#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPM1L	151742	broad.mit.edu	37	3	160786652	160786652	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:160786652T>G	ENST00000498165.1	+	4	891	c.790T>G	c.(790-792)Tct>Gct	p.S264A	PPM1L_ENST00000464260.1_Missense_Mutation_p.S85A|PPM1L_ENST00000295839.9_Missense_Mutation_p.S137A|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	264	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CCTGGCCATGTCTCGGTCCCT	0.512																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(790-792)Tct>Gct		protein phosphatase, Mg2+/Mn2+ dependent, 1L							84.0	82.0	83.0					3																	160786652		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786652T>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.790T>G	3.37:g.160786652T>G	ENSP00000417659:p.Ser264Ala					PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.S137A|PPM1L_ENST00000464260.1_Missense_Mutation_p.S85A	p.S264A	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	891	+			264			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.790T>G	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597130	0.87055	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.27104	1.69;1.69;1.69	5.27	5.27	0.74061	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.74348	0.947;0.983	T	0.53809	-0.8386	10	0.87932	D	0	.	14.354	0.66724	0.0:0.0:0.0:1.0	.	137;264	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	A	264;85;137	ENSP00000417659:S264A;ENSP00000420746:S85A;ENSP00000295839:S137A	ENSP00000295839:S137A	S	+	1	0	PPM1L	162269346	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.676000	0.84012	2.004000	0.58718	0.454000	0.30748	TCT		0.512	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		16	114	0	0	0	1	0	16	114				
DPYSL4	10570	broad.mit.edu	37	10	134006320	134006320	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:134006320C>T	ENST00000338492.4	+	3	451	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A19V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	96					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCAAGGCAGCGCTAGCAGGA	0.617																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(286-288)gCg>gTg		dihydropyrimidinase-like 4							106.0	76.0	86.0					10																	134006320		2202	4300	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006320C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.287C>T	10.37:g.134006320C>T	ENSP00000339850:p.Ala96Val					DPYSL4_ENST00000368629.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A19V|DPYSL4_ENST00000493882.1_3'UTR	p.A96V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	451	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	96					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.287C>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947208	0.73672	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.95788	-3.81;-3.81;-3.81	4.92	4.92	0.64577	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99616	1.0982	10	0.87932	D	0	-23.0869	17.9948	0.89179	0.0:1.0:0.0:0.0	.	96	O14531	DPYL4_HUMAN	V	96;19;19	ENSP00000339850:A96V;ENSP00000357618:A19V;ENSP00000357616:A19V	ENSP00000339850:A96V	A	+	2	0	DPYSL4	133856310	1.000000	0.71417	0.126000	0.21872	0.087000	0.18053	7.249000	0.78278	2.568000	0.86640	0.650000	0.86243	GCG		0.617	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			11	80	0	0	0	1	0	11	80				
TMEM132B	114795	broad.mit.edu	37	12	126138782	126138782	+	Silent	SNP	G	G	A	rs374603554		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:126138782G>A	ENST00000299308.3	+	9	2771	c.2763G>A	c.(2761-2763)gcG>gcA	p.A921A	TMEM132B_ENST00000535886.1_Silent_p.A433A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	921						integral component of membrane (GO:0016021)		p.A921A(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTGCGTGGCGTTTGCCTGGA	0.522																																						ENST00000299308.3																			1	Substitution - coding silent(1)	p.A921A(1)	breast(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2761-2763)gcG>gcA		transmembrane protein 132B		G		2,4062		0,2,2030	102.0	100.0	101.0		2763	-11.1	0.1	12		101	8,8428		0,8,4210	no	coding-synonymous	TMEM132B	NM_052907.2		0,10,6240	AA,AG,GG		0.0948,0.0492,0.08		921/1079	126138782	10,12490	2032	4218	6250	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138782G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2763G>A	12.37:g.126138782G>A						TMEM132B_ENST00000535886.1_Silent_p.A433A	p.A921A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2771	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		921					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2763G>A	CCDS41859.1																																																																																				0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		31	111	0	0	0	1	0	31	111				
KLHL4	56062	broad.mit.edu	37	X	86887360	86887360	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:86887360C>G	ENST00000373119.4	+	7	1620	c.1475C>G	c.(1474-1476)aCa>aGa	p.T492R	KLHL4_ENST00000373114.4_Missense_Mutation_p.T492R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	492						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACTTTGAATACAGTGGAATGT	0.418																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1474-1476)aCa>aGa		kelch-like family member 4							112.0	98.0	103.0					X																	86887360		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887360C>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1475C>G	X.37:g.86887360C>G	ENSP00000362211:p.Thr492Arg					KLHL4_ENST00000373114.4_Missense_Mutation_p.T492R	p.T492R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1620	+			492					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1475C>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799481	0.70567	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78924	-1.22;-1.22	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.174359	0.51477	D	0.000089	D	0.87783	0.6264	M	0.88181	2.935	0.43099	D	0.994781	P;P	0.48350	0.909;0.796	P;P	0.61658	0.892;0.826	D	0.89643	0.3864	10	0.87932	D	0	.	10.3974	0.44209	0.0:0.8977:0.0:0.1023	.	492;492	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	492	ENSP00000362211:T492R;ENSP00000362206:T492R	ENSP00000362206:T492R	T	+	2	0	KLHL4	86774016	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.169000	0.58223	2.211000	0.71520	0.506000	0.49869	ACA		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			35	14	0	0	0	1	0	35	14				
PDE8B	8622	broad.mit.edu	37	5	76714147	76714147	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:76714147A>G	ENST00000264917.5	+	18	2050	c.2005A>G	c.(2005-2007)Aat>Gat	p.N669D	PDE8B_ENST00000340978.3_Missense_Mutation_p.N622D|PDE8B_ENST00000505283.1_Missense_Mutation_p.N134D|PDE8B_ENST00000333194.4_Missense_Mutation_p.N614D|PDE8B_ENST00000342343.4_Missense_Mutation_p.N649D|PDE8B_ENST00000346042.3_Missense_Mutation_p.N572D	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	669	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TTTCCTCTGCAATGCAGGCAG	0.567																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(2005-2007)Aat>Gat		phosphodiesterase 8B							147.0	107.0	120.0					5																	76714147		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76714147A>G	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2005A>G	5.37:g.76714147A>G	ENSP00000264917:p.Asn669Asp					PDE8B_ENST00000333194.4_Missense_Mutation_p.N614D|PDE8B_ENST00000505283.1_Missense_Mutation_p.N134D|PDE8B_ENST00000340978.3_Missense_Mutation_p.N622D|PDE8B_ENST00000346042.3_Missense_Mutation_p.N572D|PDE8B_ENST00000342343.4_Missense_Mutation_p.N649D	p.N669D	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	18	2050	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	669			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.2005A>G	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506055	0.85282	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.59	4.43	0.53597	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	M	0.93106	3.38	0.80722	D	1	P;P;P;P;P	0.51791	0.846;0.936;0.864;0.936;0.948	P;P;P;P;P	0.60473	0.716;0.803;0.713;0.803;0.875	D	0.89949	0.4078	10	0.87932	D	0	.	11.4251	0.50004	0.9292:0.0:0.0708:0.0	.	572;622;614;649;669	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	D	622;572;669;649;614;134	ENSP00000345446:N622D;ENSP00000330428:N572D;ENSP00000264917:N669D;ENSP00000345646:N649D;ENSP00000331336:N614D;ENSP00000423461:N134D	ENSP00000264917:N669D	N	+	1	0	PDE8B	76749903	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	0.955000	0.37878	0.528000	0.53228	AAT		0.567	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		21	45	0	0	0	1	0	21	45				
BRINP3	339479	broad.mit.edu	37	1	190423919	190423919	+	Silent	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:190423919A>T	ENST00000367462.3	-	2	333	c.102T>A	c.(100-102)gcT>gcA	p.A34A	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	34					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GATCCGAAACAGCAGCAACCG	0.512																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(100-102)gcT>gcA									87.0	82.0	84.0					1																	190423919		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190423919A>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.102T>A	1.37:g.190423919A>T						FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	p.A34A	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			2	333	-	Prostate(682;0.198)		34					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.102T>A	CCDS1373.1																																																																																				0.512	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		14	46	0	0	0	1	0	14	46				
SPRY1	10252	broad.mit.edu	37	4	124322817	124322817	+	Missense_Mutation	SNP	G	G	A	rs201409774		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:124322817G>A	ENST00000394339.2	+	2	411	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SPRY1_ENST00000339241.1_Missense_Mutation_p.R24H	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	24					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTGGATAGCCGTCAGAGATTA	0.463																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(70-72)cGt>cAt		sprouty homolog 1, antagonist of FGF signaling (Drosophila)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	182.0	193.0	189.0		71,71	4.5	1.0	4		189	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SPRY1	NM_005841.1,NM_199327.1	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	24/320,24/320	124322817	2,13004	2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124322817G>A	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.71G>A	4.37:g.124322817G>A	ENSP00000377871:p.Arg24His					SPRY1_ENST00000339241.1_Missense_Mutation_p.R24H	p.R24H	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	411	+			24					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.71G>A	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442223	0.63067	0.0	2.33E-4	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339;ENST00000508849	T;T;T	0.59638	0.25;1.17;0.25	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.66548	0.2800	M	0.77313	2.365	0.58432	D	0.999998	D	0.58970	0.984	P	0.47981	0.563	T	0.74785	-0.3547	10	0.72032	D	0.01	-18.5025	17.3145	0.87218	0.0:0.0:1.0:0.0	.	24	O43609	SPY1_HUMAN	H	24	ENSP00000343785:R24H;ENSP00000421036:R24H;ENSP00000377871:R24H	ENSP00000343785:R24H	R	+	2	0	SPRY1	124542267	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.636000	0.67848	2.481000	0.83766	0.561000	0.74099	CGT		0.463	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			5	218	0	0	0	1	0	5	218				
KIAA1551	55196	broad.mit.edu	37	12	32135922	32135922	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:32135922C>T	ENST00000312561.4	+	4	2447	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	678																	ACCTGTCTTTCCCTGTGGAAA	0.423																																						ENST00000312561.4																			0											c.(2032-2034)tCc>tTc		KIAA1551							65.0	61.0	62.0					12																	32135922		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135922C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2033C>T	12.37:g.32135922C>T	ENSP00000310338:p.Ser678Phe					KIAA1551_ENST00000535596.1_Intron	p.S678F	NM_018169.3	NP_060639.3					4	2447	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2033C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425213	0.43020	.	.	ENSG00000174718	ENST00000312561	T	0.14144	2.53	5.6	3.71	0.42584	.	0.531857	0.17103	N	0.186915	T	0.30823	0.0777	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.05273	-1.0895	9	.	.	.	.	9.9798	0.41806	0.2421:0.6259:0.132:0.0	.	678	Q9HCM1	CL035_HUMAN	F	678	ENSP00000310338:S678F	.	S	+	2	0	C12orf35	32027189	0.109000	0.22037	0.547000	0.28179	0.488000	0.33401	0.041000	0.13927	0.666000	0.31087	0.563000	0.77884	TCC		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		15	48	0	0	0	1	0	15	48				
GPR110	266977	broad.mit.edu	37	6	46976878	46976878	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:46976878C>G	ENST00000371253.2	-	11	2508	c.2293G>C	c.(2293-2295)Gtt>Ctt	p.V765L	GPR110_ENST00000283297.5_Missense_Mutation_p.V568L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	765					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTGTGAGAACTAGCAGCACC	0.542																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2293-2295)Gtt>Ctt		G protein-coupled receptor 110							81.0	85.0	84.0					6																	46976878		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46976878C>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2293G>C	6.37:g.46976878C>G	ENSP00000360299:p.Val765Leu					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V568L	p.V765L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	2508	-			765					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.2293G>C	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743884	0.69418	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.51325	0.71;0.71	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000050	T	0.74084	0.3670	M	0.92122	3.275	0.53688	D	0.999979	D	0.76494	0.999	D	0.71656	0.974	T	0.79431	-0.1806	10	0.72032	D	0.01	-29.0836	20.2789	0.98501	0.0:1.0:0.0:0.0	.	765	Q5T601	GP110_HUMAN	L	765;568	ENSP00000360299:V765L;ENSP00000283297:V568L	ENSP00000283297:V568L	V	-	1	0	GPR110	47084837	1.000000	0.71417	0.618000	0.29105	0.519000	0.34347	4.898000	0.63238	2.788000	0.95919	0.650000	0.86243	GTT		0.542	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		21	36	0	0	0	1	0	21	36				
