform 3							66.0	75.0	72.0					17																	4799524		2123	4222	6345	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799524G>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799524G>T			OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	MINK1_uc010vsk.1_Missense_Mutation_p.D1139Y|MINK1_uc010vsm.1_Missense_Mutation_p.D1148Y|MINK1_uc010vsn.1_Missense_Mutation_p.D1131Y|MINK1_uc010vso.1_Missense_Mutation_p.D1076Y|MINK1_uc010vsp.1_Missense_Mutation_p.D629Y	p.D1168Y	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			29	3698	+			1168			Mediates interaction with RAP2A.|CNH.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3502G>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458039	0.84317	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.05025	3.51;3.51;3.51	4.71	4.71	0.59529	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.97;0.998;0.999;0.998	T	0.05289	-1.0894	10	0.87932	D	0	.	15.2058	0.73177	0.0:0.0:1.0:0.0	.	1131;1148;1168;1139	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Y	1168;1148;1139;128	ENSP00000347427:D1168Y;ENSP00000406487:D1148Y;ENSP00000269296:D1139Y	ENSP00000269296:D1139Y	D	+	1	0	MINK1	4740300	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	9.601000	0.98297	2.436000	0.82500	0.561000	0.74099	GAC		0.627	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3				6	53	1	0	0.00116845	0.001168	0.00126139	6	53		
CAMTA2	23125	broad.mit.edu	37	17	4883529	4883529	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4883529T>C	ENST00000348066.3	-	9	1211	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	CAMTA2_ENST00000381311.5_Missense_Mutation_p.E365G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E386G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E363G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E368G|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Missense_Mutation_p.E362G	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	363					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGCAGAAGGCTCAGTGCCTAC	0.617																																						uc002gah.1		NaN																	0				ovary(1)	1						c.(1087-1089)GAG>GGG		calmodulin binding transcription activator 2							55.0	54.0	54.0					17																	4883529		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883529T>C	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1088A>G	17.37:g.4883529T>C	ENSP00000321813:p.Glu363Gly					CAMTA2_uc010cku.1_Missense_Mutation_p.E386G|CAMTA2_uc002gag.1_Missense_Mutation_p.E362G|CAMTA2_uc002gai.1_Missense_Mutation_p.E365G|CAMTA2_uc010ckv.1_Missense_Mutation_p.E10G|CAMTA2_uc010vsu.1_Missense_Mutation_p.E176G	p.E363G	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1196	-			363					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1088A>G	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613860	0.28712	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.59	4.59	0.56863	.	0.096519	0.42548	D	0.000691	T	0.50017	0.1591	N	0.19112	0.55	0.28811	N	0.89825	P;P;P;P;D	0.61697	0.799;0.799;0.873;0.799;0.99	B;B;B;B;D	0.69142	0.202;0.272;0.367;0.202;0.962	T	0.44711	-0.9310	10	0.37606	T	0.19	-16.173	11.9717	0.53067	0.0:0.0:0.0:1.0	.	339;386;365;363;362	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	G	386;365;362;363;363	ENSP00000412886:E386G;ENSP00000370712:E365G;ENSP00000354828:E362G;ENSP00000350910:E363G;ENSP00000321813:E363G	ENSP00000321813:E363G	E	-	2	0	CAMTA2	4824253	1.000000	0.71417	0.999000	0.59377	0.324000	0.28378	0.779000	0.26746	1.934000	0.56057	0.533000	0.62120	GAG		0.617	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		24	24	0	0	0	0.003954	0	24	24		
SSH2	85464	broad.mit.edu	37	17	27963225	27963225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:27963225C>G	ENST00000269033.3	-	14	2093	c.1942G>C	c.(1942-1944)Gat>Cat	p.D648H	SSH2_ENST00000540801.1_Missense_Mutation_p.D675H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	648					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATGCGATCTGTACTGAAA	0.498																																						uc002heo.1		NaN																	0				skin(2)	2						c.(1942-1944)GAT>CAT		slingshot 2							71.0	73.0	72.0					17																	27963225		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963225C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1942G>C	17.37:g.27963225C>G	ENSP00000269033:p.Asp648His					SSH2_uc010wbh.1_Missense_Mutation_p.D675H	p.D648H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			14	1942	-			648					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1942G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454838	0.84209	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.58210	0.35;0.35	6.17	6.17	0.99709	.	0.319643	0.37577	N	0.002028	T	0.73783	0.3631	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73199	-0.4058	10	0.87932	D	0	-17.3974	20.8794	0.99867	0.0:1.0:0.0:0.0	.	675;648	F5H527;Q76I76	.;SSH2_HUMAN	H	648;675	ENSP00000269033:D648H;ENSP00000444743:D675H	ENSP00000269033:D648H	D	-	1	0	SSH2	24987351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.478000	0.73596	2.941000	0.99782	0.655000	0.94253	GAT		0.498	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		3	124	0	0	0	0.004672	0	3	124		
MLLT6	4302	broad.mit.edu	37	17	36874167	36874167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:36874167G>A	ENST00000325718.7	+	12	1994	c.1903G>A	c.(1903-1905)Gtt>Att	p.V635I	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	635					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGGGTGCCGTTAATCCCCT	0.557			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(1903-1905)GTT>ATT		myeloid/lymphoid or mixed-lineage leukemia							146.0	132.0	136.0					17																	36874167		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36874167G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1903G>A	17.37:g.36874167G>A	ENSP00000316426:p.Val635Ile					MLLT6_uc002hqj.2_Missense_Mutation_p.V70I|MLLT6_uc002hqk.3_5'Flank	p.V635I	NM_005937	NP_005928	P55198	AF17_HUMAN			12	1916	+	Breast(7;4.43e-21)		635					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1903G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391014	0.62066	.	.	ENSG00000108292	ENST00000325718	T	0.13901	2.55	5.48	4.51	0.55191	.	1.931730	0.02471	N	0.087506	T	0.12135	0.0295	N	0.22421	0.69	0.30829	N	0.73689	B;B	0.25105	0.086;0.118	B;B	0.17979	0.012;0.02	T	0.16719	-1.0393	10	0.48119	T	0.1	.	7.4347	0.27148	0.2523:0.0:0.7477:0.0	.	89;635	Q96I32;P55198	.;AF17_HUMAN	I	635	ENSP00000316426:V635I	ENSP00000316426:V635I	V	+	1	0	MLLT6	34127693	0.963000	0.33076	1.000000	0.80357	0.990000	0.78478	2.254000	0.43214	1.313000	0.45069	0.563000	0.77884	GTT		0.557	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937		6	170	0	0	0	0.001984	0	6	170		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs200532954	byFrequency	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:39240729A>G	ENST00000391417.4	+	1	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	116	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677													g|||	366	0.0730831	0.0272	0.0663	5008	,	,		17277	0.1012		0.1431	False		,,,				2504	0.0389					uc010wfn.1		NaN																	0					0						c.(271-273)ATG>GTG		keratin associated protein 4-7							11.0	17.0	15.0					17																	39240729		684	1582	2266	SO:0001583	missense	100132476							g.chr17:39240729A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.271A>G	17.37:g.39240729A>G	ENSP00000375236:p.Met91Val						p.M91V	NM_033061	NP_149050					1	271	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.271A>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.342089	0.01277	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00567	6.54	3.74	-2.07	0.07276	.	5.393590	0.01146	N	0.006314	T	0.00300	0.0009	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	9	0.05959	T	0.93	.	9.7653	0.40557	0.3807:0.0:0.6193:0.0	.	91	Q9BYR0	KRA47_HUMAN	V	91;82	ENSP00000375236:M91V	ENSP00000375236:M91V	M	+	1	0	KRTAP4-9;KRTAP4-7	36494255	0.000000	0.05858	0.006000	0.13384	0.872000	0.50106	-4.081000	0.00299	-0.949000	0.03663	-0.374000	0.07098	ATG		0.677	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1				3	38	0	0	0	0.000602	0	3	38		
BECN1	8678	broad.mit.edu	37	17	40971588	40971588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:40971588G>A	ENST00000361523.4	-	4	370	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	BECN1_ENST00000438274.3_Missense_Mutation_p.R80C|BECN1_ENST00000590099.1_Missense_Mutation_p.R80C	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	80					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGAATCTGCGAGAGACACCA	0.483											OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ibo.3		NaN																	0				ovary(1)	1						c.(238-240)CGC>TGC		beclin 1							54.0	53.0	54.0					17																	40971588		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40971588G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.238C>T	17.37:g.40971588G>A	ENSP00000355231:p.Arg80Cys		OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	BECN1_uc010whb.1_5'UTR|BECN1_uc010whc.1_Missense_Mutation_p.R80C|BECN1_uc002ibn.2_Missense_Mutation_p.R80C	p.R80C	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	4	373	-		Breast(137;0.00104)	80					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.238C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302313	0.60195	.	.	ENSG00000126581	ENST00000361523;ENST00000438274	T	0.32515	1.45	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.45137	1.4	0.58432	D	0.999992	D;D	0.89917	0.975;1.0	B;D	0.74348	0.336;0.983	T	0.31447	-0.9943	10	0.51188	T	0.08	.	16.4623	0.84064	0.0:0.0:0.8684:0.1316	.	80;80	E7EV84;Q14457	.;BECN1_HUMAN	C	80	ENSP00000355231:R80C	ENSP00000355231:R80C	R	-	1	0	BECN1	38225114	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.557000	0.36299	2.778000	0.95560	0.655000	0.94253	CGC		0.483	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1		NM_003766		7	46	0	0	0	0.001984	0	7	46		
KAT7	11143	broad.mit.edu	37	17	47893222	47893222	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:47893222G>A	ENST00000259021.4	+	8	1190	c.910G>A	c.(910-912)Gag>Aag	p.E304K	KAT7_ENST00000424009.2_Missense_Mutation_p.E274K|KAT7_ENST00000510819.1_Missense_Mutation_p.E135K|KAT7_ENST00000503935.2_Missense_Mutation_p.E148K|KAT7_ENST00000509773.1_Missense_Mutation_p.E194K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Missense_Mutation_p.E118K|KAT7_ENST00000454930.2_Missense_Mutation_p.E165K	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	304					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTGACAAGCGAGTATGACTT	0.463																																						uc002ipm.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(910-912)GAG>AAG		MYST histone acetyltransferase 2							98.0	97.0	97.0					17																	47893222		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47893222G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.910G>A	17.37:g.47893222G>A	ENSP00000259021:p.Glu304Lys					MYST2_uc002ipl.1_Missense_Mutation_p.E274K|MYST2_uc010wma.1_Missense_Mutation_p.E165K|MYST2_uc010wmb.1_Missense_Mutation_p.E194K|MYST2_uc010wmc.1_Missense_Mutation_p.E135K|MYST2_uc010wmd.1_Missense_Mutation_p.E148K|MYST2_uc010wme.1_Missense_Mutation_p.E118K|MYST2_uc010wmf.1_5'UTR|MYST2_uc010wmg.1_5'UTR	p.E304K	NM_007067	NP_008998	O95251	MYST2_HUMAN			8	1036	+			304					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.910G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180397	0.78677	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.36	5.36	0.76844	.	0.096900	0.64402	D	0.000001	T	0.51295	0.1666	L	0.35542	1.07	0.58432	D	0.999999	B;B;B;B;B;B	0.28512	0.029;0.214;0.089;0.103;0.06;0.038	B;B;B;B;B;B	0.16722	0.006;0.009;0.009;0.009;0.015;0.016	T	0.44065	-0.9352	9	0.22706	T	0.39	-20.4114	18.8697	0.92308	0.0:0.0:1.0:0.0	.	267;135;194;165;304;274	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	K	304;165;194;135;274;148;118	.	ENSP00000259021:E304K	E	+	1	0	KAT7	45248221	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.750000	0.91623	2.788000	0.95919	0.650000	0.86243	GAG		0.463	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1		NM_007067		14	95	0	0	0	0.00499	0	14	95		
ANKFN1	162282	broad.mit.edu	37	17	54450013	54450013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54450013G>T	ENST00000318698.2	+	6	652	c.617G>T	c.(616-618)aGc>aTc	p.S206I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.S206I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	206										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTAGTTGTCAGCCTGGAAAGC	0.463																																						uc002iun.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(616-618)AGC>ATC		ankyrin-repeat and fibronectin type III domain							97.0	96.0	97.0					17																	54450013		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54450013G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.617G>T	17.37:g.54450013G>T	ENSP00000321627:p.Ser206Ile						p.S206I	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	652	+			206			Potential.			Missense_Mutation	SNP	ENST00000318698.2	37	c.617G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567134	0.65651	.	.	ENSG00000153930	ENST00000318698	T	0.26373	1.74	5.64	5.64	0.86602	.	0.073053	0.85682	D	0.000000	T	0.24967	0.0606	M	0.71581	2.175	0.41345	D	0.987325	P	0.42409	0.779	B	0.34242	0.178	T	0.12218	-1.0556	10	0.87932	D	0	-14.0404	8.4727	0.32995	0.1109:0.1467:0.7424:0.0	.	206	Q8N957	ANKF1_HUMAN	I	206	ENSP00000321627:S206I	ENSP00000321627:S206I	S	+	2	0	ANKFN1	51805012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.857000	0.55972	2.655000	0.90218	0.462000	0.41574	AGC		0.463	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228		27	103	1	0	1.77063e-15	0.005443	2.10263e-15	27	103		
TRIM25	7706	broad.mit.edu	37	17	54991298	54991298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54991298C>T	ENST00000316881.4	-	1	101	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E18K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	18					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TTGAAGGGCTCCAGGCAGATG	0.682																																						uc002iut.2		NaN																	0				lung(1)|breast(1)|skin(1)	3						c.(52-54)GAG>AAG		tripartite motif-containing 25							16.0	12.0	13.0					17																	54991298		2179	4289	6468	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54991298C>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.52G>A	17.37:g.54991298C>T	ENSP00000323889:p.Glu18Lys					TRIM25_uc010dcj.2_5'UTR	p.E18K	NM_005082	NP_005073	Q14258	TRI25_HUMAN			1	112	-	Breast(9;6.15e-08)		18			RING-type.			Missense_Mutation	SNP	ENST00000316881.4	37	c.52G>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708909	0.30322	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.08984	3.03;3.03	5.32	3.36	0.38483	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.102642	0.43416	N	0.000568	T	0.08980	0.0222	L	0.54965	1.715	0.29425	N	0.860243	B	0.20368	0.044	B	0.24848	0.056	T	0.10154	-1.0642	10	0.52906	T	0.07	.	5.6164	0.17434	0.141:0.6335:0.0:0.2254	.	18	Q14258	TRI25_HUMAN	K	18	ENSP00000323889:E18K;ENSP00000445961:E18K	ENSP00000323889:E18K	E	-	1	0	TRIM25	52346297	0.016000	0.18221	0.989000	0.46669	0.136000	0.21042	0.086000	0.14935	0.838000	0.34948	-0.142000	0.14014	GAG		0.682	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1		NM_005082		4	13	0	0	0	0.009096	0	4	13		
MOCOS	55034	broad.mit.edu	37	18	33795828	33795828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:33795828G>A	ENST00000261326.5	+	8	1706	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATGTCGCCAGAACCCAGCCG	0.552																																						uc002kzq.3		NaN																	0				skin(1)	1						c.(1684-1686)AGA>AAA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						51.0	51.0	51.0					18																	33795828		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795828G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1685G>A	18.37:g.33795828G>A	ENSP00000261326:p.Arg562Lys						p.R562K	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			8	1708	+			562						Missense_Mutation	SNP	ENST00000261326.5	37	c.1685G>A	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	0.961	-0.703121	0.03255	.	.	ENSG00000075643	ENST00000261326	T	0.15372	2.43	5.22	2.41	0.29592	.	1.261620	0.04726	N	0.420207	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.31447	-0.9943	10	0.05721	T	0.95	1.103	5.085	0.14676	0.1882:0.1725:0.6393:0.0	.	562	Q96EN8	MOCOS_HUMAN	K	562	ENSP00000261326:R562K	ENSP00000261326:R562K	R	+	2	0	MOCOS	32049826	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.124000	0.31320	0.202000	0.20498	0.484000	0.47621	AGA		0.552	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1				5	78	0	0	0	0.001168	0	5	78		
TCEB3C	162699	broad.mit.edu	37	18	44555115	44555115	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:44555115G>A	ENST00000330682.2	-	1	1334	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	367	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CACCCTTCCAGAACGGGTTCA	0.607																																						uc010xdb.1		NaN																	0					0						c.(1099-1101)CTG>TTG		transcription elongation factor B polypeptide							490.0	461.0	470.0					18																	44555115		1964	3971	5935	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555115G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1099C>T	18.37:g.44555115G>A						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.L367L	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1335	-			367			Activation domain (By similarity).			Silent	SNP	ENST00000330682.2	37	c.1099C>T	CCDS11931.1																																																																																				0.607	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1		NM_145653		12	788	0	0	0	0.006122	0	12	788		
C18orf54	162681	broad.mit.edu	37	18	51900620	51900620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:51900620G>A	ENST00000300091.5	+	7	1344	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Missense_Mutation_p.E117K|C18orf54_ENST00000382911.4_Missense_Mutation_p.E499K	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	338						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACAGTTGAAGGAAAGTATGAT	0.249																																						uc002lfn.3		NaN																	0				ovary(1)|skin(1)	2						c.(1012-1014)GAA>AAA		hypothetical protein LOC162681 precursor							35.0	40.0	38.0					18																	51900620		2189	4259	6448	SO:0001583	missense	162681					extracellular region		g.chr18:51900620G>A	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.1012G>A	18.37:g.51900620G>A	ENSP00000300091:p.Glu338Lys					C18orf54_uc002lfo.3_Missense_Mutation_p.E499K	p.E338K	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	7	1128	+			338					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.1012G>A	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803457	0.31869	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.21031	2.03;2.03	4.55	3.68	0.42216	.	0.240261	0.35903	N	0.002906	T	0.31638	0.0803	M	0.70595	2.14	0.23132	N	0.998249	D;B	0.56035	0.974;0.033	P;B	0.53861	0.736;0.027	T	0.10337	-1.0634	10	0.45353	T	0.12	-13.3027	6.4428	0.21859	0.0965:0.1847:0.7187:0.0	.	499;338	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	K	338;499	ENSP00000300091:E338K;ENSP00000372368:E499K	ENSP00000300091:E338K	E	+	1	0	C18orf54	50154618	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.444000	0.52914	1.514000	0.48869	0.585000	0.79938	GAA		0.249	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1		NM_173529		3	43	0	0	0	0.009096	0	3	43		