GRID2	2895	broad.mit.edu	37	4	94690472	94690472	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:94690472C>T	ENST00000282020.4	+	15	2730	c.2472C>T	c.(2470-2472)ggC>ggT	p.G824G	GRID2_ENST00000510992.1_Silent_p.G729G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	824					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGAAAGGAGGCGCCCTGGACA	0.512																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2470-2472)ggC>ggT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						120.0	125.0	124.0					4																	94690472		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94690472C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2472C>T	4.37:g.94690472C>T						GRID2_ENST00000510992.1_Silent_p.G729G	p.G824G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	2730	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	824					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2472C>T	CCDS3637.1																																																																																				0.512	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			11	70	0	0	0	1	0	11	70				
PINX1	54984	broad.mit.edu	37	8	10623050	10623050	+	Missense_Mutation	SNP	G	G	A	rs368843905		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:10623050G>A	ENST00000314787.3	-	7	967	c.848C>T	c.(847-849)cCg>cTg	p.P283L	PINX1_ENST00000519088.1_3'UTR|PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	283	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GCCCTCAGGCGGCTGCACATG	0.572																																						ENST00000314787.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(847-849)cCg>cTg		PIN2/TERF1 interacting, telomerase inhibitor 1		G	LEU/PRO	0,3740		0,0,1870	51.0	51.0	51.0		848	2.9	0.0	8		51	1,8207		0,1,4103	no	missense	PINX1	NM_017884.4	98	0,1,5973	AA,AG,GG		0.0122,0.0,0.0084		283/329	10623050	1,11947	1870	4104	5974	SO:0001583	missense	54984							g.chr8:10623050G>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.848C>T	8.37:g.10623050G>A	ENSP00000318966:p.Pro283Leu					PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron	p.P283L	NM_017884.4	NP_060354.4				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	967	-								B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.848C>T	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731630	0.15507	0.0	1.22E-4	ENSG00000254093	ENST00000314787	T	0.10477	2.87	4.87	2.92	0.33932	.	0.923815	0.09240	N	0.829260	T	0.10852	0.0265	L	0.52573	1.65	0.09310	N	0.999999	B	0.22541	0.071	B	0.16289	0.015	T	0.25710	-1.0124	10	0.72032	D	0.01	.	5.0897	0.14702	0.1057:0.0:0.6739:0.2204	.	283	Q96BK5	PINX1_HUMAN	L	283	ENSP00000318966:P283L	ENSP00000318966:P283L	P	-	2	0	PINX1	10660460	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.350000	0.20079	1.274000	0.44362	0.563000	0.77884	CCG		0.572	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		6	27	0	0	0	1	0	6	27				
RARG	5916	broad.mit.edu	37	12	53621287	53621287	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:53621287C>A	ENST00000425354.2	-	3	530	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.G15W	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	15	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GATCCAGGCCCCAGGGCACCA	0.667																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(43-45)Ggg>Tgg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						26.0	28.0	27.0					12																	53621287		2201	4299	6500	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53621287C>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.43G>T	12.37:g.53621287C>A	ENSP00000388510:p.Gly15Trp					RARG_ENST00000394426.1_Missense_Mutation_p.G15W|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	p.G15W	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			3	530	-			15			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.43G>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452862	0.43531	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91996	-2.95;-2.95	4.85	4.85	0.62838	.	0.511998	0.19610	N	0.110176	D	0.91432	0.7296	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.92164	0.5738	10	0.87932	D	0	.	13.68	0.62479	0.0:1.0:0.0:0.0	.	15	P13631	RARG_HUMAN	W	15	ENSP00000388510:G15W;ENSP00000377947:G15W	ENSP00000377947:G15W	G	-	1	0	RARG	51907554	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.997000	0.57016	2.700000	0.92200	0.462000	0.41574	GGG		0.667	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		7	18	1	0	0.27861	1	0.27861	7	18				
HIST1H3I	8354	broad.mit.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:27839778C>T	ENST00000328488.2	-	1	321	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572																																						ENST00000328488.2																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(316-318)Gag>Aag		histone cluster 1, H3i							106.0	113.0	111.0					6																	27839778		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839778C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.316G>A	6.37:g.27839778C>T	ENSP00000329554:p.Glu106Lys						p.E106K	NM_003533.2	NP_003524.1	P68431	H31_HUMAN			1	321	-			106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.316G>A	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000182572	ENST00000328488	T	0.71341	-0.56	4.12	4.12	0.48240	.	.	.	.	.	T	0.78220	0.4249	.	.	.	0.45239	D	0.998247	.	.	.	.	.	.	T	0.81304	-0.0993	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	K	106	ENSP00000329554:E106K	ENSP00000329554:E106K	E	-	1	0	HIST1H3I	27947757	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		45	90	0	0	0	1	0	45	90				
SIGLEC9	27180	broad.mit.edu	37	19	51628328	51628328	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:51628328G>A	ENST00000250360.3	+	1	164	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.E33K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	33	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACGGTGCAGGAAGGCCTGTG	0.607																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(97-99)Gaa>Aaa		sialic acid binding Ig-like lectin 9							162.0	107.0	125.0					19																	51628328		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628328G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.97G>A	19.37:g.51628328G>A	ENSP00000250360:p.Glu33Lys					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E33K	p.E33K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	164	+		all_neural(266;0.0529)	33			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.97G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.272482	0.40194	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.54479	0.57;0.57	2.88	1.82	0.25136	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.184328	0.25842	N	0.027944	T	0.67562	0.2906	M	0.78456	2.415	0.22280	N	0.999232	P	0.39044	0.656	P	0.56865	0.808	T	0.61628	-0.7024	10	0.87932	D	0	.	10.0337	0.42116	0.0:0.2097:0.7903:0.0	.	33	Q9Y336	SIGL9_HUMAN	K	33	ENSP00000413861:E33K;ENSP00000250360:E33K	ENSP00000250360:E33K	E	+	1	0	SIGLEC9	56320140	1.000000	0.71417	0.236000	0.24074	0.009000	0.06853	0.789000	0.26886	-0.001000	0.14495	-2.148000	0.00335	GAA		0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		26	40	0	0	0	1	0	26	40				
ATP5A1	498	broad.mit.edu	37	18	43664472	43664472	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:43664472G>C	ENST00000398752.6	-	11	1699	c.1578C>G	c.(1576-1578)atC>atG	p.I526M	ATP5A1_ENST00000282050.2_Missense_Mutation_p.I526M|ATP5A1_ENST00000593152.2_Missense_Mutation_p.I476M|ATP5A1_ENST00000590665.1_Missense_Mutation_p.I504M	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	526					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATTCATACCTGATAGTGCCCA	0.358																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(1426-1428)atC>atG		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							60.0	58.0	58.0					18																	43664472		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43664472G>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1578C>G	18.37:g.43664472G>C	ENSP00000381736:p.Ile526Met					ATP5A1_ENST00000398752.6_Missense_Mutation_p.I526M|ATP5A1_ENST00000282050.2_Missense_Mutation_p.I526M|ATP5A1_ENST00000590665.1_Missense_Mutation_p.I504M	p.I476M	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			11	1967	-			526					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1428C>G	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980812	0.34942	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81908	-1.55;-1.55	5.4	3.61	0.41365	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95504	3.68	0.51767	D	0.999938	D	0.53312	0.959	D	0.74348	0.983	D	0.92595	0.6086	10	0.72032	D	0.01	-7.7399	10.414	0.44311	0.0696:0.0:0.7958:0.1346	.	526	P25705	ATPA_HUMAN	M	526;526;476	ENSP00000282050:I526M;ENSP00000381736:I526M	ENSP00000282050:I526M	I	-	3	3	ATP5A1	41918470	1.000000	0.71417	0.996000	0.52242	0.076000	0.17211	2.804000	0.47931	0.655000	0.30866	-0.136000	0.14681	ATC		0.358	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		14	51	0	0	0	1	0	14	51				
MCM4	4173	broad.mit.edu	37	8	48874749	48874749	+	Silent	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:48874749C>G	ENST00000262105.2	+	3	581	c.372C>G	c.(370-372)ggC>ggG	p.G124G	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Silent_p.G124G|PRKDC_ENST00000523565.1_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	124					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CACAGAAGGGCCTGCAAGTGG	0.547																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(370-372)ggC>ggG		minichromosome maintenance complex component 4							63.0	63.0	63.0					8																	48874749		2203	4300	6503	SO:0001819	synonymous_variant	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874749C>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.372C>G	8.37:g.48874749C>G						MCM4_ENST00000523944.1_Silent_p.G124G	p.G124G	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			3	581	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	124					Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	c.372C>G	CCDS6143.1																																																																																				0.547	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		17	48	0	0	0	1	0	17	48				
SULT2B1	6820	broad.mit.edu	37	19	49094970	49094970	+	Silent	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:49094970G>C	ENST00000201586.2	+	4	706	c.528G>C	c.(526-528)ctG>ctC	p.L176L	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000323090.4_Silent_p.L161L	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	176					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		ACCAGTTCCTGAGGGACTTCC	0.632																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(481-483)ctG>ctC		sulfotransferase family, cytosolic, 2B, member 1							27.0	24.0	25.0					19																	49094970		2202	4300	6502	SO:0001819	synonymous_variant	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49094970G>C	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.528G>C	19.37:g.49094970G>C						SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Silent_p.L176L	p.L161L	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	3	858	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	176					O00205|O75814	Silent	SNP	ENST00000201586.2	37	c.483G>C	CCDS12723.1																																																																																				0.632	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		3	17	0	0	0	1	0	3	17				
EPN1	29924	broad.mit.edu	37	19	56206141	56206141	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:56206141G>A	ENST00000270460.6	+	10	1625	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	EPN1_ENST00000411543.2_Silent_p.A524A|EPN1_ENST00000085079.7_Silent_p.A412A|AC010525.6_ENST00000587937.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	438	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCCCTGGGGCGTTTGACATGA	0.687																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1570-1572)gcG>gcA		epsin 1							25.0	34.0	31.0					19																	56206141		1987	4141	6128	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206141G>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1314G>A	19.37:g.56206141G>A						EPN1_ENST00000085079.7_Silent_p.A412A|EPN1_ENST00000270460.6_Silent_p.A438A	p.A524A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2119	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	438			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1572G>A	CCDS46199.1																																																																																				0.687	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		7	28	0	0	0	1	0	7	28				
NLRP3	114548	broad.mit.edu	37	1	247588477	247588477	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:247588477C>T	ENST00000336119.3	+	3	2478	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.R578C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R578C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R578C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R578C|NLRP3_ENST00000366497.2_Missense_Mutation_p.R578C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	578					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTTTGTTGTACGTTTCCTCTT	0.463																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1732-1734)Cgt>Tgt		NLR family, pyrin domain containing 3							62.0	59.0	60.0					1																	247588477		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588477C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1732C>T	1.37:g.247588477C>T	ENSP00000337383:p.Arg578Cys					NLRP3_ENST00000348069.2_Missense_Mutation_p.R578C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R578C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R578C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R578C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R578C|NLRP3_ENST00000474792.1_3'UTR	p.R578C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2512	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	578					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1732C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573395	0.65765	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	3.96	3.96	0.45880	.	0.000000	0.53938	D	0.000054	D	0.92348	0.7572	M	0.68317	2.08	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.976;1.0;0.988;0.959	D;P;D;P;B	0.91635	0.997;0.494;0.999;0.764;0.442	D	0.90245	0.4289	10	0.30854	T	0.27	.	11.8199	0.52232	0.0:1.0:0.0:0.0	.	578;578;578;578;578	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	578	ENSP00000375704:R578C;ENSP00000355453:R578C;ENSP00000337383:R578C;ENSP00000294752:R578C;ENSP00000355452:R578C;ENSP00000375703:R578C	ENSP00000337383:R578C	R	+	1	0	NLRP3	245655100	0.981000	0.34729	0.994000	0.49952	0.830000	0.47004	2.726000	0.47302	2.502000	0.84385	0.655000	0.94253	CGT		0.463	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		21	79	0	0	0	1	0	21	79				