CDH20	28316	broad.mit.edu	37	18	59166706	59166706	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:59166706C>T	ENST00000262717.4	+	3	932	c.534C>T	c.(532-534)tcC>tcT	p.S178S	CDH20_ENST00000538374.1_Silent_p.S178S|CDH20_ENST00000536675.2_Silent_p.S178S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGAAATGTCCCCTGTGGGTA	0.458																																						uc010dps.1		NaN																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(532-534)TCC>TCT		cadherin 20, type 2 preproprotein							66.0	68.0	67.0					18																	59166706		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166706C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.534C>T	18.37:g.59166706C>T						CDH20_uc002lif.2_Silent_p.S172S	p.S178S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			2	546	+		Colorectal(73;0.186)	178			Extracellular (Potential).|Cadherin 2.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.534C>T	CCDS11977.1																																																																																				0.458	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2		NM_031891		12	39	0	0	0	0.001855	0	12	39		
MUC16	94025	broad.mit.edu	37	19	9090712	9090712	+	Missense_Mutation	SNP	T	T	C	rs527935365		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:9090712T>C	ENST00000397910.4	-	1	1306	c.1103A>G	c.(1102-1104)cAt>cGt	p.H368R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	368	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGAAGGCATGGAAGGTAAG	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		22076	0.001		0.0	False		,,,				2504	0.0					uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1102-1104)CAT>CGT		mucin 16							93.0	88.0	89.0					19																	9090712		2042	4196	6238	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090712T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1103A>G	19.37:g.9090712T>C	ENSP00000381008:p.His368Arg						p.H368R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1307	-			368			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1103A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.809	-0.752668	0.03041	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.38	-1.12	0.09808	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.43294	-0.9400	8	0.87932	D	0	.	3.971	0.09454	0.0:0.5281:0.0:0.4719	.	368	B5ME49	.	R	368	ENSP00000381008:H368R	ENSP00000381008:H368R	H	-	2	0	MUC16	8951712	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.269000	0.08596	-0.222000	0.09958	-0.696000	0.03686	CAT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		11	34	0	0	0	0.010729	0	11	34		
SMARCA4	6597	broad.mit.edu	37	19	11094864	11094864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:11094864C>T	ENST00000429416.3	+	3	318	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R13W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R13W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R13W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R13W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	13	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGAACTCCTCGGCCAGGTCC	0.687			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(37-39)CGG>TGG		SWI/SNF-related matrix-associated							29.0	36.0	33.0					19																	11094864		2202	4300	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11094864C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.37C>T	19.37:g.11094864C>T	ENSP00000395654:p.Arg13Trp					SMARCA4_uc010dxp.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R13W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R13W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqe.2_Missense_Mutation_p.R13W	p.R13W	NM_003072	NP_003063	P51532	SMCA4_HUMAN			2	321	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	13			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.37C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557331	0.65425	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.88431	-2.36;-2.38;-2.36;-2.34;-2.34;-2.35;-2.34	4.95	2.74	0.32292	.	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	L	0.36672	1.1	0.45284	D	0.99828	D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997;0.997;0.997	P;P;P;P;P;P;P	0.53593	0.73;0.73;0.73;0.73;0.73;0.73;0.73	D	0.87908	0.2695	10	0.87932	D	0	-39.3732	12.8754	0.57988	0.2944:0.7056:0.0:0.0	.	13;13;13;13;13;13;13	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	13	ENSP00000395654:R13W;ENSP00000350720:R13W;ENSP00000343896:R13W;ENSP00000445036:R13W;ENSP00000392837:R13W;ENSP00000397783:R13W;ENSP00000414727:R13W	ENSP00000343896:R13W	R	+	1	2	SMARCA4	10955864	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.623000	0.54224	0.619000	0.30197	0.655000	0.94253	CGG		0.687	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		13	56	0	0	0	0.00245	0	13	56		
PLVAP	83483	broad.mit.edu	37	19	17476167	17476167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:17476167C>G	ENST00000252590.4	-	3	1168	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	369					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCGCCTCCCTCTTCTTCTCTT	0.617																																						uc002ngk.1		NaN																	0					0						c.(1105-1107)AAG>AAC		plasmalemma vesicle associated protein							100.0	88.0	92.0					19																	17476167		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476167C>G	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1107G>C	19.37:g.17476167C>G	ENSP00000252590:p.Lys369Asn						p.K369N	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1157	-			369			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.1107G>C	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462320	0.43736	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	3.19	0.36642	.	0.289363	0.34802	N	0.003670	T	0.46171	0.1379	L	0.32530	0.975	0.09310	N	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24693	-1.0153	9	0.59425	D	0.04	-39.8733	8.2635	0.31799	0.0:0.8157:0.0:0.1843	.	369	Q9BX97	PLVAP_HUMAN	N	369	.	ENSP00000252590:K369N	K	-	3	2	PLVAP	17337167	0.395000	0.25254	0.025000	0.17156	0.416000	0.31233	0.856000	0.27818	0.641000	0.30601	0.462000	0.41574	AAG		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		3	101	0	0	0	0.004672	0	3	101		
GDF15	9518	broad.mit.edu	37	19	18499744	18499744	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:18499744G>C	ENST00000252809.3	+	2	958	c.926G>C	c.(925-927)tGa>tCa	p.*309S	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	0					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CACTGCATATGAGCAGTCCTG	0.572											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002niv.2		NaN																	0				central_nervous_system(1)	1						c.(925-927)TGA>TCA		growth differentiation factor 15							45.0	48.0	47.0					19																	18499744		2190	4264	6454	SO:0001578	stop_lost	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18499744G>C	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.926G>C	19.37:g.18499744G>C	ENSP00000252809:p.*309Serext*41		OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.*309S	NM_004864	NP_004855	Q99988	GDF15_HUMAN			2	958	+			309					O14629|P78360|Q9BWA0|Q9NRT0	Nonstop_Mutation	SNP	ENST00000252809.3	37	c.926G>C	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	G	5.239	0.229525	0.09916	.	.	ENSG00000130513	ENST00000252809	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.319	0.54973	0.0:0.0:1.0:0.0	.	.	.	.	S	309	.	.	X	+	2	2	GDF15	18360744	1.000000	0.71417	0.297000	0.24988	0.007000	0.05969	3.887000	0.56197	1.988000	0.58038	0.313000	0.20887	TGA		0.572	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2		NM_004864		10	78	0	0	0	0.007413	0	10	78		
GATAD2A	54815	broad.mit.edu	37	19	19613328	19613328	+	Silent	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:19613328C>A	ENST00000360315.3	+	11	2076	c.1764C>A	c.(1762-1764)ctC>ctA	p.L588L	GATAD2A_ENST00000429563.2_Silent_p.L391L|GATAD2A_ENST00000404158.1_Silent_p.L589L|GATAD2A_ENST00000252577.5_Silent_p.L563L|GATAD2A_ENST00000537887.1_Silent_p.L217L|GATAD2A_ENST00000358713.3_Silent_p.L588L	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	588					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGACGCCCCTCAGCACAGGTG	0.637																																						uc010xqt.1		NaN																	0					0						c.(1762-1764)CTC>CTA		GATA zinc finger domain containing 2A							42.0	49.0	47.0					19																	19613328		2200	4300	6500	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19613328C>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1764C>A	19.37:g.19613328C>A						GATAD2A_uc010xqu.1_Silent_p.L217L|GATAD2A_uc010xqv.1_Silent_p.L608L|GATAD2A_uc010xqw.1_Silent_p.L391L	p.L588L	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			11	2076	+			588					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.1764C>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	0.317	-0.964041	0.02249	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.32	-0.043	0.13861	.	.	.	.	.	T	0.71813	0.3384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74228	-0.3733	4	.	.	.	-22.1681	18.8682	0.92301	0.0:0.7889:0.2111:0.0	.	.	.	.	K	190	.	.	Q	+	1	0	GATAD2A	19474328	1.000000	0.71417	0.779000	0.31741	0.006000	0.05464	1.897000	0.39799	0.209000	0.20645	-0.933000	0.02702	CAG		0.637	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4		NM_017660		16	86	1	0	3.45872e-05	0.004007	3.84302e-05	16	86		
ZNF99	7652	broad.mit.edu	37	19	22939368	22939368	+	IGR	SNP	T	T	C	rs551029019	byFrequency	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:22939368T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.K935E|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)				TGAATTGATTTATGTTTAGTA	0.373																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(2803-2805)AAA>GAA		zinc finger protein 99							34.0	46.0	42.0					19																	22939368		1940	4259	6199	SO:0001628	intergenic_variant	7652							g.chr19:22939368T>C	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			19.37:g.22939368T>C							p.K935E	NM_001080409	NP_001073878					7	2803	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2803A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	10.83	1.460191	0.26248	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	1	P	0.47604	0.898	P	0.57846	0.828	T	0.16424	-1.0403	8	0.72032	D	0.01	.	1.3383	0.02149	0.1672:0.1795:0.4323:0.221	.	935	A8MXY4	ZNF99_HUMAN	E	935	ENSP00000380293:K935E	ENSP00000380293:K935E	K	-	1	0	ZNF99	22731208	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.181000	0.09740	-1.339000	0.02230	0.318000	0.21364	AAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		15	38	0	0	0	0.004007	0	15	38		
SCGB2B2	284402	broad.mit.edu	37	19	35085106	35085106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35085106C>T	ENST00000601241.1	-	3	2320	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.E74K			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	74						extracellular region (GO:0005576)											GCAAATCTTTCTGTCACGGAG	0.542																																						uc002nvn.2		NaN																	0					0						c.(220-222)GAA>AAA		secretoglobin-like precursor							107.0	92.0	97.0					19																	35085106		2203	4300	6503	SO:0001583	missense	284402					extracellular region	binding	g.chr19:35085106C>T	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.220G>A	19.37:g.35085106C>T	ENSP00000469876:p.Glu74Lys						p.E74K	NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN			2	242	-			74						Missense_Mutation	SNP	ENST00000601241.1	37	c.220G>A	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938781	0.18206	.	.	ENSG00000205209	ENST00000379204	T	0.11930	2.73	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	P	0.38767	0.646	P	0.49752	0.621	T	0.23261	-1.0193	7	0.87932	D	0	.	.	.	.	.	74	Q4G0G5	SCGBL_HUMAN	K	74	ENSP00000368502:E74K	ENSP00000368502:E74K	E	-	1	0	SCGBL	39776946	0.009000	0.17119	0.227000	0.23927	0.228000	0.25075	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	GAA		0.542	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2		NM_001025591		17	175	0	0	0	0.008871	0	17	175		
RSPH6A	81492	broad.mit.edu	37	19	46307611	46307611	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:46307611C>T	ENST00000221538.3	-	3	1694	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	RSPH6A_ENST00000600188.1_Missense_Mutation_p.D254N|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D518N	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	518	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCGTAGGAGTCGCGCCCAGCA	0.647																																						uc002pdm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1552-1554)GAC>AAC		radial spokehead-like 1							52.0	50.0	50.0					19																	46307611		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46307611C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1552G>A	19.37:g.46307611C>T	ENSP00000221538:p.Asp518Asn					RSPH6A_uc002pdl.2_Missense_Mutation_p.D254N	p.D518N	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1695	-			518			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1552G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297600	0.60086	.	.	ENSG00000104941	ENST00000221538	T	0.18810	2.19	3.92	3.92	0.45320	.	0.056047	0.64402	D	0.000002	T	0.41026	0.1141	M	0.71036	2.16	0.35154	D	0.770063	D	0.76494	0.999	D	0.64776	0.929	T	0.49679	-0.8914	10	0.30078	T	0.28	-18.4659	14.2926	0.66289	0.0:1.0:0.0:0.0	.	518	Q9H0K4	RSH6A_HUMAN	N	518	ENSP00000221538:D518N	ENSP00000221538:D518N	D	-	1	0	RSPH6A	50999451	1.000000	0.71417	0.491000	0.27477	0.968000	0.65278	5.166000	0.64965	2.497000	0.84241	0.555000	0.69702	GAC		0.647	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1				12	88	0	0	0	0.013537	0	12	88		
SPHK2	56848	broad.mit.edu	37	19	49132875	49132875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:49132875G>A	ENST00000245222.4	+	7	2176	c.1810G>A	c.(1810-1812)Gcg>Acg	p.A604T	SPHK2_ENST00000599029.1_Missense_Mutation_p.A568T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A566T|SPHK2_ENST00000443164.1_Missense_Mutation_p.A666T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A568T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A545T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A604T	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	604					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGCTACGCCGCGGCCCGTGC	0.687																																						uc002pjr.2		NaN																	0				lung(1)	1						c.(1810-1812)GCG>ACG		sphingosine kinase 2							17.0	15.0	16.0					19																	49132875		2197	4293	6490	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132875G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1810G>A	19.37:g.49132875G>A	ENSP00000245222:p.Ala604Thr					SPHK2_uc010xzt.1_Missense_Mutation_p.A545T|SPHK2_uc002pjs.2_Missense_Mutation_p.A604T|SPHK2_uc002pjt.2_Missense_Mutation_p.A398T|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.A568T|SPHK2_uc002pjw.2_Missense_Mutation_p.A666T	p.A604T	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	2176	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	604					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1810G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215977	0.39201	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.13420	2.59;2.59;2.59	4.78	0.209	0.15226	.	0.314350	0.34435	N	0.003977	T	0.06096	0.0158	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28783	0.001;0.222;0.214	B;B;B	0.15484	0.001;0.013;0.009	T	0.27191	-1.0081	10	0.42905	T	0.14	-29.2131	4.1954	0.10441	0.2835:0.3323:0.3842:0.0	.	545;666;604	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	T	604;577;566;666	ENSP00000245222:A604T;ENSP00000341091:A566T;ENSP00000413369:A666T	ENSP00000245222:A604T	A	+	1	0	SPHK2	53824687	0.000000	0.05858	0.069000	0.20011	0.987000	0.75469	0.621000	0.24418	0.299000	0.22661	0.555000	0.69702	GCG		0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				4	10	0	0	0	0.001168	0	4	10		
KLK10	5655	broad.mit.edu	37	19	51522384	51522384	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:51522384C>T	ENST00000309958.3	-	2	221	c.3G>A	c.(1-3)atG>atA	p.M1I	KLK10_ENST00000358789.3_Start_Codon_SNP_p.M1I|KLK10_ENST00000391805.1_Start_Codon_SNP_p.M1I	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	1					cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGGAGCTCTCATGGCCAGGA	0.687																																						uc002puy.2		NaN																	0				lung(2)	2						c.(1-3)ATG>ATA		kallikrein-related peptidase 10 preproprotein							12.0	17.0	15.0					19																	51522384		2195	4290	6485	SO:0001582	initiator_codon_variant	5655				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51522384C>T	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.3G>A	19.37:g.51522384C>T	ENSP00000311746:p.Met1Ile					KLK10_uc002puz.2_Missense_Mutation_p.M1I|KLK10_uc002pva.2_Missense_Mutation_p.M1I	p.M1I	NM_145888	NP_665895	O43240	KLK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	2	84	-		all_neural(266;0.026)	1					A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	c.3G>A	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.952421	0.34471	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.87887	-2.31;-2.31;-2.31	2.59	2.59	0.31030	.	.	.	.	.	T	0.80793	0.4691	.	.	.	0.27545	N	0.950671	B	0.15930	0.015	B	0.16722	0.016	T	0.74281	-0.3716	8	0.87932	D	0	.	8.8728	0.35327	0.0:1.0:0.0:0.0	.	1	O43240	KLK10_HUMAN	I	1	ENSP00000375681:M1I;ENSP00000311746:M1I;ENSP00000351640:M1I	ENSP00000311746:M1I	M	-	3	0	KLK10	56214196	0.989000	0.36119	0.234000	0.24042	0.347000	0.29111	3.215000	0.51169	1.755000	0.51935	0.456000	0.33151	ATG		0.687	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2		NM_002776	Missense_Mutation	4	16	0	0	0	0.009096	0	4	16		
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:56466505G>T	ENST00000291971.3	+	3	1152	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.E361*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463																																						uc002qmh.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1081-1083)GAA>TAA		NLR family, pyrin domain containing 8							73.0	72.0	72.0					19																	56466505		2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56466505G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1081G>T	19.37:g.56466505G>T	ENSP00000291971:p.Glu361*					NLRP8_uc010etg.2_Nonsense_Mutation_p.E361*	p.E361*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1152	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	361			NACHT.		Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.1081G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762004	0.69763	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	0.99	0.19807	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.329	0.11053	0.2016:0.0:0.7984:0.0	.	.	.	.	X	361	.	ENSP00000291971:E361X	E	+	1	0	NLRP8	61158317	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.244000	0.18124	0.419000	0.25927	0.514000	0.50259	GAA		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811		25	56	1	0	5.35356e-11	0.00278	6.27886e-11	25	56		
ATRAID	51374	broad.mit.edu	37	2	27439745	27439745	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:27439745C>T	ENST00000606999.1	+	7	677	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Silent_p.L149L|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000380171.3_Silent_p.L262L	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	207					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CTTCGGGATTCTGGGAGCCAC	0.502																																						uc002rjf.2		NaN																	0				skin(1)	1						c.(784-786)CTG>TTG		apoptosis related protein 3 isoform b							151.0	126.0	134.0					2																	27439745		2203	4300	6503	SO:0001819	synonymous_variant	51374					integral to membrane|plasma membrane		g.chr2:27439745C>T	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.619C>T	2.37:g.27439745C>T						C2orf28_uc002rjg.2_Silent_p.L149L|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	p.L262L	NM_080592	NP_542159	Q6UW56	APR3_HUMAN			7	957	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		207			Helical; (Potential).		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Silent	SNP	ENST00000606999.1	37	c.784C>T																																																																																					0.502	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1		NM_016085		33	65	0	0	0	0.005524	0	33	65		
AL133247.2	0	broad.mit.edu	37	2	31754425	31754425	+	RNA	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:31754425G>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							TGAGAAAAATGCAAATGCAAG	0.458																																						uc002rnw.1		NaN																	0					0						c.(649-651)GCA>GAA		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						71.0	70.0	70.0					2																	31754425		1900	4122	6022			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754425G>T																													2.37:g.31754425G>T							p.A217E	NM_000348	NP_000339	P31213	S5A2_HUMAN			5	721	-	Acute lymphoblastic leukemia(172;0.155)		217			Helical; (Potential).			Missense_Mutation	SNP	ENST00000435713.1	37	c.650C>A																																																																																					0.458	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1				16	25	1	0	1.5739e-10	0.004007	1.8346e-10	16	25		
PCBP1	5093	broad.mit.edu	37	2	70314888	70314888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:70314888G>A	ENST00000303577.5	+	1	304	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	5					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GGATGCCGGTGTGACTGAAAG	0.587																																					Colon(85;1146 1307 3484 18706 25380)	uc002sgf.2		NaN																	0					0						c.(13-15)GTG>ATG		poly(rC) binding protein 1							71.0	74.0	73.0					2																	70314888		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70314888G>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.13G>A	2.37:g.70314888G>A	ENSP00000305556:p.Val5Met					ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	p.V5M	NM_006196	NP_006187	Q15365	PCBP1_HUMAN			1	304	+			5					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.13G>A	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636072	0.29068	.	.	ENSG00000169564	ENST00000303577	T	0.34472	1.36	4.14	3.27	0.37495	.	0.078480	0.50627	D	0.000106	T	0.28863	0.0716	L	0.33710	1.025	0.37338	D	0.910266	P	0.43607	0.812	B	0.43103	0.408	T	0.18524	-1.0334	10	0.37606	T	0.19	.	10.3016	0.43656	0.0984:0.0:0.9016:0.0	.	5	Q15365	PCBP1_HUMAN	M	5	ENSP00000305556:V5M	ENSP00000305556:V5M	V	+	1	0	PCBP1	70168392	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.586000	0.46119	1.356000	0.45884	-0.142000	0.14014	GTG		0.587	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1		NM_006196		10	63	0	0	0	0.013537	0	10	63		
ANKRD36	375248	broad.mit.edu	37	2	97854837	97854837	+	Silent	SNP	G	G	A	rs192935357		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:97854837G>A	ENST00000461153.2	+	33	2401	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ANKRD36_ENST00000420699.2_Silent_p.K719K			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	719										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTCTCAGAAGCAACCAGCCT	0.308																																						uc010yva.1		NaN																	0					0						c.(2155-2157)AAG>AAA		ankyrin repeat domain 36							126.0	70.0	97.0					2																	97854837		665	727	1392	SO:0001819	synonymous_variant	375248							g.chr2:97854837G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2157G>A	2.37:g.97854837G>A						ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Intron|ANKRD36_uc002sxq.1_Intron	p.K719K	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			33	2401	+			719					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.2157G>A	CCDS54379.1																																																																																				0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				3	13	0	0	0	0.004672	0	3	13		
DNAH7	56171	broad.mit.edu	37	2	196664028	196664028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:196664028C>T	ENST00000312428.6	-	55	10445	c.10345G>A	c.(10345-10347)Gat>Aat	p.D3449N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3449	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCTGGTCATCAGCAAATTTT	0.388																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(10345-10347)GAT>AAT		dynein, axonemal, heavy chain 7							121.0	120.0	120.0					2																	196664028		1875	4116	5991	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664028C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10345G>A	2.37:g.196664028C>T	ENSP00000311273:p.Asp3449Asn						p.D3449N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			55	10446	-			3449			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10345G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304159	0.60305	.	.	ENSG00000118997	ENST00000312428	T	0.08193	3.12	5.2	5.2	0.72013	Dynein heavy chain (1);	0.049480	0.85682	D	0.000000	T	0.24236	0.0587	M	0.73319	2.225	0.80722	D	1	B	0.29378	0.243	P	0.46685	0.524	T	0.01762	-1.1279	10	0.41790	T	0.15	.	18.5138	0.90928	0.0:1.0:0.0:0.0	.	3449	Q8WXX0	DYH7_HUMAN	N	3449	ENSP00000311273:D3449N	ENSP00000311273:D3449N	D	-	1	0	DNAH7	196372273	1.000000	0.71417	0.987000	0.45799	0.838000	0.47535	4.873000	0.63057	2.688000	0.91661	0.650000	0.86243	GAT		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		21	90	0	0	0	0.012319	0	21	90		
SPEG	10290	broad.mit.edu	37	2	220337647	220337647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:220337647G>A	ENST00000312358.7	+	16	4108	c.3976G>A	c.(3976-3978)Gtg>Atg	p.V1326M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1326	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCACCAGGTGCTGGGCTC	0.662																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3976-3978)GTG>ATG		SPEG complex locus							36.0	40.0	39.0					2																	220337647		2031	4179	6210	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337647G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3976G>A	2.37:g.220337647G>A	ENSP00000311684:p.Val1326Met						p.V1326M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	3976	+		Renal(207;0.0183)	1326			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3976G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683407	0.47991	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.54279	0.58	5.11	5.11	0.69529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.36134	N	0.002779	T	0.60521	0.2275	L	0.45137	1.4	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.63571	-0.6607	10	0.62326	D	0.03	.	16.3445	0.83118	0.0:0.0:1.0:0.0	.	1326	Q15772	SPEG_HUMAN	M	1326	ENSP00000311684:V1326M	ENSP00000265327:V1326M	V	+	1	0	SPEG	220045891	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.805000	0.47939	2.375000	0.81037	0.561000	0.74099	GTG		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		21	15	0	0	0	0.00278	0	21	15		
FARSB	10056	broad.mit.edu	37	2	223464733	223464733	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:223464733A>G	ENST00000281828.6	-	16	1795	c.1532T>C	c.(1531-1533)aTt>aCt	p.I511T	FARSB_ENST00000536361.1_Missense_Mutation_p.I412T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	511					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CAGCCCATGAATGATCTCAAA	0.433																																						uc002vne.1		NaN																	0				ovary(1)	1						c.(1531-1533)ATT>ACT		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						162.0	148.0	153.0					2																	223464733		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223464733A>G	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1532T>C	2.37:g.223464733A>G	ENSP00000281828:p.Ile511Thr					FARSB_uc010zlq.1_Missense_Mutation_p.I531T|FARSB_uc002vnf.1_Missense_Mutation_p.I412T	p.I511T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	16	1567	-		Renal(207;0.0183)	511					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.1532T>C	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713484	0.68730	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83774	0.5327	M	0.89095	3.005	0.80722	D	1	D;D	0.67145	0.996;0.981	D;P	0.67382	0.951;0.888	D	0.86805	0.1994	9	0.62326	D	0.03	-11.1603	15.8277	0.78727	1.0:0.0:0.0:0.0	.	511;511	A8K666;Q9NSD9	.;SYFB_HUMAN	T	511;412	.	ENSP00000281828:I511T	I	-	2	0	FARSB	223172977	1.000000	0.71417	0.994000	0.49952	0.601000	0.36947	8.658000	0.91110	2.144000	0.66660	0.533000	0.62120	ATT		0.433	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2		NM_005687		24	67	0	0	0	0.00278	0	24	67		
C20orf141	128653	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:2795885C>T	ENST00000380589.4	+	1	229	c.55C>T	c.(55-57)Cct>Tct	p.P19S	TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000554164.1_Missense_Mutation_p.P19S|C20orf141_ENST00000603872.1_Missense_Mutation_p.P19S|TMEM239_ENST00000380593.4_Missense_Mutation_p.P19S|TMEM239_ENST00000361033.1_5'Flank	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	19						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GATCCCAGTTCCTCCAAGGGG	0.617																																						uc010gat.2		NaN																	0					0						c.(55-57)CCT>TCT		hypothetical protein LOC128653							83.0	91.0	88.0					20																	2795885		2203	4300	6503	SO:0001583	missense	128653					integral to membrane		g.chr20:2795885C>T		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.55C>T	20.37:g.2795885C>T	ENSP00000369963:p.Pro19Ser					C20orf141_uc002wgv.1_Missense_Mutation_p.P19S|C20orf141_uc002wgw.2_Missense_Mutation_p.P19S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	p.P19S	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN			2	138	+			19						Missense_Mutation	SNP	ENST00000380589.4	37	c.55C>T	CCDS13034.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092764	0.20471	.	.	ENSG00000198326;ENSG00000241690;ENSG00000258713	ENST00000554164;ENST00000380593;ENST00000380589	.	.	.	4.26	-0.104	0.13605	.	0.936948	0.08756	N	0.898435	T	0.27027	0.0662	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.17098	0.017;0.005	T	0.27088	-1.0084	9	0.23891	T	0.37	0.15	7.1033	0.25351	0.0:0.5972:0.0:0.4028	.	19;19	Q9NUB4;Q6ZPB1	CT141_HUMAN;.	S	19	.	ENSP00000369963:P19S	P	+	1	0	C20orf141;RP5-860F19.6;AL035460.3	2743885	.	.	0.000000	0.03702	0.053000	0.15095	.	.	-0.065000	0.13021	-0.251000	0.11542	CCT		0.617	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2		NM_080739		9	156	0	0	0	0.004482	0	9	156		
ZHX3	23051	broad.mit.edu	37	20	39833262	39833262	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:39833262C>T	ENST00000309060.3	-	4	710	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ZHX3_ENST00000544979.2_Missense_Mutation_p.E99K|ZHX3_ENST00000560361.1_Missense_Mutation_p.E99K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E99K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E99K|ZHX3_ENST00000558993.1_Missense_Mutation_p.E99K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E99K|ZHX3_ENST00000557816.1_Missense_Mutation_p.E99K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	99	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGTGTGCTCTGAGTTCATA	0.443																																						uc002xjs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(295-297)GAG>AAG		zinc fingers and homeoboxes 3							147.0	139.0	142.0					20																	39833262		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833262C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.295G>A	20.37:g.39833262C>T	ENSP00000312222:p.Glu99Lys					ZHX3_uc002xjq.1_Missense_Mutation_p.E99K|ZHX3_uc002xjr.1_Missense_Mutation_p.E99K|ZHX3_uc002xjt.1_Missense_Mutation_p.E99K|ZHX3_uc002xju.1_Missense_Mutation_p.E99K|ZHX3_uc002xjv.1_Missense_Mutation_p.E99K|ZHX3_uc002xjw.1_Missense_Mutation_p.E99K|ZHX3_uc010ggg.1_Missense_Mutation_p.E99K	p.E99K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	673	-		Myeloproliferative disorder(115;0.00425)	99			Required for nuclear localization.|C2H2-type 1.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.295G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304510	0.60305	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740	T;T;T;T;T	0.30448	1.53;2.91;2.91;2.7;1.53	6.07	5.13	0.70059	Zinc finger, C2H2-like (1);	0.209946	0.49916	N	0.000139	T	0.28665	0.0710	L	0.50919	1.6	0.35248	D	0.778419	B;B;B;B	0.18863	0.001;0.001;0.031;0.0	B;B;B;B	0.17722	0.005;0.005;0.019;0.004	T	0.29181	-1.0020	10	0.38643	T	0.18	-16.2083	11.4117	0.49929	0.0:0.8628:0.0:0.1372	.	99;99;99;99	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	K	99	ENSP00000312222:E99K;ENSP00000362360:E99K;ENSP00000442290:E99K;ENSP00000443783:E99K;ENSP00000415498:E99K	ENSP00000312222:E99K	E	-	1	0	ZHX3	39266676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.688000	0.46984	1.578000	0.49821	0.655000	0.94253	GAG		0.443	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035		5	136	0	0	0	0.001168	0	5	136		
COL6A1	1291	broad.mit.edu	37	21	47423837	47423837	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr21:47423837C>T	ENST00000361866.3	+	35	3111	c.2997C>T	c.(2995-2997)ggC>ggT	p.G999G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	999	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCTACGGCGAGAGCCACC	0.667																																						uc002zhu.1		NaN																	0				ovary(1)	1						c.(2995-2997)GGC>GGT		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						60.0	60.0	60.0					21																	47423837		2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423837C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2997C>T	21.37:g.47423837C>T						COL6A1_uc010gqd.1_Silent_p.G330G|COL6A1_uc002zhv.1_Silent_p.G330G|COL6A1_uc002zhw.1_Silent_p.G93G	p.G999G	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	3099	+	all_hematologic(128;0.24)		999			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2997C>T	CCDS13727.1																																																																																				0.667	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1		NM_001848		11	102	0	0	0	0.010729	0	11	102		
CNTN4	152330	broad.mit.edu	37	3	3078912	3078912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:3078912G>C	ENST00000397461.1	+	17	2376	c.1992G>C	c.(1990-1992)ttG>ttC	p.L664F	CNTN4_ENST00000358480.3_Missense_Mutation_p.L445F|CNTN4_ENST00000397459.2_Missense_Mutation_p.L336F|CNTN4_ENST00000448906.2_Missense_Mutation_p.L336F|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.L664F|CNTN4_ENST00000418658.1_Missense_Mutation_p.L664F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	664	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGTGGGTTTGAACCCTTGGG	0.502																																						uc003bpc.2		NaN																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1990-1992)TTG>TTC		contactin 4 isoform a precursor							171.0	171.0	171.0					3																	3078912		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078912G>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1992G>C	3.37:g.3078912G>C	ENSP00000380602:p.Leu664Phe					CNTN4_uc003bpb.1_Missense_Mutation_p.L335F|CNTN4_uc003bpd.1_Missense_Mutation_p.L664F|CNTN4_uc003bpe.2_Missense_Mutation_p.L336F|CNTN4_uc003bpf.2_Missense_Mutation_p.L335F|CNTN4_uc003bpg.2_5'Flank	p.L664F	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2213	+		Ovarian(110;0.156)	664			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1992G>C	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461889	0.63513	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.48	3.68	0.42216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.95059	0.8400	H	0.99475	4.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94114	0.7373	10	0.87932	D	0	.	7.6784	0.28499	0.2009:0.1197:0.6794:0.0	.	663;664;664	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	F	664;664;664;445;336;336	ENSP00000396010:L664F;ENSP00000380602:L664F;ENSP00000413642:L664F;ENSP00000351267:L445F;ENSP00000380600:L336F;ENSP00000392077:L336F	ENSP00000351267:L445F	L	+	3	2	CNTN4	3053912	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.838000	0.39211	1.318000	0.45170	-0.140000	0.14226	TTG		0.502	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2				12	293	0	0	0	0.010729	0	12	293		
LMCD1	29995	broad.mit.edu	37	3	8590590	8590590	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:8590590G>A	ENST00000157600.3	+	4	955		c.e4+1		LMCD1_ENST00000535732.1_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Splice_Site	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGTGGAATACGTAAGTTTCTC	0.572																																						uc003bqq.2		NaN																	0				ovary(1)	1						c.e4+1		LIM and cysteine-rich domains 1							22.0	15.0	17.0					3																	8590590		2200	4293	6493	SO:0001630	splice_region_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590590G>A	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.723+1G>A	3.37:g.8590590G>A						LMCD1_uc011atd.1_Splice_Site_p.Y168_splice|LMCD1_uc011ate.1_Splice_Site_p.Y129_splice|LMCD1_uc011atf.1_Splice_Site_p.Y168_splice	p.Y241_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	837	+								B4DG80	Splice_Site	SNP	ENST00000157600.3	37	c.723_splice	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513777	0.44763	.	.	ENSG00000071282	ENST00000157600;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4205	0.83757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMCD1	8565590	1.000000	0.71417	0.989000	0.46669	0.384000	0.30261	6.454000	0.73493	2.657000	0.90304	0.655000	0.94253	.		0.572	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1		NM_014583	Intron	6	10	0	0	0	0.001168	0	6	10		