OGFRL1	79627	broad.mit.edu	37	6	72006455	72006455	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:72006455G>A	ENST00000370435.4	+	6	761	c.627G>A	c.(625-627)ctG>ctA	p.L209L	RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	209						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GAATAAAACTGACTGATAAAA	0.348																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(625-627)ctG>ctA		opioid growth factor receptor-like 1							56.0	63.0	61.0					6																	72006455		2198	4297	6495	SO:0001819	synonymous_variant	79627					membrane	receptor activity	g.chr6:72006455G>A		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.627G>A	6.37:g.72006455G>A						RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	p.L209L	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN			6	761	+			209					Q2TAC1|Q8NEQ4|Q9H7B5	Silent	SNP	ENST00000370435.4	37	c.627G>A	CCDS34482.1																																																																																				0.348	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		30	45	0	0	0	1	0	30	45				
TOLLIP	54472	broad.mit.edu	37	11	1298422	1298422	+	Silent	SNP	G	G	A	rs374900667		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:1298422G>A	ENST00000317204.6	-	6	795	c.672C>T	c.(670-672)aaC>aaT	p.N224N	TOLLIP_ENST00000527938.1_3'UTR|TOLLIP_ENST00000525159.1_Silent_p.N163N|TOLLIP_ENST00000542915.1_Silent_p.N174N|TOLLIP_ENST00000527886.1_Silent_p.N155N|TOLLIP_ENST00000263646.7_Silent_p.N196N	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	224					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGGGCTGGGCGTTCACGGCGG	0.632																																						ENST00000527886.1																			0				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(463-465)aaC>aaT		toll interacting protein		G		0,4404		0,0,2202	65.0	60.0	61.0		672	-1.2	0.0	11		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TOLLIP	NM_019009.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		224/275	1298422	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1298422G>A	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.672C>T	11.37:g.1298422G>A						TOLLIP_ENST00000263646.7_Silent_p.N196N|TOLLIP_ENST00000317204.6_Silent_p.N224N|TOLLIP_ENST00000542915.1_Silent_p.N174N|TOLLIP_ENST00000525159.1_Silent_p.N163N|TOLLIP_ENST00000527938.1_3'UTR	p.N155N			Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	6	845	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	224					B3KXC6|Q9H9E6|Q9UJ69	Silent	SNP	ENST00000317204.6	37	c.465C>T	CCDS7723.1																																																																																				0.632	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		23	47	0	0	0	1	0	23	47				
RND2	8153	broad.mit.edu	37	17	41174333	41174333	+	5'Flank	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:41174333C>G	ENST00000587250.2	+	0	0				RND2_ENST00000544533.1_5'Flank|VAT1_ENST00000420567.3_5'Flank|VAT1_ENST00000355653.3_Missense_Mutation_p.D3H|VAT1_ENST00000587173.1_Missense_Mutation_p.D3H			P52198	RND2_HUMAN	Rho family GTPase 2						GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCTCTCTCGTCGGACATGGCT	0.692																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(7-9)Gac>Cac		vesicle amine transport 1							5.0	5.0	5.0					17																	41174333		1634	3143	4777	SO:0001631	upstream_gene_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41174333C>G	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817		17.37:g.41174333C>G	Exception_encountered					VAT1_ENST00000587173.1_Missense_Mutation_p.D3H	p.D3H	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	102	-		Breast(137;0.000717)	3					A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	37	c.7G>C	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	c	10.03	1.238474	0.22711	.	.	ENSG00000108828	ENST00000355653;ENST00000315674	T	0.55234	0.53	3.74	1.73	0.24493	.	2.155680	0.01906	N	0.039534	T	0.34629	0.0904	N	0.08118	0	0.80722	D	1	B;B	0.16603	0.018;0.018	B;B	0.09377	0.003;0.004	T	0.21793	-1.0235	10	0.56958	D	0.05	.	5.9634	0.19313	0.1893:0.7052:0.0:0.1055	.	3;3	B4DPX4;Q99536	.;VAT1_HUMAN	H	3	ENSP00000347872:D3H	ENSP00000326121:D3H	D	-	1	0	VAT1	38427859	0.288000	0.24324	0.078000	0.20375	0.050000	0.14768	2.734000	0.47368	0.274000	0.22072	-0.226000	0.12346	GAC		0.692	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		34	10	0	0	0	1	0	34	10				
TCIRG1	10312	broad.mit.edu	37	11	67815027	67815027	+	Silent	SNP	C	C	T	rs372063415		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:67815027C>T	ENST00000265686.3	+	11	1401	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	TCIRG1_ENST00000532635.1_Silent_p.A215A	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	431					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CTGTGAAGGCCGCGCAGAACG	0.652																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1291-1293)gcC>gcT		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							66.0	60.0	62.0					11																	67815027		2199	4294	6493	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67815027C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1293C>T	11.37:g.67815027C>T						TCIRG1_ENST00000532635.1_Silent_p.A215A	p.A431A	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			11	1401	+			431					O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.1293C>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	1.076	-0.668368	0.03428	.	.	ENSG00000110719	ENST00000529364	.	.	.	3.88	-7.43	0.01383	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.19910	-1.0291	4	.	.	.	-1.988	0.015	0.00002	0.278:0.2157:0.2088:0.2975	.	.	.	.	L	235	.	.	P	+	2	0	TCIRG1	67571603	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.754000	0.00790	-2.204000	0.00743	-0.362000	0.07510	CCG		0.652	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		19	37	0	0	0	1	0	19	37				
CLCN2	1181	broad.mit.edu	37	3	184073265	184073265	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:184073265C>T	ENST00000265593.4	-	12	1394	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCCCTGGCGGACCCACGT	0.587																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1222-1224)cGc>cAc		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						129.0	115.0	120.0					3																	184073265		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184073265C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1223G>A	3.37:g.184073265C>T	ENSP00000265593:p.Arg408His					CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H	p.R408H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1394	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		408					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1223G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.349514	0.41599	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85013	-1.88;-1.83;-0.36;-1.93;-1.92	5.6	3.81	0.43845	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	T	0.78572	0.4304	L	0.40543	1.245	0.33251	D	0.558472	B;B;B;B;B	0.18741	0.02;0.03;0.013;0.011;0.03	B;B;B;B;B	0.19391	0.013;0.025;0.01;0.004;0.015	T	0.75825	-0.3181	10	0.56958	D	0.05	-8.8308	9.476	0.38871	0.0:0.6653:0.0:0.3347	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	H	408;408;49;364;408	ENSP00000265593:R408H;ENSP00000345056:R408H;ENSP00000412226:R49H;ENSP00000400425:R364H;ENSP00000391928:R408H	ENSP00000265593:R408H	R	-	2	0	CLCN2	185555959	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.782000	0.38654	0.342000	0.23796	-1.119000	0.02030	CGC		0.587	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			25	161	0	0	0	1	0	25	161				
ZNF747	65988	broad.mit.edu	37	16	30544131	30544131	+	3'UTR	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:30544131G>A	ENST00000252799.3	-	0	1492				ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.R228W|ZNF747_ENST00000568028.1_Missense_Mutation_p.R228W|ZNF747_ENST00000535210.1_Missense_Mutation_p.R228W|AC002310.12_ENST00000569752.1_RNA|AC002310.12_ENST00000457283.3_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TGGATGGCCCGGTGTTTGCTC	0.662																																						ENST00000535210.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(682-684)Cgg>Tgg		zinc finger protein 747																																				SO:0001624	3_prime_UTR_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544131G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*249C>T	16.37:g.30544131G>A						ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.R228W|ZNF747_ENST00000569360.1_Missense_Mutation_p.R228W	p.R228W			Q9BV97	ZN747_HUMAN			3	854	-			0					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.682C>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526858	0.44969	.	.	ENSG00000169955	ENST00000535210	T	0.18810	2.19	2.2	2.2	0.27929	.	.	.	.	.	T	0.22627	0.0546	.	.	.	0.22591	N	0.998952	.	.	.	.	.	.	T	0.15065	-1.0450	6	0.66056	D	0.02	.	7.0026	0.24817	0.149:0.0:0.851:0.0	.	.	.	.	W	228	ENSP00000441702:R228W	ENSP00000441702:R228W	R	-	1	2	ZNF747	30451632	0.518000	0.26234	0.999000	0.59377	0.437000	0.31866	0.728000	0.26013	1.545000	0.49373	0.313000	0.20887	CGG		0.662	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		8	9	0	0	0	1	0	8	9				
PDGFRA	5156	broad.mit.edu	37	4	55133835	55133835	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:55133835C>A	ENST00000257290.5	+	7	1379	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	350	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GATATCCTGGCTGAAAAACAA	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1048-1050)Ctg>Atg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						56.0	53.0	54.0					4																	55133835		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133835C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1048C>A	4.37:g.55133835C>A	ENSP00000257290:p.Leu350Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.L350M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1379	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		350			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1048C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324418	0.60634	.	.	ENSG00000134853	ENST00000257290	T	0.56941	0.43	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.26646	U	0.023234	T	0.66167	0.2762	M	0.62209	1.925	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.70016	0.967;0.942	T	0.65113	-0.6247	10	0.44086	T	0.13	.	10.1291	0.42667	0.0:0.8474:0.0:0.1526	.	350;350	P16234-3;P16234	.;PGFRA_HUMAN	M	350	ENSP00000257290:L350M	ENSP00000257290:L350M	L	+	1	2	PDGFRA	54828592	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.901000	0.28445	2.745000	0.94114	0.462000	0.41574	CTG		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		18	62	1	0	2.35188e-11	1	2.64052e-11	18	62				
GOLGA8I	283796	broad.mit.edu	37	15	23261901	23261901	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:23261901G>T	ENST00000450802.3	+	12	1111	c.1013G>T	c.(1012-1014)gGa>gTa	p.G338V	RN7SL495P_ENST00000461817.2_RNA|AC091565.1_ENST00000459619.1_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	338						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											CTGAACCGGGGACAAGAAGAG	0.572																																						ENST00000450802.3																			0											c.(1012-1014)gGa>gTa																																						SO:0001583	missense	283796							g.chr15:23261901G>T	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.1013G>T	15.37:g.23261901G>T	ENSP00000399637:p.Gly338Val						p.G338V							12	1111	+									Missense_Mutation	SNP	ENST00000450802.3	37	c.1013G>T		.	.	.	.	.	.	.	.	.	.	.	6.887	0.533145	0.13188	.	.	ENSG00000153666	ENST00000450802	T	0.21932	1.98	0.83	-0.489	0.12052	.	.	.	.	.	T	0.13628	0.0330	.	.	.	.	.	.	B	0.13594	0.008	B	0.18561	0.022	T	0.21621	-1.0240	7	0.52906	T	0.07	.	4.1415	0.10196	0.7517:0.0:0.2483:0.0	.	257	Q8NA68	.	V	338	ENSP00000399637:G338V	ENSP00000399637:G338V	G	+	2	0	GOLGA8IP	20813342	1.000000	0.71417	0.011000	0.14972	0.215000	0.24574	1.994000	0.40757	-0.138000	0.11434	0.064000	0.15345	GGA		0.572	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		23	44	1	0	2.21704e-12	1	2.52354e-12	23	44				
AKAP7	9465	broad.mit.edu	37	6	131540889	131540889	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:131540889C>T	ENST00000431975.2	+	7	889	c.791C>T	c.(790-792)tCc>tTc	p.S264F	AKAP7_ENST00000541650.1_Missense_Mutation_p.S263F|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.S242F	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	264						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GATCTTTGCTCCATGCTGAAG	0.274																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(790-792)tCc>tTc		A kinase (PRKA) anchor protein 7							82.0	88.0	86.0					6																	131540889		2203	4299	6502	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131540889C>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.791C>T	6.37:g.131540889C>T	ENSP00000405252:p.Ser264Phe					AKAP7_ENST00000541650.1_Missense_Mutation_p.S263F|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.S242F	p.S264F	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	7	889	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.791C>T	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341690	0.81911	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.65364	-0.15;-0.15;-0.15	5.77	5.77	0.91146	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	M	0.72118	2.19	0.50632	D	0.999886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77267	-0.2651	10	0.87932	D	0	-6.1756	17.4919	0.87707	0.0:1.0:0.0:0.0	.	263;264	F5GXD1;Q9P0M2	.;AKA7G_HUMAN	F	264;263;242	ENSP00000405252:S264F;ENSP00000441048:S263F;ENSP00000357105:S242F	ENSP00000357105:S242F	S	+	2	0	AKAP7	131582582	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.241000	0.65384	2.729000	0.93468	0.655000	0.94253	TCC		0.274	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		16	51	0	0	0	1	0	16	51				