RBMS3	27303	broad.mit.edu	37	3	30032585	30032585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:30032585G>A	ENST00000383767.2	+	14	1528	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	RBMS3_ENST00000434693.2_Missense_Mutation_p.D397N|RBMS3_ENST00000452462.1_Missense_Mutation_p.D382N|RBMS3_ENST00000273139.9_Missense_Mutation_p.D382N|RBMS3_ENST00000396583.3_Missense_Mutation_p.D395N|RBMS3_ENST00000456853.1_Missense_Mutation_p.D395N|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Missense_Mutation_p.D380N			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	398					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGTTGTTGCTGATACCTCTCC	0.488																																						uc003cel.2		NaN																	0				central_nervous_system(1)	1						c.(1192-1194)GAT>AAT		RNA binding motif, single stranded interacting							201.0	168.0	179.0					3																	30032585		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032585G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1192G>A	3.37:g.30032585G>A	ENSP00000373277:p.Asp398Asn					RBMS3_uc003cek.2_Missense_Mutation_p.D382N|RBMS3_uc010hfq.2_Missense_Mutation_p.D395N|RBMS3_uc003cem.2_Missense_Mutation_p.D380N|RBMS3_uc010hfr.2_Missense_Mutation_p.D382N	p.D398N	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			14	1422	+		Ovarian(412;0.0956)	398					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1192G>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620185	0.66787	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.26223	1.76;1.75;1.77;1.75;1.93;1.77;1.75	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.58432	D	0.999991	B;B;B;B	0.17038	0.013;0.02;0.015;0.009	B;B;B;B	0.18871	0.006;0.023;0.015;0.007	T	0.10800	-1.0614	9	.	.	.	.	18.9853	0.92767	0.0:0.0:1.0:0.0	.	382;395;380;398	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	N	397;395;398;382;380;382;395	ENSP00000395592:D397N;ENSP00000379828:D395N;ENSP00000373277:D398N;ENSP00000273139:D382N;ENSP00000373276:D380N;ENSP00000397926:D382N;ENSP00000400519:D395N	.	D	+	1	0	RBMS3	30007589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.950000	0.93019	2.469000	0.83416	0.655000	0.94253	GAT		0.488	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1		NM_001003792		4	63	0	0	0	0.009096	0	4	63		
ADAMTS9	56999	broad.mit.edu	37	3	64589991	64589991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:64589991G>T	ENST00000498707.1	-	24	3833	c.3491C>A	c.(3490-3492)tCa>tAa	p.S1164*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.S1136*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1164	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGATGACATGATGGTAATTC	0.458																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(3490-3492)TCA>TAA		ADAM metallopeptidase with thrombospondin type 1							84.0	85.0	85.0					3																	64589991		2203	4300	6503	SO:0001587	stop_gained	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64589991G>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3491C>A	3.37:g.64589991G>T	ENSP00000418735:p.Ser1164*					ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.S1136*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.S993*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.S75*	p.S1164*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	24	3523	-		Lung NSC(201;0.00682)	1164			TSP type-1 6.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	ENST00000498707.1	37	c.3491C>A	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.697833|5.697833	0.96802|0.96802	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.566309	.|0.18188	.|N	.|0.148916	T|.	0.35189|.	0.0923|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12319|.	-1.0552|.	4|.	.|0.02654	.|T	.|1	.|.	13.5348|13.5348	0.61641|0.61641	0.0779:0.0:0.9221:0.0|0.0779:0.0:0.9221:0.0	.|.	.|.	.|.	.|.	N|X	220|1136;1164	.|.	.|ENSP00000295903:S1136X	H|S	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64565031|64565031	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.917000|0.917000	0.54804|0.54804	5.367000|5.367000	0.66127|0.66127	2.605000|2.605000	0.88082|0.88082	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				16	73	1	0	4.96729e-08	0.008871	5.65141e-08	16	73		
NEK11	79858	broad.mit.edu	37	3	130828651	130828651	+	Missense_Mutation	SNP	G	G	T	rs200944744		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:130828651G>T	ENST00000510769.1	+	4	594	c.341G>T	c.(340-342)cGa>cTa	p.R114L	NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Missense_Mutation_p.R114L|NEK11_ENST00000356918.4_Missense_Mutation_p.R114L|AC121332.1_ENST00000390784.1_RNA|NEK11_ENST00000507910.1_Missense_Mutation_p.R114L|NEK11_ENST00000510688.1_Missense_Mutation_p.R114L|NEK11_ENST00000383366.4_Missense_Mutation_p.R114L|NEK11_ENST00000508196.1_Missense_Mutation_p.R114L|NEK11_ENST00000511262.1_Missense_Mutation_p.R114L					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTCAGGGCCGAGATCTGGAC	0.333																																						uc003eny.2		NaN																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(340-342)CGA>CTA		NIMA-related kinase 11 isoform 1							69.0	76.0	74.0					3																	130828651		2202	4299	6501	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130828651G>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.341G>T	3.37:g.130828651G>T	ENSP00000421549:p.Arg114Leu					NEK11_uc003enx.2_Missense_Mutation_p.R114L|NEK11_uc003eoa.2_Missense_Mutation_p.R114L|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.R114L|NEK11_uc003enw.1_Missense_Mutation_p.R114L|NEK11_uc011blm.1_Missense_Mutation_p.R114L|NEK11_uc010hto.1_5'UTR	p.R114L	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			5	667	+			114			Protein kinase.			Missense_Mutation	SNP	ENST00000510769.1	37	c.341G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.795074	0.97845	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.88	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.345972	0.20940	N	0.082926	T	0.48205	0.1487	N	0.21545	0.675	0.80722	D	1	P;D;P;D;P	0.65815	0.955;0.971;0.92;0.995;0.92	P;P;P;P;P	0.62435	0.689;0.757;0.758;0.902;0.501	T	0.52668	-0.8545	10	0.87932	D	0	.	14.1608	0.65446	0.0732:0.0:0.9268:0.0	.	114;114;114;114;114	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	L	114	ENSP00000421549:R114L;ENSP00000397180:R114L;ENSP00000349389:R114L;ENSP00000423458:R114L;ENSP00000425114:R114L;ENSP00000372857:R114L;ENSP00000426662:R114L;ENSP00000421851:R114L	ENSP00000349389:R114L	R	+	2	0	NEK11	132311341	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	5.212000	0.65225	1.495000	0.48549	0.643000	0.83706	CGA		0.333	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1		NM_024800		12	96	1	0	7.03913e-09	0.013537	8.10566e-09	12	96		
SMC4	10051	broad.mit.edu	37	3	160137215	160137215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:160137215C>T	ENST00000357388.3	+	12	2192	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	SMC4_ENST00000462787.1_Nonsense_Mutation_p.Q581*|SMC4_ENST00000344722.5_Nonsense_Mutation_p.Q581*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.Q556*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.Q581*|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	581					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATCTCTTTCAAAAAGTTGA	0.323																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(1741-1743)CAA>TAA		SMC4 structural maintenance of chromosomes							48.0	52.0	51.0					3																	160137215		2201	4298	6499	SO:0001587	stop_gained	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137215C>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1741C>T	3.37:g.160137215C>T	ENSP00000349961:p.Gln581*					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Nonsense_Mutation_p.Q345*|SMC4_uc003fdi.2_Nonsense_Mutation_p.Q556*|SMC4_uc003fdj.2_Nonsense_Mutation_p.Q581*|SMC4_uc010hwd.2_Nonsense_Mutation_p.Q581*|SMC4_uc003fdl.2_Nonsense_Mutation_p.Q284*	p.Q581*	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1854	+			581			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	ENST00000357388.3	37	c.1741C>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	40	8.399664	0.98794	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	.	.	.	6.04	6.04	0.98038	.	0.146151	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-18.4178	17.4774	0.87662	0.0:0.8763:0.1237:0.0	.	.	.	.	X	581;581;556;581;581;175	.	ENSP00000341382:Q581X	Q	+	1	0	SMC4	161619909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.624000	0.61254	2.873000	0.98535	0.563000	0.77884	CAA		0.323	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				5	70	0	0	0	0.001168	0	5	70		
OTOP1	133060	broad.mit.edu	37	4	4190623	4190623	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:4190623G>A	ENST00000296358.4	-	6	1770	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAATTATCCAGGGTTCAAAGC	0.463																																						uc003ghp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1744-1746)CCC>CCT		otopetrin 1							64.0	68.0	67.0					4																	4190623		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190623G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1746C>T	4.37:g.4190623G>A							p.P582P	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	1776	-			582			Helical; (Potential).		A1L476	Silent	SNP	ENST00000296358.4	37	c.1746C>T	CCDS3372.1																																																																																				0.463	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		16	121	0	0	0	0.008361	0	16	121		
ATP10D	57205	broad.mit.edu	37	4	47584075	47584075	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:47584075G>A	ENST00000273859.3	+	21	4016	c.3747G>A	c.(3745-3747)aaG>aaA	p.K1249K	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1249					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGAAAGCAAGAGTTTGGTGA	0.448																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3745-3747)AAG>AAA		ATPase, class V, type 10D							187.0	173.0	177.0					4																	47584075		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47584075G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3747G>A	4.37:g.47584075G>A						ATP10D_uc003gxl.1_Silent_p.K497K	p.K1249K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			21	3911	+			1249			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.3747G>A	CCDS3476.1																																																																																				0.448	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		16	125	0	0	0	0.00499	0	16	125		
LRBA	987	broad.mit.edu	37	4	151729481	151729481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:151729481G>C	ENST00000357115.3	-	32	5618	c.5375C>G	c.(5374-5376)tCa>tGa	p.S1792*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.S1792*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.S1792*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S1792*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1792						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCATATTTGAAACCGGATC	0.303																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(5374-5376)TCA>TGA		LPS-responsive vesicle trafficking, beach and							95.0	97.0	97.0					4																	151729481		2203	4295	6498	SO:0001587	stop_gained	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151729481G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5375C>G	4.37:g.151729481G>C	ENSP00000349629:p.Ser1792*					LRBA_uc003ilt.3_Nonsense_Mutation_p.S451*|LRBA_uc003ilu.3_Nonsense_Mutation_p.S1792*	p.S1792*	NM_006726	NP_006717	P50851	LRBA_HUMAN			32	5849	-	all_hematologic(180;0.151)		1792					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	c.5375C>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.183557|15.183557	0.99825|0.99825	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.881895	.|0.10015	.|N	.|0.726700	T|.	0.74619|.	0.3740|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75439|.	-0.3317|.	3|.	.|0.44086	.|T	.|0.13	.|.	18.401|18.401	0.90516|0.90516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	445|1792	.|.	.|ENSP00000349629:S1792X	Q|S	-|-	1|2	0|0	LRBA|LRBA	151948931|151948931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	5.214000|5.214000	0.65236|0.65236	2.350000|2.350000	0.79820|0.79820	0.585000|0.585000	0.79938|0.79938	CAA|TCA		0.303	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				18	50	0	0	0	0.007413	0	18	50		
SH3D19	152503	broad.mit.edu	37	4	152065413	152065413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152065413C>T	ENST00000409252.2	-	11	1977	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000304527.4_Missense_Mutation_p.E424K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	424	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACAATATCTTCATTGGCAATT	0.363																																						uc010ipl.1		NaN																	0				ovary(1)|skin(1)	2						c.(1270-1272)GAA>AAA		SH3 domain containing 19 isoform a							155.0	163.0	160.0					4																	152065413		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152065413C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1270G>A	4.37:g.152065413C>T	ENSP00000386848:p.Glu424Lys					SH3D19_uc003imb.2_Intron|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Intron|SH3D19_uc010ipm.2_Intron	p.E424K	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			12	2360	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	424			SH3 1.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1270G>A	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524629	0.44969	.	.	ENSG00000109686	ENST00000304527;ENST00000409252	T;T	0.08984	3.03;3.03	5.91	5.91	0.95273	Src homology-3 domain (2);Variant SH3 (1);	0.150562	0.30869	N	0.008706	T	0.11495	0.0280	L	0.31294	0.92	0.80722	D	1	B	0.34241	0.444	P	0.45276	0.475	T	0.28744	-1.0034	10	0.28530	T	0.3	-28.1908	13.493	0.61407	0.0:0.9289:0.0:0.0711	.	424	Q5HYK7	SH319_HUMAN	K	424	ENSP00000302913:E424K;ENSP00000386848:E424K	ENSP00000302913:E424K	E	-	1	0	SH3D19	152284863	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	1.887000	0.39698	2.809000	0.96659	0.555000	0.69702	GAA		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3		NM_001009555		14	183	0	0	0	0.00245	0	14	183		
SH3D19	152503	broad.mit.edu	37	4	152086849	152086849	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152086849C>T	ENST00000409252.2	-	7	1402		c.e7-1		SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000409598.4_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAAAGGGATCTAATGAAAAA	0.393																																						uc010ipl.1		NaN																	0				ovary(1)|skin(1)	2						c.e8-1		SH3 domain containing 19 isoform a							183.0	157.0	166.0					4																	152086849		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152086849C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.695-1G>A	4.37:g.152086849C>T						SH3D19_uc003imb.2_Missense_Mutation_p.D10N|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Splice_Site_p.D232_splice|SH3D19_uc010ipm.2_Splice_Site_p.D232_splice	p.D232_splice	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			8	1785	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)						B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37	c.695_splice	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075509	0.55646	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000409252;ENST00000514152	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3D19	152306299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.914000	0.63348	2.865000	0.98341	0.655000	0.94253	.		0.393	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3		NM_001009555	Intron	11	87	0	0	0	0.008291	0	11	87		
CDH12	1010	broad.mit.edu	37	5	21975425	21975425	+	Missense_Mutation	SNP	C	C	A	rs556552265		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:21975425C>A	ENST00000382254.1	-	6	1387	c.301G>T	c.(301-303)Gtt>Ttt	p.V101F	CDH12_ENST00000504376.2_Missense_Mutation_p.V101F|CDH12_ENST00000522262.1_Missense_Mutation_p.V101F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V101I(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGGTAAAAACGGTGCCAGCG	0.488										HNSCC(59;0.17)																												uc010iuc.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(301-303)GTT>TTT		cadherin 12, type 2 preproprotein							61.0	63.0	62.0					5																	21975425		2036	3858	5894	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975425C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.301G>T	5.37:g.21975425C>A	ENSP00000371689:p.Val101Phe	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V101F|CDH12_uc003jgk.2_Missense_Mutation_p.V101F	p.V101F	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	759	-			101			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.301G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293832	0.40594	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51817	0.69;0.69;0.69	5.16	4.28	0.50868	Cadherin (5);Cadherin-like (1);	0.110368	0.64402	D	0.000007	T	0.50837	0.1639	L	0.52759	1.655	0.45995	D	0.998805	P;P	0.42456	0.592;0.78	P;B	0.50570	0.644;0.377	T	0.53070	-0.8490	10	0.66056	D	0.02	.	9.4669	0.38817	0.0:0.8414:0.0:0.1586	.	101;101	B7Z2U6;P55289	.;CAD12_HUMAN	F	101	ENSP00000423577:V101F;ENSP00000371689:V101F;ENSP00000428786:V101F	ENSP00000371689:V101F	V	-	1	0	CDH12	22011182	0.996000	0.38824	0.991000	0.47740	0.623000	0.37688	3.047000	0.49854	2.414000	0.81942	0.484000	0.47621	GTT		0.488	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1		NM_004061		8	128	1	0	5.18039e-06	0.00308	5.78985e-06	8	128		
RXFP3	51289	broad.mit.edu	37	5	33937955	33937955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:33937955G>A	ENST00000330120.3	+	1	1465	c.1110G>A	c.(1108-1110)gcG>gcA	p.A370A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	370					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGTATACGCGTTCCCTGTGA	0.617																																						uc003jic.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1108-1110)GCG>GCA		relaxin/insulin-like family peptide receptor 3							112.0	112.0	112.0					5																	33937955		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937955G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1110G>A	5.37:g.33937955G>A							p.A370A	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1467	+			370			Helical; Name=7; (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1110G>A	CCDS3900.1																																																																																				0.617	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1		NM_016568		23	104	0	0	0	0.003954	0	23	104		
GAPT	202309	broad.mit.edu	37	5	57790716	57790716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:57790716C>G	ENST00000396776.2	+	3	815	c.353C>G	c.(352-354)tCt>tGt	p.S118C	GAPT_ENST00000318469.2_Missense_Mutation_p.S118C	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	118					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						ACAGGGCAGTCTAATTTCGAG	0.398																																						uc003jro.1		NaN																	0					0						c.(352-354)TCT>TGT		GRB2-binding adaptor protein, transmembrane							81.0	85.0	84.0					5																	57790716		2203	4300	6503	SO:0001583	missense	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790716C>G	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.353C>G	5.37:g.57790716C>G	ENSP00000379997:p.Ser118Cys						p.S118C	NM_152687	NP_689900	Q8N292	GAPT_HUMAN			3	747	+			118						Missense_Mutation	SNP	ENST00000396776.2	37	c.353C>G	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172089	0.21704	.	.	ENSG00000175857	ENST00000396776;ENST00000318469	T;T	0.52754	0.65;0.65	5.19	-2.3	0.06785	.	1.231330	0.05658	N	0.586417	T	0.28466	0.0704	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.19946	0.027	T	0.25606	-1.0127	10	0.34782	T	0.22	0.0148	7.7217	0.28736	0.0:0.2336:0.5309:0.2356	.	118	Q8N292	GAPT_HUMAN	C	118	ENSP00000379997:S118C;ENSP00000323075:S118C	ENSP00000323075:S118C	S	+	2	0	GAPT	57826473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.077000	0.11394	-0.323000	0.08602	-0.175000	0.13238	TCT		0.398	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1		NM_152687		15	99	0	0	0	0.003163	0	15	99		
PDE4D	5144	broad.mit.edu	37	5	58270597	58270597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:58270597G>C	ENST00000340635.6	-	15	2499	c.2324C>G	c.(2323-2325)tCt>tGt	p.S775C	PDE4D_ENST00000503258.1_Missense_Mutation_p.S645C|PDE4D_ENST00000507116.1_Missense_Mutation_p.S711C|PDE4D_ENST00000405755.2_Missense_Mutation_p.S653C|PDE4D_ENST00000502484.2_Missense_Mutation_p.S714C|PDE4D_ENST00000317118.8_Missense_Mutation_p.S484C|PDE4D_ENST00000360047.5_Missense_Mutation_p.S639C|PDE4D_ENST00000358923.6_Missense_Mutation_p.S473C|PDE4D_ENST00000546160.1_Missense_Mutation_p.S714C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	775					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AATTTCAGTAGACTCTGAGTC	0.488																																						uc003jsa.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2323-2325)TCT>TGT		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						247.0	247.0	247.0					5																	58270597		1950	4152	6102	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270597G>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2324C>G	5.37:g.58270597G>C	ENSP00000345502:p.Ser775Cys					PDE4D_uc003jrx.2_Missense_Mutation_p.S639C|PDE4D_uc003jry.2_Missense_Mutation_p.S473C|PDE4D_uc003jrz.2_Missense_Mutation_p.S711C|PDE4D_uc003jsb.2_Missense_Mutation_p.S714C|PDE4D_uc003jrt.2_Missense_Mutation_p.S473C|PDE4D_uc003jru.2_Missense_Mutation_p.S551C|PDE4D_uc003jrv.2_Missense_Mutation_p.S645C|PDE4D_uc003jrw.2_Missense_Mutation_p.S653C|PDE4D_uc003jrs.2_Missense_Mutation_p.S484C	p.S775C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2496	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	775					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2324C>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908140	0.33721	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.67698	-0.27;-0.27;-0.28;-0.07;-0.07;-0.27;-0.28;-0.28;-0.28	5.22	5.22	0.72569	.	0.553031	0.20583	N	0.089489	T	0.58921	0.2156	L	0.29908	0.895	0.48511	D	0.99966	B;B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.002;0.004;0.002;0.001;0.0	B;B;B;B;B;B;B;B	0.09377	0.004;0.003;0.004;0.004;0.004;0.004;0.003;0.002	T	0.54715	-0.8252	10	0.54805	T	0.06	.	18.9581	0.92668	0.0:0.0:1.0:0.0	.	714;775;711;638;653;645;550;484	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	C	775;644;639;711;473;484;645;653;714;714	ENSP00000345502:S775C;ENSP00000353152:S639C;ENSP00000424852:S711C;ENSP00000351800:S473C;ENSP00000321739:S484C;ENSP00000425605:S645C;ENSP00000384806:S653C;ENSP00000423094:S714C;ENSP00000442734:S714C	ENSP00000321739:S484C	S	-	2	0	PDE4D	58306354	1.000000	0.71417	0.965000	0.40720	0.982000	0.71751	7.270000	0.78493	2.728000	0.93425	0.655000	0.94253	TCT		0.488	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3				6	362	0	0	0	0.001168	0	6	362		
MAST4	375449	broad.mit.edu	37	5	66459603	66459603	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:66459603G>A	ENST00000403625.2	+	29	4891	c.4596G>A	c.(4594-4596)ctG>ctA	p.L1532L	MAST4_ENST00000404260.3_Silent_p.L1535L|MAST4_ENST00000261569.7_Silent_p.L1338L|MAST4_ENST00000403666.1_Silent_p.L1343L|MAST4_ENST00000405643.1_Silent_p.L1353L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1535						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGACAAGCTGAAGGCCAAGG	0.607																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(4027-4029)CTG>CTA		microtubule associated serine/threonine kinase							16.0	19.0	18.0					5																	66459603		2001	4174	6175	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459603G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4596G>A	5.37:g.66459603G>A						MAST4_uc003juw.2_Silent_p.L1271L|MAST4_uc003jux.2_5'Flank	p.L1343L	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	4097	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1535					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.4029G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	8.631	0.893638	0.17613	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.25	2.44	0.29823	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42699	-0.9436	4	.	.	.	-14.571	5.6598	0.17662	0.216:0.2903:0.4937:0.0	.	.	.	.	K	589	.	.	E	+	1	0	MAST4	66495359	0.422000	0.25473	0.997000	0.53966	0.991000	0.79684	-0.334000	0.07883	0.339000	0.23719	0.655000	0.94253	GAA		0.607	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				3	11	0	0	0	0.004672	0	3	11		
CDK7	1022	broad.mit.edu	37	5	68548275	68548275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:68548275G>C	ENST00000256443.3	+	3	260	c.157G>C	c.(157-159)Gat>Cat	p.D53H	CDK7_ENST00000514676.1_Missense_Mutation_p.D53H|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGAAGCTAAAGATGGTAAGTA	0.264								Nucleotide excision repair (NER)																														uc003jvs.3		NaN																	0				lung(1)	1						c.(157-159)GAT>CAT	NER	cyclin-dependent kinase 7							70.0	75.0	74.0					5																	68548275		2198	4299	6497	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68548275G>C		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.157G>C	5.37:g.68548275G>C	ENSP00000256443:p.Asp53His					CDK7_uc010ixd.1_Missense_Mutation_p.D53H|CDK7_uc003jvt.3_Missense_Mutation_p.D12H|CDK7_uc003jvu.3_5'UTR	p.D53H	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	3	338	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	53			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.157G>C	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451555	0.84209	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.66099	-0.19;-0.19	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	L	0.48174	1.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	T	0.77381	-0.2609	10	0.87932	D	0	.	17.0487	0.86511	0.0:0.0:1.0:0.0	.	53;53;53	D6RIG9;D6RAD4;P50613	.;.;CDK7_HUMAN	H	53	ENSP00000256443:D53H;ENSP00000422737:D53H	ENSP00000256443:D53H	D	+	1	0	CDK7	68584031	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.302000	0.96175	2.315000	0.78130	0.561000	0.74099	GAT		0.264	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3		NM_001799		3	84	0	0	0	0.004672	0	3	84		
OTP	23440	broad.mit.edu	37	5	76932777	76932777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:76932777G>T	ENST00000306422.3	-	2	1454	c.316C>A	c.(316-318)Cgc>Agc	p.R106S	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	106					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTCCGGTGGCGCTTCTGCTTC	0.667																																						uc003kfg.2		NaN																	0				pancreas(1)	1						c.(316-318)CGC>AGC		orthopedia homeobox							87.0	92.0	91.0					5																	76932777		2203	4300	6503	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932777G>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.316C>A	5.37:g.76932777G>T	ENSP00000302814:p.Arg106Ser						p.R106S	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	464	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	106			Homeobox.			Missense_Mutation	SNP	ENST00000306422.3	37	c.316C>A	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613030	0.96637	.	.	ENSG00000171540	ENST00000306422	D	0.96940	-4.18	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	H	0.97540	4.025	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.99441	1.0938	10	0.87932	D	0	.	18.1494	0.89669	0.0:0.0:1.0:0.0	.	106	Q5XKR4	OTP_HUMAN	S	106	ENSP00000302814:R106S	ENSP00000302814:R106S	R	-	1	0	OTP	76968533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.705000	0.92388	0.655000	0.94253	CGC		0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2				76	83	1	0	9.35349e-44	0.01441	1.13195e-43	76	83		
ANKHD1	54882	broad.mit.edu	37	5	139914968	139914968	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:139914968C>G	ENST00000360839.2	+	30	7026	c.6872C>G	c.(6871-6873)tCa>tGa	p.S2291*	ANKHD1_ENST00000544120.1_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.S2291*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.S2291*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2291	Poly-Ser.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGACCCATCAGGCAGCTCC	0.473																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(6871-6873)TCA>TGA		ANKHD1-EIF4EBP3 protein							111.0	107.0	108.0					5																	139914968		2203	4300	6503	SO:0001587	stop_gained	404734					cytoplasm|nucleus	RNA binding	g.chr5:139914968C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6872C>G	5.37:g.139914968C>G	ENSP00000354085:p.Ser2291*					ANKHD1_uc003lfr.2_Nonsense_Mutation_p.S2291*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.S1030*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.S929*|ANKHD1_uc010jfl.2_Intron|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.S428*	p.S2291*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	6996	+			2291					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.6872C>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.022971|6.022971	0.97211|0.97211	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000532219;ENST00000437495	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.338031	.|0.27764	.|N	.|0.017960	T|.	0.77552|.	0.4147|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79371|.	-0.1831|.	3|.	.|0.62326	.|D	.|0.03	.|.	18.7909|18.7909	0.91974|0.91974	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	M|X	781|2291;2291;2291;947;813;2291;302	.|.	.|ENSP00000396882:S302X	I|S	+|+	3|2	3|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139895152|139895152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.332000|4.332000	0.59279|0.59279	2.677000|2.677000	0.91161|0.91161	0.462000|0.462000	0.41574|0.41574	ATC|TCA		0.473	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		10	162	0	0	0	0.013537	0	10	162		
PCDHA11	56138	broad.mit.edu	37	5	140250655	140250655	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:140250655C>T	ENST00000398640.2	+	1	1967	c.1967C>T	c.(1966-1968)cCg>cTg	p.P656L	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCGGCGCTGACG	0.677																																						uc003lia.2		NaN																	0				breast(1)	1						c.(1966-1968)CCG>CTG		protocadherin alpha 11 isoform 1 precursor							31.0	37.0	35.0					5																	140250655		2199	4297	6496	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250655C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1967C>T	5.37:g.140250655C>T	ENSP00000381636:p.Pro656Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P656L	p.P656L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2825	+			656			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1967C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563416	0.27915	.	.	ENSG00000249158	ENST00000398640	T	0.57436	0.4	4.61	3.73	0.42828	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77068	0.4076	M	0.91406	3.205	0.43421	D	0.995575	D;D	0.89917	1.0;1.0	D;D	0.77557	0.97;0.99	T	0.82637	-0.0359	9	0.87932	D	0	.	14.2284	0.65875	0.0:0.8494:0.1506:0.0	.	656;656	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	656	ENSP00000381636:P656L	ENSP00000381636:P656L	P	+	2	0	PCDHA11	140230839	0.007000	0.16637	0.015000	0.15790	0.004000	0.04260	1.619000	0.36965	0.903000	0.36546	0.561000	0.74099	CCG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		12	68	0	0	0	0.010729	0	12	68		
CSF1R	1436	broad.mit.edu	37	5	149434896	149434896	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149434896A>G	ENST00000286301.3	-	20	2849	c.2558T>C	c.(2557-2559)cTg>cCg	p.L853P		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTAGGGATTCAGCCCTGCAAA	0.507																																						uc003lrl.2		NaN																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(2557-2559)CTG>CCG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						91.0	78.0	83.0					5																	149434896		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149434896A>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2558T>C	5.37:g.149434896A>G	ENSP00000286301:p.Leu853Pro					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L853P	p.L853P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		19	2753	-			853			Protein kinase.|Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2558T>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	a	16.45	3.125499	0.56721	.	.	ENSG00000182578	ENST00000286301	D	0.82619	-1.63	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.393319	0.18570	N	0.137365	D	0.83704	0.5312	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.82072	-0.0638	10	0.42905	T	0.14	.	6.2071	0.20608	0.5823:0.2653:0.0:0.1524	.	853	P07333	CSF1R_HUMAN	P	853	ENSP00000286301:L853P	ENSP00000286301:L853P	L	-	2	0	CSF1R	149415089	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.047000	0.57383	1.904000	0.55121	0.375000	0.23000	CTG		0.507	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		3	99	0	0	0	0.004672	0	3	99		
PDGFRB	5159	broad.mit.edu	37	5	149513181	149513181	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149513181T>C	ENST00000261799.4	-	6	1371	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	301	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTTCATCCTGATGGTCATT	0.557			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NaN		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(901-903)CAG>CGG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						292.0	276.0	281.0					5																	149513181		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149513181T>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.902A>G	5.37:g.149513181T>C	ENSP00000261799:p.Gln301Arg					PDGFRB_uc010jhd.2_Missense_Mutation_p.Q140R|PDGFRB_uc011dcg.1_Missense_Mutation_p.Q301R	p.Q301R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1371	-		all_hematologic(541;0.224)	301			Extracellular (Potential).|Ig-like C2-type 3.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.902A>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	0.840	-0.742252	0.03088	.	.	ENSG00000113721	ENST00000261799	T	0.12147	2.71	6.03	0.759	0.18438	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.813914	0.10419	N	0.676990	T	0.03871	0.0109	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.46289	-0.9202	10	0.12430	T	0.62	.	6.4872	0.22095	0.0:0.3556:0.1277:0.5167	.	301;301;301	B5A957;A8KAM8;P09619	.;.;PGFRB_HUMAN	R	301	ENSP00000261799:Q301R	ENSP00000261799:Q301R	Q	-	2	0	PDGFRB	149493374	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	0.056000	0.14256	-0.148000	0.11234	0.455000	0.32223	CAG		0.557	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609		5	319	0	0	0	0.001984	0	5	319		
IL12B	3593	broad.mit.edu	37	5	158750185	158750185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:158750185C>G	ENST00000231228.2	-	3	696	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	81	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCCAAACTCTTTGACTTGG	0.517																																						uc003lxr.1		NaN																	0					0						c.(241-243)GAG>CAG		interleukin 12B precursor							95.0	87.0	90.0					5																	158750185		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158750185C>G	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.241G>C	5.37:g.158750185C>G	ENSP00000231228:p.Glu81Gln						p.E81Q	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	283	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	81			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.241G>C	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187907	0.57909	.	.	ENSG00000113302	ENST00000231228	T	0.21361	2.01	6.17	6.17	0.99709	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.046275	0.85682	D	0.000000	T	0.48370	0.1496	M	0.84683	2.71	0.52099	D	0.999941	D	0.71674	0.998	P	0.61592	0.891	T	0.41124	-0.9526	10	0.40728	T	0.16	-6.0885	16.3795	0.83443	0.0:1.0:0.0:0.0	.	81	P29460	IL12B_HUMAN	Q	81	ENSP00000231228:E81Q	ENSP00000231228:E81Q	E	-	1	0	IL12B	158682763	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.104000	0.57790	2.941000	0.99782	0.655000	0.94253	GAG		0.517	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2		NM_002187		3	61	0	0	0	0.004672	0	3	61		
TFAP2A	7020	broad.mit.edu	37	6	10410338	10410338	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:10410338C>T	ENST00000482890.1	-	3	628	c.276G>A	c.(274-276)caG>caA	p.Q92Q	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Silent_p.Q86Q|TFAP2A_ENST00000319516.4_Silent_p.Q88Q|TFAP2A_ENST00000379613.3_Silent_p.Q94Q|TFAP2A_ENST00000379604.2_Silent_p.Q92Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	92	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGCCTGGGTGCTGCGGCTGCG	0.692																																						uc003myr.2		NaN																	0				ovary(1)	1						c.(274-276)CAG>CAA		transcription factor AP-2 alpha isoform a							30.0	38.0	35.0					6																	10410338		2199	4286	6485	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410338C>T	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.276G>A	6.37:g.10410338C>T						TFAP2A_uc003myq.2_Silent_p.Q86Q|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.Q92Q|TFAP2A_uc003myt.2_Silent_p.Q88Q|TFAP2A_uc003myu.1_Silent_p.Q92Q|TFAP2A_uc003myv.1_Silent_p.Q78Q|TFAP2A_uc011dii.1_Silent_p.Q88Q|uc003myw.2_5'Flank	p.Q92Q	NM_003220	NP_003211	P05549	AP2A_HUMAN			2	528	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	92			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.276G>A	CCDS4510.1																																																																																				0.692	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		10	61	0	0	0	0.010729	0	10	61		
DDR1	780	broad.mit.edu	37	6	30862337	30862337	+	Missense_Mutation	SNP	G	G	A	rs145788270		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:30862337G>A	ENST00000324771.8	+	13	1950	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	DDR1_ENST00000452441.1_Missense_Mutation_p.D468N|DDR1_ENST00000513240.1_Missense_Mutation_p.D468N|DDR1_ENST00000376575.3_Missense_Mutation_p.D468N|DDR1_ENST00000418800.2_Missense_Mutation_p.D468N|DDR1_ENST00000508312.1_Missense_Mutation_p.D486N|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.D468N|DDR1_ENST00000376568.3_Missense_Mutation_p.D468N|DDR1_ENST00000376567.2_Missense_Mutation_p.D468N|DDR1_ENST00000376570.4_Missense_Mutation_p.D468N|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Missense_Mutation_p.D468N			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	468					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTCCCTGGGGACACTATCCT	0.627																																						uc003nrr.2		NaN																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1402-1404)GAC>AAC		discoidin domain receptor family, member 1	Imatinib(DB00619)						136.0	122.0	126.0					6																	30862337		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30862337G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1402G>A	6.37:g.30862337G>A	ENSP00000318217:p.Asp468Asn					DDR1_uc010jse.2_Missense_Mutation_p.D468N|DDR1_uc003nrq.2_Missense_Mutation_p.D468N|DDR1_uc003nrs.2_Missense_Mutation_p.D468N|DDR1_uc003nrt.2_Missense_Mutation_p.D468N|DDR1_uc011dms.1_Missense_Mutation_p.D486N|DDR1_uc003nru.2_Missense_Mutation_p.D468N|DDR1_uc003nrv.2_Missense_Mutation_p.D468N|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	p.D468N	NM_013993	NP_054699	Q08345	DDR1_HUMAN			12	1661	+			468			Cytoplasmic (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.1402G>A	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399324	0.62177	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.39	5.39	0.77823	.	0.054738	0.64402	D	0.000001	T	0.72969	0.3527	L	0.32530	0.975	0.80722	D	1	B;B;B	0.34147	0.306;0.438;0.19	B;B;B	0.43413	0.169;0.419;0.063	T	0.70182	-0.4942	10	0.16896	T	0.51	.	11.7074	0.51605	0.0:0.0:0.8235:0.1765	.	486;468;468	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	N	468;468;468;468;468;468;468;468;486;468;468	ENSP00000318217:D468N;ENSP00000407699:D468N;ENSP00000406091:D468N;ENSP00000365753:D468N;ENSP00000365759:D468N;ENSP00000365754:D468N;ENSP00000365752:D468N;ENSP00000405039:D468N;ENSP00000422442:D486N;ENSP00000365751:D468N;ENSP00000427552:D468N	ENSP00000318217:D468N	D	+	1	0	DDR1	30970316	1.000000	0.71417	0.994000	0.49952	0.873000	0.50193	3.829000	0.55760	2.534000	0.85438	0.557000	0.71058	GAC		0.627	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3		NM_013994		6	101	0	0	0	0.001168	0	6	101		