EPN2	22905	broad.mit.edu	37	17	19232091	19232091	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:19232091C>T	ENST00000314728.5	+	8	1699	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	EPN2_ENST00000571254.1_Silent_p.P341P|EPN2_ENST00000395626.1_Silent_p.P405P|EPN2_ENST00000347697.2_Silent_p.P348P|EPN2_ENST00000395620.2_Silent_p.P348P|EPN2_ENST00000575595.1_Silent_p.P113P|EPN2_ENST00000395618.3_Silent_p.P120P	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	405	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AATCTGTCCCCAAGAACTCGG	0.622																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1213-1215)ccC>ccT		epsin 2							61.0	56.0	58.0					17																	19232091		2203	4300	6503	SO:0001819	synonymous_variant	22905				endocytosis		lipid binding	g.chr17:19232091C>T	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1215C>T	17.37:g.19232091C>T						EPN2_ENST00000395620.2_Silent_p.P348P|EPN2_ENST00000347697.2_Silent_p.P348P|EPN2_ENST00000395618.3_Silent_p.P120P|EPN2_ENST00000571254.1_Silent_p.P341P|EPN2_ENST00000395626.1_Silent_p.P405P|EPN2_ENST00000575595.1_Silent_p.P113P	p.P405P	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			8	1699	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		405			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	ENST00000314728.5	37	c.1215C>T	CCDS11203.1																																																																																				0.622	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		49	33	0	0	0	1	0	49	33				
COPA	1314	broad.mit.edu	37	1	160309984	160309984	+	Silent	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:160309984A>G	ENST00000241704.7	-	2	370	c.141T>C	c.(139-141)ttT>ttC	p.F47F	COPA_ENST00000368069.3_Silent_p.F47F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	47					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGTTCATCAAACTTGTCAA	0.403																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(139-141)ttT>ttC		coatomer protein complex, subunit alpha							78.0	78.0	78.0					1																	160309984		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160309984A>G	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.141T>C	1.37:g.160309984A>G						COPA_ENST00000368069.3_Silent_p.F47F	p.F47F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	370	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		47					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.141T>C	CCDS1202.1																																																																																				0.403	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		19	84	0	0	0	1	0	19	84				
LIFR	3977	broad.mit.edu	37	5	38481992	38481992	+	Missense_Mutation	SNP	C	C	T	rs369663413		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:38481992C>T	ENST00000263409.4	-	20	3161	c.2999G>A	c.(2998-3000)gGc>gAc	p.G1000D	LIFR_ENST00000453190.2_Missense_Mutation_p.G1000D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1000					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGGCTTATAGCCTGCCCCTCC	0.458			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2998-3000)gGc>gAc		leukemia inhibitory factor receptor alpha							103.0	105.0	105.0					5																	38481992		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481992C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2999G>A	5.37:g.38481992C>T	ENSP00000263409:p.Gly1000Asp					LIFR_ENST00000453190.2_Missense_Mutation_p.G1000D	p.G1000D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3161	-	all_lung(31;0.00021)		1000					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2999G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160314	0.78226	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	D;D	0.86497	-2.13;-2.13	6.06	6.06	0.98353	.	0.259894	0.45126	D	0.000397	D	0.93284	0.7860	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.92538	0.6039	10	0.59425	D	0.04	-21.6841	20.6397	0.99537	0.0:1.0:0.0:0.0	.	1000	P42702	LIFR_HUMAN	D	1000	ENSP00000263409:G1000D;ENSP00000398368:G1000D	ENSP00000263409:G1000D	G	-	2	0	LIFR	38517749	1.000000	0.71417	0.999000	0.59377	0.643000	0.38383	3.570000	0.53834	2.880000	0.98712	0.650000	0.86243	GGC		0.458	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		4	95	0	0	0	1	0	4	95				
ZNF521	25925	broad.mit.edu	37	18	22807583	22807583	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:22807583C>T	ENST00000361524.3	-	4	447	c.299G>A	c.(298-300)aGc>aAc	p.S100N	ZNF521_ENST00000538137.2_Missense_Mutation_p.S100N|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	100					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCCATGGCTAGGGGAAGT	0.507			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(298-300)aGc>aAc		zinc finger protein 521							65.0	59.0	61.0					18																	22807583		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807583C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.299G>A	18.37:g.22807583C>T	ENSP00000354794:p.Ser100Asn					ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S100N|ZNF521_ENST00000584787.1_5'UTR	p.S100N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	447	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		100					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.299G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095330	0.36952	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.03	5.77	5.77	0.91146	.	0.044386	0.85682	D	0.000000	T	0.08313	0.0207	N	0.14661	0.345	0.33409	D	0.578347	B	0.25772	0.134	B	0.28709	0.093	T	0.22068	-1.0227	10	0.27785	T	0.31	-31.5689	15.8031	0.78471	0.0:0.8647:0.1353:0.0	.	100	Q96K83	ZN521_HUMAN	N	100;134;100	ENSP00000354794:S100N;ENSP00000382352:S100N	ENSP00000354794:S100N	S	-	2	0	ZNF521	21061581	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.471000	0.53107	2.885000	0.99019	0.655000	0.94253	AGC		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		19	55	0	0	0	1	0	19	55				
HERC4	26091	broad.mit.edu	37	10	69684939	69684939	+	Silent	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:69684939T>C	ENST00000395198.3	-	25	3115	c.2868A>G	c.(2866-2868)acA>acG	p.T956T	HERC4_ENST00000412272.2_Silent_p.T878T|HERC4_ENST00000277817.6_Silent_p.T846T|HERC4_ENST00000373700.4_Silent_p.T948T|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	956	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CTTTGTATTCTGTATTCTAAA	0.328																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(2866-2868)acA>acG		HECT and RLD domain containing E3 ubiquitin protein ligase 4							78.0	79.0	78.0					10																	69684939		2202	4297	6499	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69684939T>C	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2868A>G	10.37:g.69684939T>C						HERC4_ENST00000412272.2_Silent_p.T878T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.T948T|HERC4_ENST00000277817.6_Silent_p.T846T	p.T956T	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			25	3115	-			956			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.2868A>G	CCDS41533.1																																																																																				0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		22	48	0	0	0	1	0	22	48				
NUP205	23165	broad.mit.edu	37	7	135291531	135291531	+	Missense_Mutation	SNP	C	C	T	rs112867264		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:135291531C>T	ENST00000285968.6	+	21	2964	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	980					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTTGCAATTCGTCATGAAAC	0.333																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2938-2940)Cgt>Tgt		nucleoporin 205kDa							128.0	123.0	125.0					7																	135291531		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135291531C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2938C>T	7.37:g.135291531C>T	ENSP00000285968:p.Arg980Cys						p.R980C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			21	2964	+			980					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2938C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780087	0.49891	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	5.04	5.04	0.67666	.	0.103551	0.64402	D	0.000002	T	0.41834	0.1176	L	0.53249	1.67	0.80722	D	1	D	0.65815	0.995	P	0.54210	0.745	T	0.26258	-1.0108	10	0.56958	D	0.05	-16.4423	13.1108	0.59273	0.0:0.9222:0.0:0.0778	.	980	Q92621	NU205_HUMAN	C	980	ENSP00000285968:R980C	ENSP00000285968:R980C	R	+	1	0	NUP205	134942071	1.000000	0.71417	0.995000	0.50966	0.074000	0.17049	6.044000	0.71012	2.496000	0.84212	0.561000	0.74099	CGT		0.333	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	109	0	0	0	1	0	4	109				
DCAF4L2	138009	broad.mit.edu	37	8	88885472	88885472	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:88885472C>T	ENST00000319675.3	-	1	824	c.728G>A	c.(727-729)tGt>tAt	p.C243Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	243										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCCAGAGCGACAGCCATTAAA	0.522																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(727-729)tGt>tAt		DDB1 and CUL4 associated factor 4-like 2							131.0	125.0	127.0					8																	88885472		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885472C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.728G>A	8.37:g.88885472C>T	ENSP00000316496:p.Cys243Tyr						p.C243Y	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	824	-			243						Missense_Mutation	SNP	ENST00000319675.3	37	c.728G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827210	0.50739	.	.	ENSG00000176566	ENST00000319675	T	0.25414	1.8	1.92	0.969	0.19686	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.085544	0.85682	D	0.000000	T	0.42449	0.1203	M	0.77820	2.39	0.39996	D	0.975105	D	0.89917	1.0	D	0.77557	0.99	T	0.29212	-1.0019	10	0.66056	D	0.02	.	2.8059	0.05427	0.2669:0.5504:0.0:0.1826	.	243	Q8NA75	DC4L2_HUMAN	Y	243	ENSP00000316496:C243Y	ENSP00000316496:C243Y	C	-	2	0	DCAF4L2	88954588	1.000000	0.71417	0.036000	0.18154	0.341000	0.28922	3.360000	0.52299	-0.066000	0.12998	0.467000	0.42956	TGT		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		84	97	0	0	0	1	0	84	97				
PCDHB16	57717	broad.mit.edu	37	5	140562941	140562941	+	Silent	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140562941A>G	ENST00000361016.2	+	1	1962	c.807A>G	c.(805-807)ttA>ttG	p.L269L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	269	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGGATTTAGACGGCGGAG	0.483																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(805-807)ttA>ttG									62.0	64.0	64.0					5																	140562941		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562941A>G	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.807A>G	5.37:g.140562941A>G							p.L269L	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1962	+			269			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.807A>G	CCDS4251.1																																																																																				0.483	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	103	0	0	0	1	0	4	103				
DYNC1H1	1778	broad.mit.edu	37	14	102502959	102502959	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:102502959G>A	ENST00000360184.4	+	57	11052	c.10888G>A	c.(10888-10890)Ggt>Agt	p.G3630S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3630	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGAGATTCGGTAACCCCCT	0.438																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(10888-10890)Ggt>Agt		dynein, cytoplasmic 1, heavy chain 1							144.0	127.0	132.0					14																	102502959		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102502959G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10888G>A	14.37:g.102502959G>A	ENSP00000348965:p.Gly3630Ser					RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	p.G3630S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			57	11052	+			3630			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10888G>A	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.886296|4.886296	0.91814|0.91814	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.37058|.	1.22|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92319|0.92319	0.7563|0.7563	H|H	0.99770|0.99770	4.765|4.765	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95298|0.95298	0.8401|0.8401	10|5	0.87932|.	D|.	0|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3630|.	Q14204|.	DYHC1_HUMAN|.	S|Q	3630|105	ENSP00000348965:G3630S|.	ENSP00000348965:G3630S|.	G|R	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101572712|101572712	1.000000|1.000000	0.71417|0.71417	0.176000|0.176000	0.23000|0.23000	0.349000|0.349000	0.29174|0.29174	9.869000|9.869000	0.99810|0.99810	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.438	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		40	88	0	0	0	1	0	40	88				
DOCK2	1794	broad.mit.edu	37	5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	rs201322810		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:169506008C>T	ENST00000256935.8	+	49	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1675					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5023-5025)aCg>aTg		dedicator of cytokinesis 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	110.0	108.0		5024	4.1	0.0	5		108	0,8600		0,0,4300	yes	missense	DOCK2	NM_004946.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1675/1831	169506008	1,13005	2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5024C>T	5.37:g.169506008C>T	ENSP00000256935:p.Thr1675Met					DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M	p.T1675M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5104	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1675					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5024C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213024	0.39102	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08546	3.73;3.37;3.08	4.92	4.05	0.47172	.	0.536026	0.18828	N	0.130075	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	0.999998	P;P;B	0.50156	0.661;0.932;0.349	B;B;B	0.38712	0.115;0.28;0.072	T	0.24835	-1.0149	10	0.51188	T	0.08	.	13.8967	0.63775	0.1538:0.8462:0.0:0.0	.	1167;231;1675	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1675;1167;736	ENSP00000256935:T1675M;ENSP00000429283:T1167M;ENSP00000438827:T736M	ENSP00000256935:T1675M	T	+	2	0	DOCK2	169438586	0.069000	0.21087	0.008000	0.14137	0.128000	0.20619	1.306000	0.33505	1.195000	0.43115	0.650000	0.86243	ACG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		18	91	0	0	0	1	0	18	91				