ARMC12	221481	broad.mit.edu	37	6	35716341	35716341	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:35716341C>G	ENST00000373866.3	+	6	739	c.717C>G	c.(715-717)ttC>ttG	p.F239L	ARMC12_ENST00000373869.3_Intron|ARMC12_ENST00000288065.2_Missense_Mutation_p.F266L			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	239						nucleus (GO:0005634)											TAAACCTGTTCCAGCCCACAC	0.488																																						uc003ola.2		NaN																	0				ovary(1)	1						c.(796-798)TTC>TTG		hypothetical protein LOC221481							80.0	74.0	76.0					6																	35716341		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35716341C>G	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.717C>G	6.37:g.35716341C>G	ENSP00000362973:p.Phe239Leu					C6orf81_uc003olb.1_Intron	p.F266L	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN			6	825	+			239					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.798C>G		.	.	.	.	.	.	.	.	.	.	C	13.74	2.326445	0.41197	.	.	ENSG00000157343	ENST00000288065;ENST00000373866	T;T	0.52295	0.67;0.67	4.76	2.91	0.33838	.	0.116696	0.38959	N	0.001506	T	0.15132	0.0365	L	0.32530	0.975	0.32759	N	0.505337	B	0.15930	0.015	B	0.14578	0.011	T	0.08827	-1.0703	10	0.27082	T	0.32	-18.2498	7.8592	0.29499	0.0:0.7936:0.0:0.2064	.	266	Q5T9G4-2	.	L	266;239	ENSP00000288065:F266L;ENSP00000362973:F239L	ENSP00000288065:F266L	F	+	3	2	C6orf81	35824319	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.798000	0.27014	0.397000	0.25310	0.650000	0.86243	TTC		0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2		NM_145028		6	61	0	0	0	0.001984	0	6	61		
TDRD6	221400	broad.mit.edu	37	6	46660917	46660917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:46660917G>C	ENST00000316081.6	+	1	5052	c.5052G>C	c.(5050-5052)ttG>ttC	p.L1684F	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1684F	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(5050-5052)TTG>TTC		tudor domain containing 6							37.0	40.0	39.0					6																	46660917		2203	4295	6498	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660917G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5052G>C	6.37:g.46660917G>C	ENSP00000346065:p.Leu1684Phe					TDRD6_uc010jze.2_Missense_Mutation_p.L1678F	p.L1684F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5052	+			1684					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5052G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509070	0.44660	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.22539	1.95;1.95	5.88	1.08	0.20341	.	0.653013	0.14038	N	0.345607	T	0.25975	0.0633	L	0.59436	1.845	0.37435	D	0.914209	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.07195	-1.0785	10	0.56958	D	0.05	-7.8543	9.9264	0.41494	0.4336:0.0:0.5664:0.0	.	1684;1684	F5H5M3;O60522	.;TDRD6_HUMAN	F	1684	ENSP00000443299:L1684F;ENSP00000346065:L1684F	ENSP00000346065:L1684F	L	+	3	2	TDRD6	46768876	1.000000	0.71417	0.954000	0.39281	0.404000	0.30871	1.799000	0.38824	0.246000	0.21394	0.655000	0.94253	TTG		0.303	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		5	34	0	0	0	0.000602	0	5	34		
COL19A1	1310	broad.mit.edu	37	6	70909320	70909320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:70909320G>A	ENST00000322773.4	+	49	3205	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T	COL19A1_ENST00000393344.1_Missense_Mutation_p.A657T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1035					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGAGAGGATGGCTGTATTCCT	0.413																																						uc003pfc.1		NaN																	0				ovary(2)|breast(2)	4						c.(3103-3105)GCT>ACT		alpha 1 type XIX collagen precursor							52.0	55.0	54.0					6																	70909320		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909320G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3103G>A	6.37:g.70909320G>A	ENSP00000316030:p.Ala1035Thr						p.A1035T	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3220	+			1035					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3103G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999728	0.74818	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.92199	-2.99;-2.93	5.91	5.91	0.95273	.	0.071898	0.56097	D	0.000028	D	0.94145	0.8122	M	0.64404	1.975	0.47476	D	0.999434	D	0.89917	1.0	D	0.64144	0.922	D	0.91400	0.5142	10	0.28530	T	0.3	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	1035	Q14993	COJA1_HUMAN	T	1035;657;110	ENSP00000316030:A1035T;ENSP00000377013:A657T	ENSP00000316030:A1035T	A	+	1	0	COL19A1	70966041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.047000	0.64232	2.804000	0.96469	0.650000	0.86243	GCT		0.413	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				16	38	0	0	0	0.003163	0	16	38		
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:123332247C>A	ENST00000275162.5	+	3	1842	c.507C>A	c.(505-507)ttC>ttA	p.F169L	CLVS2_ENST00000368438.1_Missense_Mutation_p.F23L	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	169	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413																																						uc003pzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(505-507)TTC>TTA		retinaldehyde binding protein 1-like 2							128.0	112.0	117.0					6																	123332247		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332247C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.507C>A	6.37:g.123332247C>A	ENSP00000275162:p.Phe169Leu						p.F169L	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			3	1376	+			169			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.507C>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600181	0.46423	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.71461	-0.57;-0.57	4.87	4.87	0.63330	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	N	0.21097	0.63	0.80722	D	1	P	0.36330	0.548	B	0.37304	0.246	T	0.41963	-0.9479	10	0.05959	T	0.93	-1.5139	11.6397	0.51224	0.0:0.9188:0.0:0.0812	.	169	Q5SYC1	CLVS2_HUMAN	L	169;23	ENSP00000275162:F169L;ENSP00000357423:F23L	ENSP00000275162:F169L	F	+	3	2	CLVS2	123373946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.118000	0.50414	2.519000	0.84933	0.585000	0.79938	TTC		0.413	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2		NM_001010852		9	58	1	0	0.000274275	0.004482	0.000302978	9	58		
LAMA2	3908	broad.mit.edu	37	6	129691064	129691064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:129691064G>A	ENST00000421865.2	+	34	4937	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1630	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCGGGCCCCAGAGAGGCTTAT	0.458																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(4888-4890)GAG>AAG		laminin alpha 2 subunit isoform a precursor							78.0	83.0	81.0					6																	129691064		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691064G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4888G>A	6.37:g.129691064G>A	ENSP00000400365:p.Glu1630Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.E1630K	p.E1630K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4993	+			1630			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4888G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093738	0.56075	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.07021	3.23	5.98	5.98	0.97165	Laminin I (1);	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	L	0.34521	1.04	0.58432	D	0.999991	D;D	0.58970	0.984;0.984	P;P	0.57324	0.818;0.798	T	0.11012	-1.0605	10	0.06494	T	0.89	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	1630;1630	A6NF00;P24043	.;LAMA2_HUMAN	K	1630	ENSP00000400365:E1630K	ENSP00000346769:E1630K	E	+	1	0	LAMA2	129732757	1.000000	0.71417	0.990000	0.47175	0.855000	0.48748	6.793000	0.75130	2.838000	0.97847	0.655000	0.94253	GAG		0.458	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				20	50	0	0	0	0.012319	0	20	50		
TAAR1	134864	broad.mit.edu	37	6	132966336	132966336	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:132966336G>T	ENST00000275216.1	-	1	806	c.807C>A	c.(805-807)atC>atA	p.I269I		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	269					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TGACTGTACAGATAAAGAAAG	0.368																																						uc003qdm.1		NaN																	0					0						c.(805-807)ATC>ATA		trace amine associated receptor 1	Amphetamine(DB00182)						85.0	76.0	79.0					6																	132966336		2202	4299	6501	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132966336G>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.807C>A	6.37:g.132966336G>T							p.I269I	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	807	-	Breast(56;0.135)		269			Helical; Name=6; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.807C>A	CCDS5158.1																																																																																				0.368	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1		NM_138327		24	33	1	0	1.64293e-13	0.00333	1.93887e-13	24	33		
MAD1L1	8379	broad.mit.edu	37	7	2259077	2259077	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:2259077C>T	ENST00000406869.1	-	6	1043	c.486G>A	c.(484-486)ctG>ctA	p.L162L	MAD1L1_ENST00000399654.2_Silent_p.L162L|MAD1L1_ENST00000402746.1_Silent_p.L70L|MAD1L1_ENST00000265854.7_Silent_p.L162L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	162					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCTCCCCTTCAGTGCGTTGA	0.602																																						uc003slh.1		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(484-486)CTG>CTA		MAD1-like 1 protein							42.0	44.0	43.0					7																	2259077		2080	4224	6304	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259077C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.486G>A	7.37:g.2259077C>T						MAD1L1_uc003slf.1_Silent_p.L162L|MAD1L1_uc003slg.1_Silent_p.L162L|MAD1L1_uc010ksh.1_Silent_p.L162L|MAD1L1_uc003sli.1_Silent_p.L70L|MAD1L1_uc010ksi.1_Silent_p.L115L|MAD1L1_uc010ksj.2_Silent_p.L162L	p.L162L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	752	-		Ovarian(82;0.0272)	162			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.486G>A	CCDS43539.1																																																																																				0.602	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550		5	26	0	0	0	0.000602	0	5	26		
CEP41	95681	broad.mit.edu	37	7	130039926	130039926	+	Missense_Mutation	SNP	C	C	G	rs563202265		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:130039926C>G	ENST00000223208.5	-	10	1197	c.927G>C	c.(925-927)aaG>aaC	p.K309N	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	309					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											AATATTCTATCTTTTTTAAGT	0.453																																						uc003vpz.2		NaN																	0					0						c.(925-927)AAG>AAC		testis specific, 14							70.0	76.0	74.0					7																	130039926		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130039926C>G	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.927G>C	7.37:g.130039926C>G	ENSP00000223208:p.Lys309Asn					TSGA14_uc003vpy.2_Missense_Mutation_p.K71N|TSGA14_uc010lmf.2_Missense_Mutation_p.K106N|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	p.K309N	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			10	974	-	Melanoma(18;0.0435)		309					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.927G>C	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779174	0.49891	.	.	ENSG00000106477	ENST00000223208	D	0.90444	-2.67	5.79	4.91	0.64330	.	0.140234	0.64402	D	0.000005	D	0.89812	0.6823	M	0.69823	2.125	0.80722	D	1	B	0.24823	0.112	B	0.26864	0.074	D	0.87826	0.2641	10	0.62326	D	0.03	-17.9919	13.5107	0.61511	0.0:0.9246:0.0:0.0754	.	309	Q9BYV8	CEP41_HUMAN	N	309	ENSP00000223208:K309N	ENSP00000223208:K309N	K	-	3	2	TSGA14	129827162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.148000	0.42235	1.448000	0.47680	0.655000	0.94253	AAG		0.453	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2		NM_018718		76	107	0	0	0	0.01441	0	76	107		
TAS2R5	54429	broad.mit.edu	37	7	141490167	141490167	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:141490167G>A	ENST00000247883.4	+	1	151	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	2					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CAGCCATGCTGAGCGCTGGCC	0.512																																						uc003vwr.1		NaN																	0					0						c.(4-6)CTG>CTA		taste receptor T2R5							63.0	66.0	65.0					7																	141490167		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490167G>A	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.6G>A	7.37:g.141490167G>A							p.L2L	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	151	+	Melanoma(164;0.0171)		2			Helical; Name=1; (Potential).		Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.6G>A	CCDS5869.1																																																																																				0.512	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1				4	112	0	0	0	0.000602	0	4	112		
TRPV5	56302	broad.mit.edu	37	7	142605800	142605800	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:142605800C>T	ENST00000265310.1	-	15	2418	c.2070G>A	c.(2068-2070)cgG>cgA	p.R690R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	690					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGACGCGGTCCGGGACAGGG	0.582																																						uc003wby.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2068-2070)CGG>CGA		transient receptor potential cation channel,							80.0	75.0	77.0					7																	142605800		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605800C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2070G>A	7.37:g.142605800C>T							p.R690R	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2334	-	Melanoma(164;0.059)		690			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.2070G>A	CCDS5875.1																																																																																				0.582	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		5	105	0	0	0	0.000602	0	5	105		
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687																																						uc003whq.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(850-852)GGC>GGT		GTPase, IMAP family member 1							9.0	10.0	10.0					7																	150417944		2000	4017	6017	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417944C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.852C>T	7.37:g.150417944C>T						GIMAP1_uc003whp.2_Silent_p.G292G	p.G284G	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	939	+			284			Helical; Anchor for type IV membrane protein; (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.852C>T	CCDS5906.1																																																																																				0.687	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2		NM_130759		4	21	0	0	0	0.009096	0	4	21		
KMT2C	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:151864343G>A	ENST00000262189.6	-	42	9856	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3213L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3213	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTTTAGCTGAAAGGGCCTT	0.443																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(9637-9639)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 3							140.0	132.0	135.0					7																	151864343		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151864343G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9638C>T	7.37:g.151864343G>A	ENSP00000262189:p.Ser3213Leu					MLL3_uc003wkz.2_Missense_Mutation_p.S2274L|MLL3_uc003wky.2_Missense_Mutation_p.S722L	p.S3213L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	42	9857	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3213			Gln-rich.|Potential.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9638C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594193	0.86953	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84800	-1.89;-1.9	5.83	5.83	0.93111	.	0.000000	0.39407	N	0.001378	D	0.87188	0.6115	N	0.14661	0.345	0.80722	D	1	D;P;D	0.89917	0.994;0.773;1.0	D;P;D	0.85130	0.983;0.841;0.997	D	0.88386	0.3005	10	0.52906	T	0.07	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	3213;2274;3213	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	3213	ENSP00000262189:S3213L;ENSP00000347325:S3213L	ENSP00000262189:S3213L	S	-	2	0	MLL3	151495276	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	9.813000	0.99286	2.761000	0.94854	0.650000	0.86243	TCA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				10	101	0	0	0	0.008291	0	10	101		
USP17L2	377630	broad.mit.edu	37	8	11996072	11996072	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:11996072C>T	ENST00000333796.3	-	1	514	c.198G>A	c.(196-198)aaG>aaA	p.K66K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	66				K -> E (in Ref. 1; AAR91701). {ECO:0000305}.	apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GAGGAAGCTTCTTCCTGGGAG	0.567																																						uc003wvc.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(196-198)AAG>AAA		deubiquitinating enzyme 3							42.0	56.0	52.0					8																	11996072		1236	2756	3992	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11996072C>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.198G>A	8.37:g.11996072C>T						FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.K66K	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	198	-			66	K -> E (in Ref. 1; AAR91701).					Silent	SNP	ENST00000333796.3	37	c.198G>A	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2		NM_201402		8	94	0	0	0	0.00308	0	8	94		
SLC7A2	6542	broad.mit.edu	37	8	17406258	17406258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:17406258C>T	ENST00000494857.1	+	5	822	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F	SLC7A2_ENST00000470360.1_Missense_Mutation_p.L242F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L242F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L242F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L202F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	202					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATTCTCGTCCTTCTGTTTGT	0.368																																						uc011kyc.1		NaN																	0				ovary(2)|skin(1)	3						c.(604-606)CTT>TTT		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						215.0	227.0	223.0					8																	17406258		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17406258C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.604C>T	8.37:g.17406258C>T	ENSP00000419140:p.Leu202Phe					SLC7A2_uc011kyd.1_Missense_Mutation_p.L242F|SLC7A2_uc011kye.1_Missense_Mutation_p.L242F|SLC7A2_uc011kyf.1_Missense_Mutation_p.L202F	p.L202F	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	773	+			202			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.604C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759405	0.89932	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	4.68	4.68	0.58851	Amino acid permease domain (1);	0.171378	0.53938	D	0.000054	D	0.96999	0.9020	M	0.92923	3.36	0.80722	D	1	D;D;P	0.76494	0.999;0.969;0.931	D;P;D	0.74023	0.982;0.851;0.961	D	0.97936	1.0323	10	0.87932	D	0	.	18.542	0.91031	0.0:1.0:0.0:0.0	.	242;242;202	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	F	202;202;242;242;242	ENSP00000419140:L202F;ENSP00000430464:L202F;ENSP00000419873:L242F;ENSP00000004531:L242F;ENSP00000381164:L242F	ENSP00000004531:L242F	L	+	1	0	SLC7A2	17450637	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.890000	0.63178	2.538000	0.85594	0.650000	0.86243	CTT		0.368	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		NM_003046		5	124	0	0	0	0.001984	0	5	124		
NAT1	9	broad.mit.edu	37	8	18079981	18079981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:18079981A>G	ENST00000517492.1	+	3	1063	c.425A>G	c.(424-426)gAt>gGt	p.D142G	NAT1_ENST00000307719.4_Missense_Mutation_p.D142G|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.D142G|NAT1_ENST00000541942.1_Missense_Mutation_p.D142G|NAT1_ENST00000539092.1_Missense_Mutation_p.D142G|NAT1_ENST00000518029.1_Missense_Mutation_p.D142G|NAT1_ENST00000545197.1_Missense_Mutation_p.D204G|NAT1_ENST00000535084.1_Missense_Mutation_p.D142G			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	146					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TCTGGGAAGGATCAGCCTCAG	0.473																																						uc010ltd.2		NaN																	0					0						c.(424-426)GAT>GGT		N-acetyltransferase 1 isoform a							111.0	111.0	111.0					8																	18079981		2203	4300	6503	SO:0001583	missense	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18079981A>G	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.425A>G	8.37:g.18079981A>G	ENSP00000429407:p.Asp142Gly					NAT1_uc003wyt.2_Missense_Mutation_p.D204G|NAT1_uc003wyu.2_Missense_Mutation_p.D142G|NAT1_uc003wyv.2_Missense_Mutation_p.D142G|NAT1_uc010ltc.2_Missense_Mutation_p.D142G|NAT1_uc003wys.2_Missense_Mutation_p.D204G|NAT1_uc003wyr.2_Missense_Mutation_p.D142G|NAT1_uc003wyq.2_Missense_Mutation_p.D142G|NAT1_uc011kyl.1_Missense_Mutation_p.D142G	p.D142G	NM_001160179	NP_001153651	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	792	+			142					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	c.425A>G	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.993650	0.74703	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45	4.53	4.53	0.55603	.	0.055890	0.64402	D	0.000002	T	0.13500	0.0327	M	0.86805	2.84	0.53005	D	0.999961	D;D	0.69078	0.997;0.995	D;D	0.74348	0.983;0.97	T	0.00333	-1.1810	10	0.66056	D	0.02	.	12.1068	0.53818	1.0:0.0:0.0:0.0	.	204;142	F5H5R8;P18440	.;ARY1_HUMAN	G	142;142;204;142;142;142;142;142	ENSP00000444609:D142G;ENSP00000307218:D142G;ENSP00000443194:D204G;ENSP00000440434:D142G;ENSP00000440900:D142G;ENSP00000428270:D142G;ENSP00000429407:D142G;ENSP00000429341:D142G	ENSP00000307218:D142G	D	+	2	0	NAT1	18124261	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.890000	0.63178	1.813000	0.52934	0.377000	0.23210	GAT		0.473	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1		NM_000662		4	121	0	0	0	0.009096	0	4	121		
NRG1	3084	broad.mit.edu	37	8	32616847	32616847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:32616847C>G	ENST00000405005.3	+	10	954	c.954C>G	c.(952-954)atC>atG	p.I318M	NRG1_ENST00000287842.3_Missense_Mutation_p.I315M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.I268M|NRG1_ENST00000521670.1_Missense_Mutation_p.I318M|NRG1_ENST00000539990.1_Missense_Mutation_p.I161M|NRG1_ENST00000287845.5_Missense_Mutation_p.I289M|NRG1_ENST00000356819.4_Missense_Mutation_p.I323M|NRG1_ENST00000523079.1_Missense_Mutation_p.I315M|NRG1_ENST00000338921.4_Missense_Mutation_p.I326M			Q02297	NRG1_HUMAN	neuregulin 1	318					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAACGTCATCTCCAGTGAGC	0.403																																						uc003xiv.2		NaN																	0					0						c.(952-954)ATC>ATG		neuregulin 1 isoform HRG-alpha							188.0	159.0	169.0					8																	32616847		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32616847C>G	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.954C>G	8.37:g.32616847C>G	ENSP00000384620:p.Ile318Met					NRG1_uc011lbf.1_Missense_Mutation_p.I315M|NRG1_uc010lvo.2_Missense_Mutation_p.I315M|NRG1_uc003xiu.2_Missense_Mutation_p.I323M|NRG1_uc003xiw.2_Missense_Mutation_p.I315M|NRG1_uc003xit.2_Missense_Mutation_p.I318M|NRG1_uc010lvr.2_Missense_Mutation_p.I60M|NRG1_uc010lvs.2_Missense_Mutation_p.I60M|NRG1_uc010lvp.2_Missense_Mutation_p.I272M|NRG1_uc010lvq.2_Missense_Mutation_p.I255M|NRG1_uc011lbg.1_Missense_Mutation_p.I164M|NRG1_uc011lbh.1_Missense_Mutation_p.I161M|NRG1_uc003xja.2_Missense_Mutation_p.I129M	p.I318M	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	10	1471	+		Breast(100;0.203)	318			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.954C>G	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136298	0.37728	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	6.16	5.28	0.74379	Neuregulin 1-related, C-terminal (1);	0.160311	0.53938	D	0.000054	T	0.65790	0.2725	L	0.34521	1.04	0.42936	D	0.994339	D;D;D;B;P;D;B;B;P;P;D	0.76494	0.996;0.999;0.999;0.415;0.624;0.999;0.138;0.415;0.654;0.57;0.999	D;D;D;B;B;D;B;B;B;B;D	0.83275	0.996;0.986;0.992;0.274;0.395;0.992;0.033;0.274;0.377;0.274;0.986	T	0.65928	-0.6049	10	0.39692	T	0.17	-1.7527	14.0774	0.64897	0.388:0.612:0.0:0.0	.	161;164;315;289;323;314;326;315;318;323;318	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	M	285;268;391;315;326;323;318;289;315;318;318;161	ENSP00000430053:I285M;ENSP00000429582:I268M;ENSP00000429067:I391M;ENSP00000430120:I315M;ENSP00000343395:I326M;ENSP00000349275:I323M;ENSP00000287840:I318M;ENSP00000287845:I289M;ENSP00000287842:I315M;ENSP00000384620:I318M;ENSP00000428828:I318M;ENSP00000439276:I161M	ENSP00000287840:I318M	I	+	3	3	NRG1	32736389	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.543000	0.23237	1.597000	0.50072	0.650000	0.86243	ATC		0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1				17	63	0	0	0	0.00499	0	17	63		
PI15	51050	broad.mit.edu	37	8	75757469	75757469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:75757469G>A	ENST00000260113.2	+	4	678	c.499G>A	c.(499-501)Ggt>Agt	p.G167S	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.G167S|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	167	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GAGATGTTTTGGTCCCATGTG	0.368																																						uc003yal.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(499-501)GGT>AGT		protease inhibitor 15 preproprotein							213.0	192.0	199.0					8																	75757469		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75757469G>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.499G>A	8.37:g.75757469G>A	ENSP00000260113:p.Gly167Ser					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.G167S	p.G167S	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		4	678	+	Breast(64;0.137)		167					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.499G>A	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940437	0.92526	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.10382	2.88;2.88	5.27	5.27	0.74061	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01242	-1.1408	10	0.35671	T	0.21	.	19.0772	0.93168	0.0:0.0:1.0:0.0	.	167	O43692	PI15_HUMAN	S	167	ENSP00000260113:G167S;ENSP00000428567:G167S	ENSP00000260113:G167S	G	+	1	0	PI15	75920024	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.263000	0.95617	2.725000	0.93324	0.557000	0.71058	GGT		0.368	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1		NM_015886		19	97	0	0	0	0.00278	0	19	97		
NBN	4683	broad.mit.edu	37	8	90993117	90993117	+	Missense_Mutation	SNP	C	C	T	rs587780096		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:90993117C>T	ENST00000265433.3	-	4	479	c.325G>A	c.(325-327)Gag>Aag	p.E109K	NBN_ENST00000409330.1_Missense_Mutation_p.E27K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	109	BRCT.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGCTCATACTCTATTCTGTAA	0.328								Homologous recombination																														uc003yej.1		NaN																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(325-327)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	nibrin							62.0	58.0	60.0					8																	90993117		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90993117C>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.325G>A	8.37:g.90993117C>T	ENSP00000265433:p.Glu109Lys					NBN_uc003yei.1_Missense_Mutation_p.E27K|NBN_uc011lgb.1_Missense_Mutation_p.E109K	p.E109K	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	435	-			109			BRCT.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.325G>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040249	0.75732	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772;ENST00000517337	T;T;T;T	0.71222	1.27;0.13;-0.55;-0.52	5.75	5.75	0.90469	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);BRCT (1);	0.156720	0.56097	D	0.000024	D	0.83096	0.5180	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83701	0.0182	10	0.87932	D	0	-15.0625	19.9462	0.97183	0.0:1.0:0.0:0.0	.	109;109	A6H8Y5;O60934	.;NBN_HUMAN	K	109;27;109;27;27	ENSP00000265433:E109K;ENSP00000386924:E27K;ENSP00000428717:E27K;ENSP00000429971:E27K	ENSP00000265433:E109K	E	-	1	0	NBN	91062293	1.000000	0.71417	0.995000	0.50966	0.594000	0.36715	4.511000	0.60462	2.717000	0.92951	0.585000	0.79938	GAG		0.328	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688		5	20	0	0	0	0.000602	0	5	20		
LRP12	29967	broad.mit.edu	37	8	105503599	105503599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:105503599C>T	ENST00000276654.5	-	7	1990	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	LRP12_ENST00000424843.2_Missense_Mutation_p.V609I|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	628					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGGGACAACCTCATCTCCA	0.428																																						uc003yma.2		NaN																	0					0						c.(1882-1884)GTT>ATT		low density lipoprotein-related protein 12							80.0	77.0	78.0					8																	105503599		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503599C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1882G>A	8.37:g.105503599C>T	ENSP00000276654:p.Val628Ile					LRP12_uc003ymb.2_Missense_Mutation_p.V609I|LRP12_uc003ylz.2_Missense_Mutation_p.V34I	p.V628I	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1977	-			628			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1882G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462814	0.43736	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.83591	-1.74;-1.66	5.29	5.29	0.74685	.	0.109057	0.64402	D	0.000008	T	0.68705	0.3030	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62369	-0.6869	10	0.22109	T	0.4	-21.5745	12.393	0.55368	0.0:0.9212:0.0:0.0788	.	609;628	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	I	609;628	ENSP00000399148:V609I;ENSP00000276654:V628I	ENSP00000276654:V628I	V	-	1	0	LRP12	105572775	1.000000	0.71417	0.997000	0.53966	0.822000	0.46500	3.353000	0.52247	2.857000	0.98124	0.650000	0.86243	GTT		0.428	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		14	67	0	0	0	0.003163	0	14	67		
ZFPM2	23414	broad.mit.edu	37	8	106573710	106573710	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:106573710G>A	ENST00000407775.2	+	4	670		c.e4+1		ZFPM2_ENST00000517361.1_Splice_Site|ZFPM2_ENST00000520492.1_Splice_Site	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2						blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAATTCTTTGGTATGTGGATA	0.408																																						uc003ymd.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.e4+1		zinc finger protein, multitype 2							45.0	44.0	44.0					8																	106573710		1832	4081	5913	SO:0001630	splice_region_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106573710G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.420+1G>A	8.37:g.106573710G>A							p.L140_splice	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		4	443	+								Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Splice_Site	SNP	ENST00000407775.2	37	c.420_splice	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702887	0.68501	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000520027;ENST00000517361	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFPM2	106642886	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.539000	0.82063	2.795000	0.96236	0.655000	0.94253	.		0.408	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			Intron	21	16	0	0	0	0.010504	0	21	16		
FREM1	158326	broad.mit.edu	37	9	14746434	14746434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14746434C>T	ENST00000380880.3	-	35	6954	c.6171G>A	c.(6169-6171)tgG>tgA	p.W2057*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.W2057*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.W2058*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.W593*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2057					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGCTGGTGCCACCCGGCTG	0.493																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(6169-6171)TGG>TGA		FRAS1 related extracellular matrix 1 precursor							133.0	136.0	135.0					9																	14746434		1990	4160	6150	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14746434C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6171G>A	9.37:g.14746434C>T	ENSP00000370262:p.Trp2057*					FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.W593*	p.W2057*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	35	6761	-			2057					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.6171G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	52	19.548828	0.99921	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	6.03	6.03	0.97812	.	0.057615	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9347	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	2058;2057;593;2057	.	ENSP00000370262:W2057X	W	-	3	0	FREM1	14736434	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.112000	0.71547	2.868000	0.98415	0.557000	0.71058	TGG		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		4	135	0	0	0	0.009096	0	4	135		
FREM1	158326	broad.mit.edu	37	9	14808019	14808019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14808019G>A	ENST00000380880.3	-	17	3790	c.3007C>T	c.(3007-3009)Cca>Tca	p.P1003S	FREM1_ENST00000422223.2_Missense_Mutation_p.P1003S|FREM1_ENST00000380881.4_Missense_Mutation_p.P1004S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1003					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGAAGTGGAACAGATGGA	0.463																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3007-3009)CCA>TCA		FRAS1 related extracellular matrix 1 precursor							259.0	258.0	258.0					9																	14808019		2051	4196	6247	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808019G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3007C>T	9.37:g.14808019G>A	ENSP00000370262:p.Pro1003Ser					FREM1_uc010mic.2_RNA	p.P1003S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	17	3597	-			1003			CSPG 6.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3007C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886163	0.33348	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10382	2.88;2.88;2.88	5.53	5.53	0.82687	.	0.367176	0.32563	N	0.005939	T	0.15739	0.0379	M	0.76838	2.35	0.45594	D	0.998533	B	0.29085	0.232	B	0.31547	0.132	T	0.01889	-1.1253	10	0.36615	T	0.2	-8.9485	9.3927	0.38383	0.1987:0.0:0.8013:0.0	.	1003	Q5H8C1	FREM1_HUMAN	S	1004;1003;1003	ENSP00000370263:P1004S;ENSP00000412940:P1003S;ENSP00000370262:P1003S	ENSP00000370257:P1006S	P	-	1	0	FREM1	14798019	0.997000	0.39634	1.000000	0.80357	0.453000	0.32348	3.506000	0.53364	2.601000	0.87937	0.563000	0.77884	CCA		0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		20	149	0	0	0	0.008871	0	20	149		
TMEM215	401498	broad.mit.edu	37	9	32784282	32784282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:32784282G>A	ENST00000342743.5	+	2	466	c.101G>A	c.(100-102)gGg>gAg	p.G34E		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	34						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GGGATGAAAGGGGAGACTTTG	0.592																																						uc003zri.3		NaN																	0					0						c.(100-102)GGG>GAG		transmembrane protein 215							98.0	90.0	93.0					9																	32784282		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784282G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.101G>A	9.37:g.32784282G>A	ENSP00000345468:p.Gly34Glu						p.G34E	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	466	+			34					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.101G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767493	0.49574	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000002	T	0.52500	0.1738	L	0.27053	0.805	0.54753	D	0.999986	P	0.40931	0.733	B	0.43950	0.437	T	0.58891	-0.7556	9	0.87932	D	0	-14.43	16.4706	0.84111	0.0:0.0:1.0:0.0	.	34	Q68D42	TM215_HUMAN	E	34	.	ENSP00000345468:G34E	G	+	2	0	TMEM215	32774282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.480000	0.81109	2.494000	0.84150	0.462000	0.41574	GGG		0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1		NM_212558		25	64	0	0	0	0.00278	0	25	64		
NFX1	4799	broad.mit.edu	37	9	33342807	33342807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:33342807G>A	ENST00000379540.3	+	13	2241	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	NFX1_ENST00000379521.4_Missense_Mutation_p.E727K|NFX1_ENST00000318524.6_Missense_Mutation_p.E727K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	727					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCATAGGTGTGAAGAACCTTG	0.398																																						uc003zsq.2		NaN																	0				ovary(1)	1						c.(2179-2181)GAA>AAA		nuclear transcription factor, X-box binding 1							79.0	77.0	77.0					9																	33342807		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33342807G>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2179G>A	9.37:g.33342807G>A	ENSP00000368856:p.Glu727Lys					SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.E727K|NFX1_uc003zso.2_Missense_Mutation_p.E727K|NFX1_uc003zsp.1_Missense_Mutation_p.E727K|NFX1_uc010mjr.1_Missense_Mutation_p.E728K|NFX1_uc003zsr.2_Missense_Mutation_p.E728K	p.E727K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	13	2240	+			727			NF-X1-type 6.		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.2179G>A	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624923	0.87560	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.29142	1.58;1.58;1.58	5.74	5.74	0.90152	Zinc finger, NF-X1-type (2);	0.108239	0.64402	D	0.000009	T	0.45135	0.1327	M	0.69358	2.11	0.46279	D	0.998968	P;P;P;P;P	0.40794	0.724;0.619;0.47;0.565;0.729	P;B;B;B;P	0.47346	0.455;0.437;0.42;0.175;0.544	T	0.38286	-0.9668	10	0.66056	D	0.02	-7.1439	17.4341	0.87546	0.0:0.0:1.0:0.0	.	727;611;727;727;727	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	K	727	ENSP00000368856:E727K;ENSP00000368836:E727K;ENSP00000317695:E727K	ENSP00000317695:E727K	E	+	1	0	NFX1	33332807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.747000	0.68689	2.712000	0.92718	0.650000	0.86243	GAA		0.398	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1				14	29	0	0	0	0.004007	0	14	29		