ZNF493	284443	broad.mit.edu	37	19	21607770	21607770	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:21607770A>G	ENST00000355504.4	+	2	2191	c.1925A>G	c.(1924-1926)gAg>gGg	p.E642G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.E770G	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATACTGAAGAGACTGTACAA	0.388																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(2308-2310)gAg>gGg		zinc finger protein 493							47.0	49.0	48.0					19																	21607770		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607770A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1925A>G	19.37:g.21607770A>G	ENSP00000347691:p.Glu642Gly					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.E642G	p.E770G	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	2418	+			642					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.2309A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.33	1.607137	0.28623	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.08984	3.21;3.03	1.17	1.17	0.20885	.	.	.	.	.	T	0.21145	0.0509	M	0.66297	2.02	0.80722	D	1	B;D	0.76494	0.329;0.999	B;D	0.76575	0.05;0.988	T	0.01051	-1.1468	9	0.59425	D	0.04	.	7.2235	0.26002	1.0:0.0:0.0:0.0	.	642;770	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	G	770;642	ENSP00000376110:E770G;ENSP00000347691:E642G	ENSP00000347691:E642G	E	+	2	0	ZNF493	21399610	0.729000	0.28090	0.009000	0.14445	0.038000	0.13279	0.721000	0.25911	0.474000	0.27392	0.332000	0.21555	GAG		0.388	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		11	89	0	0	0	1	0	11	89				
CCDC6	8030	broad.mit.edu	37	10	61665982	61665982	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:61665982C>A	ENST00000263102.6	-	1	432	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	67						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTTCTCTTGCTGCAGCGAGG	0.647			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(199-201)caG>caT		coiled-coil domain containing 6							113.0	115.0	114.0					10																	61665982		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61665982C>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.201G>T	10.37:g.61665982C>A	ENSP00000263102:p.Gln67His						p.Q67H	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	432	-			67					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.201G>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716777	0.68844	.	.	ENSG00000108091	ENST00000263102	T	0.81330	-1.48	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	L	0.57536	1.79	0.58432	D	0.999999	D	0.61080	0.989	D	0.63597	0.916	D	0.88025	0.2771	10	0.66056	D	0.02	-13.6172	15.9647	0.79961	0.0:1.0:0.0:0.0	.	67	Q16204	CCDC6_HUMAN	H	67	ENSP00000263102:Q67H	ENSP00000263102:Q67H	Q	-	3	2	CCDC6	61335988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.345000	0.52182	2.328000	0.79073	0.563000	0.77884	CAG		0.647	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		40	96	1	0	1.02687e-29	1	1.21357e-29	40	96				
ANKS1B	56899	broad.mit.edu	37	12	99640465	99640465	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:99640465G>T	ENST00000547776.2	-	13	1933	c.1934C>A	c.(1933-1935)cCt>cAt	p.P645H	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P645H|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P225H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	645						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAAAGGCAAAGGACTGTTTGC	0.383																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1933-1935)cCt>cAt		ankyrin repeat and sterile alpha motif domain containing 1B							93.0	85.0	87.0					12																	99640465		1838	4088	5926	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640465G>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1934C>A	12.37:g.99640465G>T	ENSP00000449629:p.Pro645His					ANKS1B_ENST00000547010.1_Missense_Mutation_p.P225H|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P645H	p.P645H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	1933	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	645					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1934C>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272244	0.40194	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.61392	0.92;0.11;0.92	5.25	5.25	0.73442	.	0.140861	0.48286	D	0.000197	T	0.46171	0.1379	N	0.04203	-0.255	0.80722	D	1	P;B	0.50943	0.94;0.41	P;B	0.55161	0.77;0.137	T	0.43458	-0.9390	9	.	.	.	-8.2951	11.8254	0.52265	0.0814:0.0:0.9186:0.0	.	225;645	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	H	645;225;645;224	ENSP00000449629:P645H;ENSP00000448512:P225H;ENSP00000331381:P645H	.	P	-	2	0	ANKS1B	98164596	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.777000	0.62361	2.619000	0.88677	0.462000	0.41574	CCT		0.383	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		21	51	1	0	6.33239e-15	1	7.27488e-15	21	51				
BOC	91653	broad.mit.edu	37	3	112991400	112991400	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:112991400G>A	ENST00000495514.1	+	7	1515	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	BOC_ENST00000355385.3_Missense_Mutation_p.V271I|BOC_ENST00000273395.4_Missense_Mutation_p.V271I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	271	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGTCCAGTGTCACCGGCTA	0.602																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(811-813)Gtc>Atc		BOC cell adhesion associated, oncogene regulated							142.0	139.0	140.0					3																	112991400		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112991400G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.811G>A	3.37:g.112991400G>A	ENSP00000418663:p.Val271Ile					BOC_ENST00000355385.3_Missense_Mutation_p.V271I|BOC_ENST00000273395.4_Missense_Mutation_p.V271I	p.V271I			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		7	1515	+			271			Ig-like C2-type 3.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.811G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	3.542	-0.093466	0.07053	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	2.11	0.27256	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.290034	0.33057	N	0.005330	T	0.30324	0.0761	N	0.02973	-0.45	0.22531	N	0.999014	B;B	0.09022	0.002;0.001	B;B	0.15052	0.007;0.012	T	0.25433	-1.0132	10	0.05351	T	0.99	.	11.1839	0.48644	0.2707:0.0:0.7293:0.0	.	271;271	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	I	271	ENSP00000418663:V271I;ENSP00000273395:V271I;ENSP00000347546:V271I	ENSP00000273395:V271I	V	+	1	0	BOC	114474090	0.993000	0.37304	0.297000	0.24988	0.606000	0.37113	2.995000	0.49441	0.577000	0.29470	0.650000	0.86243	GTC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		97	248	0	0	0	1	0	97	248				
KRTAP4-6	81871	broad.mit.edu	37	17	39296329	39296329	+	Silent	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:39296329T>G	ENST00000345847.4	-	1	410	c.411A>C	c.(409-411)ccA>ccC	p.P137P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	137	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ggcagcagGTTGGCTGGCAGC	0.682																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(409-411)ccA>ccC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296329T>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.411A>C	17.37:g.39296329T>G							p.P137P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	410	-			133			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.411A>C	CCDS54125.1																																																																																				0.682	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	31	0	0	0	1	0	4	31				
OR13C2	392376	broad.mit.edu	37	9	107367299	107367299	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:107367299T>C	ENST00000542196.1	-	1	652	c.610A>G	c.(610-612)Aca>Gca	p.T204A		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGAACAATGTTGTGGCCACA	0.398																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(610-612)Aca>Gca		olfactory receptor, family 13, subfamily C, member 2							147.0	140.0	142.0					9																	107367299		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367299T>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.610A>G	9.37:g.107367299T>C	ENSP00000438815:p.Thr204Ala						p.T204A	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	652	-			204					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.610A>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	T	1.832	-0.469515	0.04445	.	.	ENSG00000257019	ENST00000542196	T	0.36878	1.23	3.53	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.427671	0.17121	U	0.186216	T	0.13927	0.0337	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18524	-1.0334	10	0.40728	T	0.16	.	6.7704	0.23591	0.0:0.1179:0.0:0.8821	.	204	Q8NGS9	O13C2_HUMAN	A	204	ENSP00000438815:T204A	ENSP00000438815:T204A	T	-	1	0	OR13C2	106407120	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-1.744000	0.01832	0.445000	0.26639	0.379000	0.24179	ACA		0.398	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		5	202	0	0	0	1	0	5	202				
TK1	7083	broad.mit.edu	37	17	76170975	76170975	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:76170975G>A	ENST00000301634.7	-	7	808	c.570C>T	c.(568-570)ttC>ttT	p.F190F	TK1_ENST00000588734.1_Silent_p.F223F|TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Silent_p.F190F	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	190					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	AGGCCTTCTTGAAGTAGCAGA	0.632																																						ENST00000588734.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(667-669)ttC>ttT		thymidine kinase 1, soluble							44.0	44.0	44.0					17																	76170975		2203	4300	6503	SO:0001819	synonymous_variant	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76170975G>A		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.570C>T	17.37:g.76170975G>A						TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Silent_p.F190F|TK1_ENST00000590862.1_Intron|TK1_ENST00000301634.7_Silent_p.F190F	p.F223F			P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	907	-			190					B2RC58|Q969V0|Q9UMG9	Silent	SNP	ENST00000301634.7	37	c.669C>T	CCDS11754.1																																																																																				0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		19	13	0	0	0	1	0	19	13				
OR5H6	79295	broad.mit.edu	37	3	97983223	97983223	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:97983223G>A	ENST00000383696.2	+	1	136	c.95G>A	c.(94-96)gGa>gAa	p.G32E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCACAGGATTTTTACAT	0.398																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(94-96)gGa>gAa		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							171.0	176.0	174.0					3																	97983223		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983223G>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.95G>A	3.37:g.97983223G>A	ENSP00000373196:p.Gly32Glu					RP11-325B23.2_ENST00000508616.1_lincRNA	p.G32E	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	136	+			32					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.95G>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	14.54	2.564602	0.45694	.	.	ENSG00000230301	ENST00000383696	T	0.00655	5.95	2.19	2.19	0.27852	.	0.000000	0.41938	D	0.000784	T	0.04770	0.0129	M	0.90309	3.105	0.24843	N	0.992459	D	0.89917	1.0	D	0.97110	1.0	T	0.02691	-1.1123	10	0.87932	D	0	.	10.0598	0.42268	0.0:0.0:1.0:0.0	.	32	Q8NGV6	OR5H6_HUMAN	E	32	ENSP00000373196:G32E	ENSP00000373196:G32E	G	+	2	0	OR5H6	99465913	1.000000	0.71417	0.474000	0.27266	0.152000	0.21847	5.534000	0.67167	1.220000	0.43490	0.194000	0.17425	GGA		0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			219	215	0	0	0	1	0	219	215				
ECT2	1894	broad.mit.edu	37	3	172486831	172486831	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:172486831C>T	ENST00000392692.3	+	13	1502	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	ECT2_ENST00000441497.2_Silent_p.S411S|ECT2_ENST00000540509.1_Silent_p.S442S|ECT2_ENST00000427830.1_Silent_p.S411S|ECT2_ENST00000232458.5_Silent_p.S411S|ECT2_ENST00000417960.1_Silent_p.S410S|SNORA72_ENST00000363485.1_RNA	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	442					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTTCTAAAAGCTCCACTCCAG	0.348																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1228-1230)agC>agT		epithelial cell transforming sequence 2 oncogene							107.0	107.0	107.0					3																	172486831		2203	4300	6503	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172486831C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1326C>T	3.37:g.172486831C>T						ECT2_ENST00000232458.5_Silent_p.S411S|ECT2_ENST00000540509.1_Silent_p.S442S|ECT2_ENST00000441497.2_Silent_p.S411S|ECT2_ENST00000427830.1_Silent_p.S411S|ECT2_ENST00000392692.3_Silent_p.S442S	p.S410S	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		13	1707	+	Ovarian(172;0.00197)|Breast(254;0.158)		411					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.1230C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952057	0.18431	.	.	ENSG00000114346	ENST00000444250	.	.	.	5.07	1.44	0.22558	.	.	.	.	.	T	0.51109	0.1655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34950	-0.9808	4	.	.	.	-9.831	4.7062	0.12851	0.1397:0.3415:0.0:0.5189	.	.	.	.	V	85	.	.	A	+	2	0	ECT2	173969525	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	0.653000	0.24902	0.067000	0.16545	-0.302000	0.09304	GCT		0.348	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		42	89	0	0	0	1	0	42	89				
NFU1	27247	broad.mit.edu	37	2	69627580	69627580	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:69627580G>A	ENST00000410022.2	-	7	841	c.636C>T	c.(634-636)agC>agT	p.S212S	NFU1_ENST00000303698.3_Silent_p.S188S|NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Silent_p.S71S|NFU1_ENST00000462320.1_Silent_p.S71S	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	212	NifU.				iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AACTAGGGCAGCTGGTACAAG	0.438																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(634-636)agC>agT		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							167.0	157.0	161.0					2																	69627580		2203	4300	6503	SO:0001819	synonymous_variant	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69627580G>A	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.636C>T	2.37:g.69627580G>A						NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Silent_p.S71S|NFU1_ENST00000303698.3_Silent_p.S188S|NFU1_ENST00000462320.1_Silent_p.S71S	p.S212S	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN			7	841	-			212			NifU.		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Silent	SNP	ENST00000410022.2	37	c.636C>T	CCDS33217.1																																																																																				0.438	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		57	206	0	0	0	1	0	57	206				
TNR	7143	broad.mit.edu	37	1	175348837	175348837	+	Missense_Mutation	SNP	C	C	T	rs376736413		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:175348837C>T	ENST00000367674.2	-	9	2522	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	TNR_ENST00000263525.2_Missense_Mutation_p.R605H			Q92752	TENR_HUMAN	tenascin R	605	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTTGCTGTGCGAGAACCAAC	0.478																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1813-1815)cGc>cAc		tenascin R		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	76.0	85.0		1814	4.7	1.0	1		85	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNR	NM_003285.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	605/1359	175348837	3,13003	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175348837C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1814G>A	1.37:g.175348837C>T	ENSP00000356646:p.Arg605His					TNR_ENST00000263525.2_Missense_Mutation_p.R605H	p.R605H	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			9	2522	-	Renal(580;0.146)		605			Fibronectin type-III 4.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1814G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528323	0.44969	2.27E-4	2.33E-4	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57907	0.37;0.37	5.59	4.68	0.58851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131490	0.50627	N	0.000103	T	0.41534	0.1163	L	0.36672	1.1	0.41269	D	0.986832	B	0.09022	0.002	B	0.06405	0.002	T	0.29150	-1.0021	10	0.42905	T	0.14	.	10.2962	0.43625	0.0:0.8484:0.0:0.1516	.	605	Q92752	TENR_HUMAN	H	605	ENSP00000356646:R605H;ENSP00000263525:R605H	ENSP00000263525:R605H	R	-	2	0	TNR	173615460	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	3.233000	0.51311	1.359000	0.45940	0.655000	0.94253	CGC		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	57	0	0	0	1	0	19	57				
NOX3	50508	broad.mit.edu	37	6	155764443	155764443	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:155764443G>A	ENST00000159060.2	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	150	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTAGCTCTCGTTAGGGGTGT	0.562																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(448-450)aaC>aaT		NADPH oxidase 3							121.0	101.0	108.0					6																	155764443		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155764443G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.450C>T	6.37:g.155764443G>A							p.N150N	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	5	552	-		Breast(66;0.0183)	150			Ferric oxidoreductase.		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.450C>T	CCDS5250.1																																																																																				0.562	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			9	39	0	0	0	1	0	9	39				
OR6B3	150681	broad.mit.edu	37	2	240984708	240984708	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:240984708C>A	ENST00000319423.4	-	1	781	c.782G>T	c.(781-783)cGg>cTg	p.R261L	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCCTGGGGCCGGACATACAT	0.542																																						ENST00000319423.4																			0				endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18						c.(781-783)cGg>cTg		olfactory receptor, family 6, subfamily B, member 3							86.0	94.0	91.0					2																	240984708		1970	4144	6114	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240984708C>A		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.782G>T	2.37:g.240984708C>A	ENSP00000322435:p.Arg261Leu						p.R261L	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	781	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	261					Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.782G>T	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	c	15.64	2.894059	0.52121	.	.	ENSG00000178586	ENST00000319423	T	0.36699	1.24	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000722	T	0.58018	0.2093	M	0.73598	2.24	0.31582	N	0.654961	D	0.61697	0.99	D	0.66716	0.946	T	0.66156	-0.5994	10	0.87932	D	0	.	14.6272	0.68629	0.0:1.0:0.0:0.0	.	261	Q8NGW1	OR6B3_HUMAN	L	261	ENSP00000322435:R261L	ENSP00000322435:R261L	R	-	2	0	OR6B3	240633381	0.001000	0.12720	0.795000	0.32087	0.535000	0.34838	0.146000	0.16180	2.540000	0.85666	0.603000	0.83216	CGG		0.542	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			42	61	1	0	4.00102e-26	1	4.70596e-26	42	61				
TRAFD1	10906	broad.mit.edu	37	12	112578678	112578678	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:112578678C>T	ENST00000257604.5	+	5	910	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TRAFD1_ENST00000412615.2_Missense_Mutation_p.S98F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	98					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTAGAACTTTCCATTCTCAAA	0.458																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(292-294)tCc>tTc		TRAF-type zinc finger domain containing 1							87.0	80.0	82.0					12																	112578678		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578678C>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.293C>T	12.37:g.112578678C>T	ENSP00000257604:p.Ser98Phe					TRAFD1_ENST00000412615.2_Missense_Mutation_p.S98F	p.S98F	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	910	+			98					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.293C>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925871	0.73213	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.7	3.8	0.43715	.	0.828720	0.11384	N	0.569465	T	0.47655	0.1457	L	0.43152	1.355	0.09310	N	0.999994	D;D	0.71674	0.998;0.996	D;P	0.65443	0.935;0.875	T	0.43972	-0.9358	10	0.42905	T	0.14	-2.4129	15.708	0.77602	0.0:0.7406:0.2594:0.0	.	98;98	F8VNX8;O14545	.;TRAD1_HUMAN	F	98	ENSP00000396526:S98F;ENSP00000449319:S98F;ENSP00000257604:S98F;ENSP00000450357:S98F	ENSP00000257604:S98F	S	+	2	0	TRAFD1	111063061	0.383000	0.25156	0.702000	0.30337	0.996000	0.88848	1.705000	0.37867	0.702000	0.31825	0.563000	0.77884	TCC		0.458	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		32	120	0	0	0	1	0	32	120				
RBM11	54033	broad.mit.edu	37	21	15599512	15599512	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr21:15599512G>C	ENST00000400577.3	+	5	753	c.744G>C	c.(742-744)aaG>aaC	p.K248N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	248					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATAAACGAAAGAGACAAAAGC	0.403																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(742-744)aaG>aaC		RNA binding motif protein 11							203.0	197.0	199.0					21																	15599512		1948	4151	6099	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599512G>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.744G>C	21.37:g.15599512G>C	ENSP00000383421:p.Lys248Asn					RBM11_ENST00000468643.1_3'UTR	p.K248N	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	753	+			248					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.744G>C	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176875	0.57692	.	.	ENSG00000185272	ENST00000400577	T	0.11169	2.8	4.99	1.16	0.20824	.	.	.	.	.	T	0.21550	0.0519	M	0.64997	1.995	0.36162	D	0.848153	D	0.89917	1.0	D	0.83275	0.996	T	0.30208	-0.9986	9	0.07990	T	0.79	-29.6881	9.1868	0.37176	0.3177:0.0:0.6823:0.0	.	248	P57052	RBM11_HUMAN	N	248	ENSP00000383421:K248N	ENSP00000383421:K248N	K	+	3	2	RBM11	14521383	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.689000	0.37700	0.358000	0.24211	-0.145000	0.13849	AAG		0.403	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		48	203	0	0	0	1	0	48	203				
KRTAP4-1	85285	broad.mit.edu	37	17	39341000	39341000	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:39341000C>A	ENST00000398472.1	-	1	594	c.107G>T	c.(106-108)tGc>tTc	p.C36F				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	36	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCAGCAACAGGT	0.617																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(106-108)tGc>tTc		keratin associated protein 4-1							27.0	31.0	30.0					17																	39341000		2179	4288	6467	SO:0001583	missense	85285					keratin filament		g.chr17:39341000C>A	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.107G>T	17.37:g.39341000C>A	ENSP00000381489:p.Cys36Phe						p.C36F			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	594	-		Breast(137;0.000496)	36			18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.107G>T		.	.	.	.	.	.	.	.	.	.	C	3.110	-0.182774	0.06340	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01347	4.99	4.26	-2.34	0.06704	.	.	.	.	.	T	0.01156	0.0038	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.44982	-0.9292	8	0.52906	T	0.07	.	4.6327	0.12509	0.0:0.3107:0.2932:0.3961	.	36	Q9BYQ7	KRA41_HUMAN	F	32;36;36	ENSP00000381489:C36F	ENSP00000335483:C36F	C	-	2	0	KRTAP4-2;KRTAP4-1	36594526	0.000000	0.05858	0.003000	0.11579	0.402000	0.30811	-0.258000	0.08733	-0.604000	0.05760	0.467000	0.42956	TGC		0.617	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		15	46	1	0	6.72482e-11	1	7.41532e-11	15	46				
SI	6476	broad.mit.edu	37	3	164737395	164737395	+	Missense_Mutation	SNP	G	G	A	rs202077921	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:164737395G>A	ENST00000264382.3	-	28	3480	c.3418C>T	c.(3418-3420)Cct>Tct	p.P1140S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1140	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTACACCAGGGGGTTGGTCT	0.443										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3418-3420)Cct>Tct		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						125.0	116.0	119.0					3																	164737395		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737395G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3418C>T	3.37:g.164737395G>A	ENSP00000264382:p.Pro1140Ser	HNSCC(35;0.089)					p.P1140S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			28	3480	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1140			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3418C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855585	0.71834	.	.	ENSG00000090402	ENST00000264382	D	0.85339	-1.97	4.6	4.6	0.57074	Glycoside hydrolase-type carbohydrate-binding (1);	0.059945	0.64402	N	0.000002	D	0.84561	0.5499	M	0.62154	1.92	0.80722	D	1	P	0.45474	0.859	B	0.41374	0.355	D	0.87443	0.2396	10	0.66056	D	0.02	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	1140	P14410	SUIS_HUMAN	S	1140	ENSP00000264382:P1140S	ENSP00000264382:P1140S	P	-	1	0	SI	166220089	1.000000	0.71417	0.962000	0.40283	0.956000	0.61745	8.947000	0.93000	2.528000	0.85240	0.591000	0.81541	CCT		0.443	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		30	97	0	0	0	1	0	30	97				
CHST12	55501	broad.mit.edu	37	7	2473414	2473414	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:2473414G>T	ENST00000258711.6	+	2	1275	c.1140G>T	c.(1138-1140)tgG>tgT	p.W380C		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	380				W -> C (in Ref. 1; AAF81692). {ECO:0000305}.	carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AGGAGGACTGGTTCGCCAAGA	0.642																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1138-1140)tgG>tgT		carbohydrate (chondroitin 4) sulfotransferase 12							45.0	48.0	47.0					7																	2473414		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473414G>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1140G>T	7.37:g.2473414G>T	ENSP00000258711:p.Trp380Cys						p.W380C	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1275	+		Ovarian(82;0.0253)	380	W -> C (in Ref. 1; AAF81692).				A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.1140G>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961743	0.74016	.	.	ENSG00000136213	ENST00000258711	T	0.38401	1.14	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69209	-0.5205	10	0.66056	D	0.02	-9.672	18.6277	0.91347	0.0:0.0:1.0:0.0	.	380	Q9NRB3	CHSTC_HUMAN	C	380	ENSP00000258711:W380C	ENSP00000258711:W380C	W	+	3	0	CHST12	2439940	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.575000	0.98187	2.417000	0.82017	0.561000	0.74099	TGG		0.642	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		31	16	1	0	1.16021e-09	1	1.2514e-09	31	16				
UBR2	23304	broad.mit.edu	37	6	42600362	42600362	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:42600362C>G	ENST00000372899.1	+	12	1612	c.1354C>G	c.(1354-1356)Cga>Gga	p.R452G	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.R452G	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	452					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGAGACATCGAGATGCCCA	0.363																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1354-1356)Cga>Gga		ubiquitin protein ligase E3 component n-recognin 2							69.0	70.0	70.0					6																	42600362		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42600362C>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1354C>G	6.37:g.42600362C>G	ENSP00000361990:p.Arg452Gly					UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.R452G	p.R452G	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		12	1612	+	Colorectal(47;0.196)		452					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1354C>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367396	0.61513	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.57752	0.38;0.38	5.26	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.959	D;P	0.68483	0.958;0.532	T	0.55068	-0.8198	10	0.19590	T	0.45	-11.7239	15.0854	0.72148	0.1473:0.8527:0.0:0.0	.	452;452	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	G	452	ENSP00000361990:R452G;ENSP00000361992:R452G	ENSP00000361990:R452G	R	+	1	2	UBR2	42708340	0.982000	0.34865	0.993000	0.49108	0.999000	0.98932	1.750000	0.38329	1.276000	0.44395	0.655000	0.94253	CGA		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		19	43	0	0	0	1	0	19	43				