ODF2	4957	broad.mit.edu	37	9	131243909	131243909	+	Silent	SNP	G	G	A	rs150687097		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:131243909G>A	ENST00000434106.3	+	9	1257	c.894G>A	c.(892-894)gcG>gcA	p.A298A	ODF2_ENST00000372791.3_Silent_p.A279A|ODF2_ENST00000351030.3_Silent_p.A293A|ODF2_ENST00000604420.1_Silent_p.A298A|ODF2_ENST00000546203.1_Silent_p.A279A|ODF2_ENST00000448249.3_Silent_p.A217A|ODF2_ENST00000444119.2_Silent_p.A274A|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000393527.3_Silent_p.A274A|ODF2_ENST00000393533.2_Silent_p.A298A|ODF2_ENST00000372814.3_Silent_p.A342A|ODF2_ENST00000372807.5_Silent_p.A293A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	298					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCTGGCGGAGGCCGACT	0.483																																						uc011mbd.1		NaN																	0				ovary(1)	1						c.(892-894)GCG>GCA		outer dense fiber of sperm tails 2 isoform 1		G	,,,,,,,,,,	0,4406		0,0,2203	92.0	85.0	87.0		879,894,651,822,1026,894,1086,894,837,969,837	-8.5	0.8	9	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ODF2	NM_001242352.1,NM_001242353.1,NM_001242354.1,NM_002540.4,NM_153432.1,NM_153433.1,NM_153435.1,NM_153436.1,NM_153437.2,NM_153439.1,NM_153440.1	,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,	293/825,298/830,217/577,274/806,342/702,298/830,362/894,298/658,279/639,323/654,279/639	131243909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131243909G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.894G>A	9.37:g.131243909G>A						ODF2_uc011maz.1_Silent_p.A298A|ODF2_uc011mba.1_Silent_p.A83A|ODF2_uc010myb.2_Silent_p.A274A|ODF2_uc011mbb.1_Silent_p.A232A|ODF2_uc011mbc.1_Silent_p.A217A|ODF2_uc004bva.2_Silent_p.A251A|ODF2_uc004bvb.2_Silent_p.A274A|ODF2_uc011mbe.1_Silent_p.A293A|ODF2_uc004bvc.2_Silent_p.A274A|ODF2_uc010myc.2_Silent_p.A241A|ODF2_uc011mbf.1_Silent_p.A279A|ODF2_uc004bvd.3_Silent_p.A298A|ODF2_uc004bve.2_Silent_p.A279A	p.A298A	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			9	1205	+			298			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.894G>A	CCDS56588.1																																																																																				0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3				5	42	0	0	0	0.000602	0	5	42		
ASMTL	8623	broad.mit.edu	37	X	1553955	1553955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:1553955G>A	ENST00000381317.3	-	5	392	c.360C>T	c.(358-360)agC>agT	p.S120S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S44S|ASMTL_ENST00000381333.4_Silent_p.S104S|ASMTL_ENST00000534940.1_Silent_p.S62S	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	120	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(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)				CTGTGAACACGCTGTGTTCTC	0.587																																						uc004cpx.1		NaN																	0					0						c.(358-360)AGC>AGT		acetylserotonin O-methyltransferase-like							175.0	185.0	182.0					X																	1553955		2108	4216	6324	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1553955G>A	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.360C>T	X.37:g.1553955G>A						ASMTL_uc011mhe.1_Silent_p.S44S|ASMTL_uc004cpy.1_Silent_p.S104S|ASMTL_uc011mhf.1_Silent_p.S62S	p.S120S	NM_004192	NP_004183	O95671	ASML_HUMAN			5	471	-		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)	120			MAF-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.360C>T	CCDS43917.1																																																																																				0.587	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192		6	96	0	0	0	0.00308	0	6	96		
ARSD	414	broad.mit.edu	37	X	2828744	2828744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:2828744C>G	ENST00000381154.1	-	7	1166	c.1091G>C	c.(1090-1092)aGa>aCa	p.R364T	ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	364					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		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)				GTGTCCATCTCTTGCCTCTAA	0.443																																						uc004cqy.2		NaN																	0					0						c.(1090-1092)AGA>ACA		arylsulfatase D isoform a precursor							324.0	255.0	279.0					X																	2828744		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2828744C>G	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1091G>C	X.37:g.2828744C>G	ENSP00000370546:p.Arg364Thr					ARSD_uc004cqz.1_Intron	p.R364T	NM_001669	NP_001660	P51689	ARSD_HUMAN			7	1167	-		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)	364					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1091G>C	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	6.390	0.440076	0.12104	.	.	ENSG00000006756	ENST00000381154	D	0.93659	-3.26	3.3	1.35	0.21983	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.913736	0.09238	U	0.829610	D	0.89451	0.6719	L	0.47190	1.495	0.09310	N	1	P	0.41188	0.741	B	0.43018	0.405	T	0.78383	-0.2225	10	0.22706	T	0.39	.	4.3331	0.11073	0.0:0.395:0.3426:0.2624	.	364	P51689	ARSD_HUMAN	T	364	ENSP00000370546:R364T	ENSP00000370546:R364T	R	-	2	0	ARSD	2838744	0.000000	0.05858	0.001000	0.08648	0.187000	0.23431	-0.143000	0.10296	0.280000	0.22209	0.431000	0.28591	AGA		0.443	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1				4	251	0	0	0	0.009096	0	4	251		
DMD	1756	broad.mit.edu	37	X	32235111	32235111	+	Silent	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:32235111T>C	ENST00000357033.4	-	44	6566	c.6360A>G	c.(6358-6360)ctA>ctG	p.L2120L	DMD_ENST00000378677.2_Silent_p.L2116L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2120					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCTTCTGTTAGCCACTGAT	0.343																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6358-6360)CTA>CTG		dystrophin Dp427m isoform							67.0	58.0	61.0					X																	32235111		2202	4299	6501	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32235111T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6360A>G	X.37:g.32235111T>C						DMD_uc004dcw.2_Silent_p.L776L|DMD_uc004dcx.2_Silent_p.L779L|DMD_uc004dcz.2_Silent_p.L1997L|DMD_uc004dcy.1_Silent_p.L2116L|DMD_uc004ddb.1_Silent_p.L2112L|DMD_uc010ngo.1_Silent_p.L29L|DMD_uc010ngn.1_Intron	p.L2120L	NM_004006	NP_003997	P11532	DMD_HUMAN			44	6604	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2120			Spectrin 15.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6360A>G	CCDS14233.1																																																																																				0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		13	19	0	0	0	0.013537	0	13	19		
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(355-357)GAG>GAT		RNA binding motif protein 10 isoform 1							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_uc004dhe.1_Missense_Mutation_p.E109D|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.E119D|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.E184D	p.E119D	NM_005676	NP_005667	P98175	RBM10_HUMAN			4	736	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		5	38	1	0	0.000602214	0.000602	0.000661392	5	38		
DGKK	139189	broad.mit.edu	37	X	50213512	50213512	+	RNA	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:50213512C>G	ENST00000376025.2	-	0	225							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGACAGGGCTCTGGTATGGGT	0.677																																						uc010njr.1		NaN																	0				ovary(1)|kidney(1)	2						c.(166-168)GAG>CAG		diacylglycerol kinase kappa							35.0	40.0	39.0					X																	50213512		1904	4105	6009			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213512C>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213512C>G							p.E56Q	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			1	226	-	Ovarian(276;0.236)		56			3.|33 X 4 AA approximate tandem repeats of E-P-A-P.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.166G>C																																																																																					0.677	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742		18	101	0	0	0	0.00499	0	18	101		
SMC1A	8243	broad.mit.edu	37	X	53436075	53436075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:53436075C>T	ENST00000322213.4	-	9	1590	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R254H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	488					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGGTCGATGCGGGCATCCCC	0.567																																						uc004dsg.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1462-1464)CGC>CAC		structural maintenance of chromosomes 1A							93.0	73.0	80.0					X																	53436075		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53436075C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1463G>A	X.37:g.53436075C>T	ENSP00000323421:p.Arg488His					SMC1A_uc011moe.1_Missense_Mutation_p.R466H|SMC1A_uc011mof.1_Missense_Mutation_p.R254H	p.R488H	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			9	1532	-			488			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1463G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601422	0.66445	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86562	-2.14;-2.14	5.28	5.28	0.74379	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	L	0.43598	1.365	0.80722	D	1	D;B;P	0.76494	0.999;0.399;0.518	D;B;B	0.78314	0.991;0.027;0.03	D	0.89195	0.3553	10	0.32370	T	0.25	.	16.9938	0.86361	0.0:1.0:0.0:0.0	.	254;466;488	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	488;254	ENSP00000323421:R488H;ENSP00000364489:R254H	ENSP00000323421:R488H	R	-	2	0	SMC1A	53452800	0.732000	0.28121	0.980000	0.43619	0.667000	0.39255	3.320000	0.51991	2.362000	0.80069	0.600000	0.82982	CGC		0.567	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		NM_006306		4	93	0	0	0	0.001168	0	4	93		
UBQLN2	29978	broad.mit.edu	37	X	56590917	56590917	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:56590917T>C	ENST00000338222.5	+	1	892	c.611T>C	c.(610-612)cTc>cCc	p.L204P		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	204					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGAGGCAGCTCATTATGGCT	0.453																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(610-612)CTG>CCG		ubiquilin 2							70.0	67.0	68.0					X																	56590917		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590917T>C	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.611T>C	X.37:g.56590917T>C	ENSP00000345195:p.Leu204Pro					UBQLN2_uc011moq.1_Missense_Mutation_p.L204P	p.L204P	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	846	+			204					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.611T>C	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174169	0.38413	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.34275	1.37	4.89	4.89	0.63831	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000082	T	0.63721	0.2535	M	0.90309	3.105	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.66847	0.947;0.947	T	0.71646	-0.4530	10	0.87932	D	0	-8.2838	11.5929	0.50955	0.0:0.0:0.0:1.0	.	204;204	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	P	204	ENSP00000345195:L204P	ENSP00000345195:L204P	L	+	2	0	UBQLN2	56607642	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.819000	0.86621	1.940000	0.56252	0.486000	0.48141	CTC		0.453	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		40	43	0	0	0	0.00623	0	40	43		
LAS1L	81887	broad.mit.edu	37	X	64749124	64749124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:64749124G>T	ENST00000374811.3	-	6	854	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	LAS1L_ENST00000312391.8_Missense_Mutation_p.L272M|LAS1L_ENST00000374804.5_Missense_Mutation_p.L230M|LAS1L_ENST00000374807.5_Missense_Mutation_p.L272M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	272					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GATACCAGCAGTTCTCGGGCT	0.522											OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dwa.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(814-816)CTG>ATG		LAS1-like							77.0	70.0	72.0					X																	64749124		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749124G>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.814C>A	X.37:g.64749124G>T	ENSP00000363944:p.Leu272Met		OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1078	LAS1L_uc004dwc.1_Missense_Mutation_p.L272M|LAS1L_uc004dwd.1_Missense_Mutation_p.L230M	p.L272M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			6	886	-			272					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.814C>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914236	0.52546	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.55	2.15	0.27550	.	0.250009	0.34133	N	0.004238	T	0.63271	0.2497	M	0.62723	1.935	0.35874	D	0.828415	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.986;0.98	T	0.67428	-0.5673	9	0.62326	D	0.03	.	6.2561	0.20874	0.126:0.173:0.7009:0.0	.	230;272;272	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	M	272;272;230;272	.	ENSP00000308649:L272M	L	-	1	2	LAS1L	64665849	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	0.749000	0.26320	0.486000	0.27676	0.600000	0.82982	CTG		0.522	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1		NM_031206		20	33	1	0	4.35082e-09	0.010504	5.04058e-09	20	33		
USP26	83844	broad.mit.edu	37	X	132160985	132160985	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:132160985C>T	ENST00000511190.1	-	6	1733	c.1264G>A	c.(1264-1266)Gct>Act	p.A422T	USP26_ENST00000406273.1_Missense_Mutation_p.A422T|USP26_ENST00000370832.1_Missense_Mutation_p.A422T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	422	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGATCATCAGCAAAAACCTGT	0.373																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NaN																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1264-1266)GCT>ACT		ubiquitin-specific protease 26							84.0	79.0	81.0					X																	132160985		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160985C>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1264G>A	X.37:g.132160985C>T	ENSP00000423390:p.Ala422Thr					USP26_uc011mvf.1_Missense_Mutation_p.A422T	p.A422T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1734	-	Acute lymphoblastic leukemia(192;0.000127)		422					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1264G>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	c	0.174	-1.068592	0.01934	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.57907	0.37;0.37;0.37	3.62	-3.26	0.05064	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.756802	0.10853	N	0.626909	T	0.44095	0.1277	L	0.41906	1.305	0.09310	N	1	P	0.44260	0.83	P	0.51701	0.677	T	0.32402	-0.9908	10	0.34782	T	0.22	-3.0783	0.4822	0.00550	0.2911:0.2133:0.2875:0.2081	.	422	Q9BXU7	UBP26_HUMAN	T	422	ENSP00000359869:A422T;ENSP00000423390:A422T;ENSP00000384360:A422T	ENSP00000359869:A422T	A	-	1	0	USP26	131988651	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.055000	0.11807	-1.005000	0.03417	-0.312000	0.09012	GCT		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907		18	70	0	0	0	0.00499	0	18	70		
TCHH	7062	broad.mit.edu	37	1	152081768	152081768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:152081768delT	ENST00000368804.1	-	2	3924	c.3925delA	c.(3925-3927)aggfs	p.R1310fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1310	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGCGCCTTTTGGCTTCC	0.547																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3925-3927)AGGfs		trichohyalin							112.0	116.0	115.0					1																	152081768		1926	4122	6048	SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081768delT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3925delA	1.37:g.152081768delT	ENSP00000357794:p.Arg1310fs					TCHH_uc009wne.1_Frame_Shift_Del_p.R1309fs	p.R1309fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3925	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1309			23 X 26 AA approximate tandem repeats.		Q5VUI3	Frame_Shift_Del	DEL	ENST00000368804.1	37	c.3925delA	CCDS41396.1																																																																																				0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		7	544	NaN	NaN	NaN	NaN	NaN	7	544	---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						uc001ffr.2		NaN																	0				large_intestine(1)	1						c.(2185-2190)CACCGG>CGG		pre-B-cell leukemia homeobox interacting protein				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del	p.H729del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2245_2247	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524		7	254	NaN	NaN	NaN	NaN	NaN	7	254	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						uc002nyw.2		NaN																	0				central_nervous_system(1)	1						c.(40-42)CTCdel		hepcidin antimicrobial peptide preproprotein																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del						p.L18del	NM_021175	NP_066998	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	111_113	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1		NM_021175		8	415	NaN	NaN	NaN	NaN	NaN	8	415	---	---
PHF7	51533	broad.mit.edu	37	3	52456270	52456291	+	Frame_Shift_Del	DEL	TCTCAGACTTATATCAGCGCTA	TCTCAGACTTATATCAGCGCTA	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA	ENST00000327906.3	+	9	1373_1394	c.713_734delTCTCAGACTTATATCAGCGCTA	c.(712-735)ttctcagacttatatcagcgctatfs	p.FSDLYQRY238fs	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	238						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCAGGGGCTTTCTCAGACTTATATCAGCGCTATCAGCACTGT	0.495																																						uc003ddy.2		NaN																	0				breast(1)	1						c.(712-735)TTCTCAGACTTATATCAGCGCTATfs		PHD finger protein 7 isoform 1																																				SO:0001589	frameshift_variant	51533					nucleus	zinc ion binding	g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.713_734delTCTCAGACTTATATCAGCGCTA	3.37:g.52456270_52456291delTCTCAGACTTATATCAGCGCTA	ENSP00000333024:p.Phe238fs					PHF7_uc003ddz.2_Intron	p.F238fs	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	9	1519_1540	+			238_245					K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3	37	c.713_734delTCTCAGACTTATATCAGCGCTA	CCDS2854.1																																																																																				0.495	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483		9	129	NaN	NaN	NaN	NaN	NaN	9	129	---	---
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:36651987_36651988insT	ENST00000405375.1	+	2	344_345	c.109_110insT	c.(109-111)ctafs	p.L37fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	37					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CTGTGATGCGCTAATGGCGGGC	0.663																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(109-111)CTAfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651987_36651988insT	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.110dupT	6.37:g.36651988_36651988dupT	ENSP00000384849:p.Leu37fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L71fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L37fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L37fs	p.L37fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	231_232	+			37			C4-type (Potential).		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.109_110insT	CCDS4824.1																																																																																				0.663	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		12	46	NaN	NaN	NaN	NaN	NaN	12	46	---	---