SULF1	23213	broad.mit.edu	37	8	70539521	70539521	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:70539521A>G	ENST00000260128.4	+	16	2644	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SULF1_ENST00000402687.4_Missense_Mutation_p.K643E|SULF1_ENST00000458141.2_Missense_Mutation_p.K643E|SULF1_ENST00000419716.3_Missense_Mutation_p.K643E|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	643					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGGACCATAAGGCATACAT	0.463																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1927-1929)Aag>Gag		sulfatase 1							142.0	122.0	129.0					8																	70539521		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70539521A>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1927A>G	8.37:g.70539521A>G	ENSP00000260128:p.Lys643Glu					SULF1_ENST00000458141.2_Missense_Mutation_p.K643E|SULF1_ENST00000419716.3_Missense_Mutation_p.K643E|SULF1_ENST00000402687.4_Missense_Mutation_p.K643E|SULF1_ENST00000521946.1_3'UTR	p.K643E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		16	2644	+	Breast(64;0.0654)		643					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1927A>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548969	0.86127	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	6.04	6.04	0.98038	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.83603	2.65	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	D	0.98891	1.0773	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	643	Q8IWU6	SULF1_HUMAN	E	643	ENSP00000403040:K643E;ENSP00000260128:K643E;ENSP00000385704:K643E;ENSP00000390315:K643E	ENSP00000260128:K643E	K	+	1	0	SULF1	70702075	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	8.798000	0.91888	2.317000	0.78254	0.460000	0.39030	AAG		0.463	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		15	29	0	0	0	1	0	15	29				
ZNF430	80264	broad.mit.edu	37	19	21240550	21240550	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:21240550A>T	ENST00000261560.5	+	5	1617	c.1436A>T	c.(1435-1437)cAt>cTt	p.H479L	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	479					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGGTAATTCATTCTGGAGAG	0.368																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1435-1437)cAt>cTt		zinc finger protein 430							48.0	52.0	50.0					19																	21240550		2203	4299	6502	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240550A>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1436A>T	19.37:g.21240550A>T	ENSP00000261560:p.His479Leu						p.H479L	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	1617	+			479					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1436A>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	14.90	2.673109	0.47781	.	.	ENSG00000118620	ENST00000261560	T	0.67345	-0.26	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83830	0.5339	H	0.96365	3.81	0.38289	D	0.94265	D;D	0.89917	0.988;1.0	D;D	0.91635	0.98;0.999	T	0.82466	-0.0443	9	0.87932	D	0	.	5.8403	0.18629	1.0:0.0:0.0:0.0	.	478;479	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	L	479	ENSP00000261560:H479L	ENSP00000261560:H479L	H	+	2	0	ZNF430	21032390	1.000000	0.71417	0.051000	0.19133	0.047000	0.14425	6.294000	0.72738	0.378000	0.24764	0.369000	0.22263	CAT		0.368	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		28	76	0	0	0	1	0	28	76				
CLMN	79789	broad.mit.edu	37	14	95669937	95669937	+	Silent	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:95669937A>G	ENST00000298912.4	-	9	1862	c.1749T>C	c.(1747-1749)gtT>gtC	p.V583V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	583					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGGTGAAGGAACTTTGTTGA	0.398																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1747-1749)gtT>gtC		calmin (calponin-like, transmembrane)							86.0	85.0	85.0					14																	95669937		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95669937A>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1749T>C	14.37:g.95669937A>G							p.V583V	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1862	-			583					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.1749T>C	CCDS9933.1																																																																																				0.398	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			45	100	0	0	0	1	0	45	100				
ZNF276	92822	broad.mit.edu	37	16	89804494	89804494	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:89804494G>A	ENST00000443381.2	+	11	1782	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	ZNF276_ENST00000289816.5_Missense_Mutation_p.R487Q|ZNF276_ENST00000568064.1_3'UTR|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.R348Q	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTGGCCGGCGGTTTGAGAAG	0.597																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1459-1461)cGg>cAg		zinc finger protein 276							70.0	53.0	59.0					16																	89804494		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804494G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1685G>A	16.37:g.89804494G>A	ENSP00000415836:p.Arg562Gln					FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.R562Q|ZNF276_ENST00000446326.2_Missense_Mutation_p.R348Q|ZNF276_ENST00000568064.1_3'UTR	p.R487Q	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1772	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	562					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1460G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747637	0.89663	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.52526	0.66;0.66;0.66	5.75	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.39514	1.22	0.80722	D	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.47251	0.542;0.542;0.542	T	0.47195	-0.9136	10	0.54805	T	0.06	-35.6722	14.0591	0.64788	0.0723:0.0:0.9277:0.0	.	400;562;348	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	Q	348;487;562	ENSP00000415999:R348Q;ENSP00000289816:R487Q;ENSP00000415836:R562Q	ENSP00000289816:R487Q	R	+	2	0	ZNF276	88331995	1.000000	0.71417	0.823000	0.32752	0.908000	0.53690	7.738000	0.84966	1.432000	0.47375	0.561000	0.74099	CGG		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		18	22	0	0	0	1	0	18	22				
ASTL	431705	broad.mit.edu	37	2	96803345	96803345	+	Silent	SNP	G	G	A	rs142516442	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:96803345G>A	ENST00000342380.2	-	2	149	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTTGTCCCCGGAGGCCTGGG	0.602																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(148-150)tcC>tcT		astacin-like metallo-endopeptidase (M12 family)		G		1,4405	2.1+/-5.4	0,1,2202	153.0	134.0	141.0		150	-6.3	0.0	2	dbSNP_134	141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ASTL	NM_001002036.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		50/432	96803345	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96803345G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.150C>T	2.37:g.96803345G>A							p.S50S	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			2	149	-			50						Silent	SNP	ENST00000342380.2	37	c.150C>T	CCDS33249.1																																																																																				0.602	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			60	102	0	0	0	1	0	60	102				
CSMD3	114788	broad.mit.edu	37	8	113529452	113529452	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:113529452A>G	ENST00000297405.5	-	28	4811	c.4567T>C	c.(4567-4569)Tct>Cct	p.S1523P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1483P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1523P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1419P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1523	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGGCAACAGAACCTATCAAA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4567-4569)Tct>Cct		CUB and Sushi multiple domains 3							40.0	37.0	38.0					8																	113529452		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529452A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4567T>C	8.37:g.113529452A>G	ENSP00000297405:p.Ser1523Pro	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.S1419P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1483P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1523P	p.S1523P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4811	-			1523			CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4567T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681710	0.68042	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	4.56	4.56	0.56223	CUB (2);	0.000000	0.64402	D	0.000002	T	0.75982	0.3924	M	0.86178	2.8	0.39733	D	0.971634	D;D;P	0.76494	0.999;0.997;0.919	D;D;P	0.69142	0.962;0.916;0.628	T	0.78879	-0.2030	10	0.36615	T	0.2	.	14.0588	0.64786	1.0:0.0:0.0:0.0	.	1419;1523;1483	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	1483;1523;863;1419;1523	ENSP00000345799:S1483P;ENSP00000297405:S1523P;ENSP00000341558:S863P;ENSP00000412263:S1419P;ENSP00000343124:S1523P	ENSP00000297405:S1523P	S	-	1	0	CSMD3	113598628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.670000	0.91168	1.895000	0.54865	0.477000	0.44152	TCT		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	68	0	0	0	1	0	4	68				
GFI1B	8328	broad.mit.edu	37	9	135865147	135865147	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:135865147C>T	ENST00000339463.3	+	10	1486	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	GFI1B_ENST00000534944.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223C|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.R223F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTTCGAGTGCCGCATGTGCGG	0.682																																						ENST00000339463.3																			1	Substitution - Missense(1)	p.R223F(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(667-669)Cgc>Tgc		growth factor independent 1B transcription repressor							46.0	41.0	43.0					9																	135865147		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865147C>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.667C>T	9.37:g.135865147C>T	ENSP00000344782:p.Arg223Cys					GFI1B_ENST00000372124.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223C|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177C|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177C	p.R223C			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	10	1486	+			223			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.667C>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131344	0.77549	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	4.8	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065346	0.64402	D	0.000017	T	0.53190	0.1781	L	0.50919	1.6	0.38670	D	0.952299	P;P	0.49253	0.903;0.921	P;P	0.55303	0.663;0.773	T	0.60342	-0.7282	10	0.87932	D	0	-25.6719	10.706	0.45956	0.5922:0.4078:0.0:0.0	.	177;223	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	C	177;223;223;177;177;223	ENSP00000361197:R177C;ENSP00000344782:R223C;ENSP00000409546:R223C;ENSP00000446134:R177C;ENSP00000361196:R177C;ENSP00000361195:R223C	ENSP00000344782:R223C	R	+	1	0	GFI1B	134854968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.728000	0.54991	1.095000	0.41419	0.591000	0.81541	CGC		0.682	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		5	39	0	0	0	1	0	5	39				
HS6ST2	90161	broad.mit.edu	37	X	132092430	132092430	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:132092430G>A	ENST00000370836.2	-	2	616	c.201C>T	c.(199-201)ctC>ctT	p.L67L	HS6ST2_ENST00000521489.1_Silent_p.L67L|HS6ST2_ENST00000370833.2_5'Flank	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	67					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCTTGTCCAGGAGCGGCCGGG	0.721																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(199-201)ctC>ctT		heparan sulfate 6-O-sulfotransferase 2							7.0	10.0	9.0					X																	132092430		1767	3907	5674	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:132092430G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.201C>T	X.37:g.132092430G>A						HS6ST2_ENST00000521489.1_Silent_p.L67L	p.L67L	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			2	616	-	Acute lymphoblastic leukemia(192;0.000127)		67					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.201C>T	CCDS48169.1																																																																																				0.721	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		3	11	0	0	0	1	0	3	11				
DLX1	1745	broad.mit.edu	37	2	172950420	172950420	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:172950420C>T	ENST00000361725.4	+	1	467	c.15C>T	c.(13-15)acC>acT	p.T5T	DLX1_ENST00000341900.6_Silent_p.T5T	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	5					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCATGACCACCATGCCAGAAA	0.572																																						ENST00000361725.4																			0				central_nervous_system(1)|lung(4)|prostate(1)	6						c.(13-15)acC>acT		distal-less homeobox 1							119.0	126.0	124.0					2																	172950420		2203	4300	6503	SO:0001819	synonymous_variant	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172950420C>T	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.15C>T	2.37:g.172950420C>T						DLX1_ENST00000341900.6_Silent_p.T5T	p.T5T	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	467	+			5					D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	37	c.15C>T	CCDS2247.2																																																																																				0.572	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		4	78	0	0	0	1	0	4	78				
PDE2A	5138	broad.mit.edu	37	11	72290045	72290045	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:72290045C>T	ENST00000334456.5	-	28	2610	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	PDE2A_ENST00000444035.2_Missense_Mutation_p.D780N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D780N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D533N|PDE2A_ENST00000544570.1_Missense_Mutation_p.D782N|PDE2A_ENST00000418754.2_Missense_Mutation_p.D674N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	789	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTGTTTCGGTCGTAGCCCACT	0.597																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2365-2367)Gac>Aac		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						178.0	149.0	159.0					11																	72290045		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290045C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2365G>A	11.37:g.72290045C>T	ENSP00000334910:p.Asp789Asn					PDE2A_ENST00000444035.2_Missense_Mutation_p.D780N|PDE2A_ENST00000418754.2_Missense_Mutation_p.D674N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D533N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D780N|PDE2A_ENST00000544570.1_Missense_Mutation_p.D782N	p.D789N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		28	2610	-			789			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2365G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861925	0.51482	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501	T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.64	5.64	0.86602	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.059444	0.64402	D	0.000004	T	0.68430	0.3000	L	0.31120	0.905	0.58432	D	0.999992	B;B;B;B;B;B	0.23735	0.043;0.004;0.038;0.09;0.004;0.013	B;B;B;B;B;B	0.17722	0.019;0.013;0.013;0.014;0.013;0.009	T	0.62544	-0.6832	10	0.22109	T	0.4	.	18.2935	0.90138	0.0:1.0:0.0:0.0	.	674;789;780;782;789;533	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	N	789;533;780;858;782;674;780;168	ENSP00000334910:D789N;ENSP00000365633:D533N;ENSP00000411657:D780N;ENSP00000442256:D782N;ENSP00000410310:D674N;ENSP00000446399:D780N;ENSP00000388997:D168N	ENSP00000334910:D789N	D	-	1	0	PDE2A	71967693	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.377000	0.66184	2.664000	0.90586	0.655000	0.94253	GAC		0.597	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		9	18	0	0	0	1	0	9	18				
PRDM16	63976	broad.mit.edu	37	1	3328721	3328721	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:3328721G>T	ENST00000270722.5	+	9	2009	c.1960G>T	c.(1960-1962)Gcg>Tcg	p.A654S	PRDM16_ENST00000441472.2_Missense_Mutation_p.A654S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.A655S|PRDM16_ENST00000378398.3_Missense_Mutation_p.A655S|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654S|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654S|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	654					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCGGCTTGGCGCCCCCGGG	0.682			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1963-1965)Gcg>Tcg		PR domain containing 16							26.0	36.0	33.0					1																	3328721		1928	4113	6041	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328721G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1960G>T	1.37:g.3328721G>T	ENSP00000270722:p.Ala654Ser					PRDM16_ENST00000511072.1_Missense_Mutation_p.A655S|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654S|PRDM16_ENST00000514189.1_Missense_Mutation_p.A655S|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654S|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654S|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654S|PRDM16_ENST00000512462.1_3'UTR	p.A655S			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	2045	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	654					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1963G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	4.226	0.040797	0.08196	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.04970	3.55;3.56;3.58;3.57;3.56;3.57;3.58;3.53;3.52	5.09	5.09	0.68999	.	0.701207	0.11727	U	0.535323	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.32245	0.001;0.277;0.008;0.361	B;B;B;B	0.37888	0.002;0.26;0.008;0.133	T	0.46176	-0.9210	10	0.38643	T	0.18	.	18.4845	0.90824	0.0:0.0:1.0:0.0	.	654;654;654;654	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	S	655;655;654;654;654;655;654;470;470;463	ENSP00000426975:A655S;ENSP00000367651:A655S;ENSP00000407968:A654S;ENSP00000405253:A654S;ENSP00000367643:A654S;ENSP00000421400:A655S;ENSP00000270722:A654S;ENSP00000422504:A470S;ENSP00000425796:A463S	ENSP00000270722:A654S	A	+	1	0	PRDM16	3318581	0.567000	0.26626	0.004000	0.12327	0.030000	0.12068	3.727000	0.54984	2.375000	0.81037	0.603000	0.83216	GCG		0.682	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		19	45	1	0	0.00074312	1	0.000764795	19	45				
FBN1	2200	broad.mit.edu	37	15	48707938	48707938	+	Missense_Mutation	SNP	T	T	A	rs143677764		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:48707938T>A	ENST00000316623.5	-	64	8301	c.7846A>T	c.(7846-7848)Atc>Ttc	p.I2616F	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2616	EGF-like 46; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTCCGCAGATGTGAGCGCTG	0.532																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM077250	FBN1	M	rs143677764	c.(7846-7848)Atc>Ttc		fibrillin 1							80.0	75.0	77.0					15																	48707938		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707938T>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7846A>T	15.37:g.48707938T>A	ENSP00000325527:p.Ile2616Phe					FBN1_ENST00000561429.1_5'UTR	p.I2616F	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8301	-		all_lung(180;0.00279)	2616			EGF-like 46; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7846A>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083817	0.76642	.	.	ENSG00000166147	ENST00000316623	D	0.92149	-2.98	5.81	3.54	0.40534	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.246009	0.41194	D	0.000921	D	0.88040	0.6330	L	0.39397	1.21	0.80722	D	1	P	0.48998	0.918	P	0.46629	0.522	D	0.84515	0.0624	10	0.35671	T	0.21	.	7.1029	0.25348	0.0:0.2524:0.0:0.7476	.	2616	P35555	FBN1_HUMAN	F	2616	ENSP00000325527:I2616F	ENSP00000325527:I2616F	I	-	1	0	FBN1	46495230	1.000000	0.71417	0.977000	0.42913	0.783000	0.44284	1.540000	0.36115	1.038000	0.40049	0.533000	0.62120	ATC		0.532	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			30	87	0	0	0	1	0	30	87				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	101	0	0	0	1	0	5	101				
GPR110	266977	broad.mit.edu	37	6	46982566	46982566	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:46982566T>C	ENST00000371253.2	-	9	993	c.778A>G	c.(778-780)Att>Gtt	p.I260V	GPR110_ENST00000283297.5_Missense_Mutation_p.I63V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	260					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCAAAGACAATGTCATTACAC	0.428																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(778-780)Att>Gtt		G protein-coupled receptor 110							58.0	51.0	53.0					6																	46982566		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46982566T>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.778A>G	6.37:g.46982566T>C	ENSP00000360299:p.Ile260Val					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I63V	p.I260V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			9	993	-			260					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.778A>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	3.078	-0.189541	0.06299	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.31769	1.51;1.48	6.16	-3.96	0.04106	.	0.723942	0.12930	N	0.427472	T	0.07234	0.0183	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44081	-0.9351	10	0.07813	T	0.8	0.0243	6.1315	0.20207	0.0:0.2936:0.3929:0.3135	.	260	Q5T601	GP110_HUMAN	V	260;260;63	ENSP00000360299:I260V;ENSP00000283297:I63V	ENSP00000283297:I63V	I	-	1	0	GPR110	47090525	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.880000	0.04183	-0.541000	0.06257	-1.136000	0.01936	ATT		0.428	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		14	19	0	0	0	1	0	14	19				
LRIF1	55791	broad.mit.edu	37	1	111495093	111495093	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:111495093T>C	ENST00000369763.4	-	2	803	c.413A>G	c.(412-414)cAt>cGt	p.H138R	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCACACCATGACTCTGAAC	0.358																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(412-414)cAt>cGt		ligand dependent nuclear receptor interacting factor 1							80.0	85.0	83.0					1																	111495093		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495093T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.413A>G	1.37:g.111495093T>C	ENSP00000358778:p.His138Arg					LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	p.H138R	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	803	-			138					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.413A>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945708	0.34377	.	.	ENSG00000121931	ENST00000369763	T	0.23348	1.91	5.65	4.46	0.54185	.	0.396305	0.25771	N	0.028412	T	0.14614	0.0353	L	0.27053	0.805	0.80722	D	1	P	0.50528	0.936	P	0.50192	0.634	T	0.01666	-1.1300	10	0.45353	T	0.12	-7.9362	10.5995	0.45358	0.0:0.0:0.1613:0.8387	.	138	Q5T3J3	LRIF1_HUMAN	R	138	ENSP00000358778:H138R	ENSP00000358778:H138R	H	-	2	0	LRIF1	111296616	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.363000	0.44178	2.159000	0.67721	0.383000	0.25322	CAT		0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		32	54	0	0	0	1	0	32	54				
CRB1	23418	broad.mit.edu	37	1	197297973	197297973	+	Missense_Mutation	SNP	G	G	C	rs398124615		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:197297973G>C	ENST00000367400.3	+	2	627	c.492G>C	c.(490-492)caG>caC	p.Q164H	CRB1_ENST00000538660.1_Missense_Mutation_p.Q164H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q164H|CRB1_ENST00000535699.1_Missense_Mutation_p.Q95H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	164	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCGTGTGCCAGGATGGAATTG	0.512																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(490-492)caG>caC		crumbs homolog 1 (Drosophila)							82.0	64.0	70.0					1																	197297973		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297973G>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.492G>C	1.37:g.197297973G>C	ENSP00000356370:p.Gln164His					CRB1_ENST00000535699.1_Missense_Mutation_p.Q95H|CRB1_ENST00000538660.1_Missense_Mutation_p.Q164H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q164H	p.Q164H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	627	+			164			EGF-like 4; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.492G>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	5.176	0.217983	0.09810	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.26	5.73	2.34	0.29019	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89259	0.6664	N	0.13043	0.29	0.33079	D	0.536401	D;D;P;D;D	0.76494	0.998;0.996;0.857;0.999;0.999	D;P;B;D;D	0.91635	0.971;0.878;0.409;0.999;0.983	D	0.85106	0.0960	9	0.14252	T	0.57	.	7.0839	0.25247	0.2952:0.1252:0.5796:0.0	.	164;95;164;164;189	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	H	95;164;164;164	ENSP00000438786:Q95H;ENSP00000438091:Q164H;ENSP00000356370:Q164H;ENSP00000356369:Q164H	ENSP00000356369:Q164H	Q	+	3	2	CRB1	195564596	0.991000	0.36638	0.980000	0.43619	0.301000	0.27625	0.289000	0.18957	0.861000	0.35504	0.655000	0.94253	CAG		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		10	44	0	0	0	1	0	10	44				
MEMO1	51072	broad.mit.edu	37	2	32108493	32108493	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:32108493C>A	ENST00000295065.5	-	7	928	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	MEMO1_ENST00000379383.3_Missense_Mutation_p.G210W|MEMO1_ENST00000426310.2_Missense_Mutation_p.G184W|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000404530.1_Missense_Mutation_p.G207W|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	207					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TAAATCTCCCCCTGGGATTCA	0.318																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(619-621)Ggg>Tgg		mediator of cell motility 1							164.0	188.0	180.0					2																	32108493		2203	4298	6501	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32108493C>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.619G>T	2.37:g.32108493C>A	ENSP00000295065:p.Gly207Trp					MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000426310.2_Missense_Mutation_p.G184W|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.G210W|MEMO1_ENST00000404530.1_Missense_Mutation_p.G207W	p.G207W	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			7	928	-	Acute lymphoblastic leukemia(172;0.155)		207					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.619G>T	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554686	0.65425	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.61	5.61	0.85477	.	0.046596	0.85682	D	0.000000	T	0.72510	0.3469	M	0.74467	2.265	0.80722	D	1	B;B	0.27498	0.18;0.174	B;B	0.34038	0.137;0.174	T	0.72763	-0.4195	9	0.87932	D	0	-0.9479	19.2313	0.93841	0.0:1.0:0.0:0.0	.	184;207	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	W	207;210;207;184	.	ENSP00000295065:G207W	G	-	1	0	MEMO1	31961997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.667000	0.83888	2.657000	0.90304	0.585000	0.79938	GGG		0.318	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		85	250	1	0	7.15876e-41	1	8.58357e-41	85	250				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	99	0	0	0	1	0	6	99				
PPP1R12A	4659	broad.mit.edu	37	12	80203722	80203722	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:80203722C>G	ENST00000450142.2	-	10	1574	c.1308G>C	c.(1306-1308)tgG>tgC	p.W436C	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.W436C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.W436C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.W349C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.W436C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	436					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTCCTAACCTCCAAGTTGCAG	0.388																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(1306-1308)tgG>tgC		protein phosphatase 1, regulatory subunit 12A							137.0	128.0	130.0					12																	80203722		1862	4096	5958	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80203722C>G	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1308G>C	12.37:g.80203722C>G	ENSP00000389168:p.Trp436Cys					PPP1R12A_ENST00000437004.2_Missense_Mutation_p.W436C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.W436C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.W436C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.W349C	p.W436C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			10	1574	-			436					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1308G>C	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.87|19.87	3.907255|3.907255	0.72868|0.72868	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|T;T;T;T;T;T;T	.|0.62232	.|0.86;0.86;0.89;0.94;0.85;0.82;0.04	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81245|0.81245	0.4782|0.4782	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.997	.|D;D;D;D	.|0.85130	.|0.993;0.977;0.997;0.985	T|T	0.81974|0.81974	-0.0687|-0.0687	5|10	.|0.72032	.|D	.|0.01	.|.	20.1757|20.1757	0.98177|0.98177	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|436;436;436;436	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	A|C	40|436;436;436;436;436;436;436;349;436;436;131	.|ENSP00000261207:W436C;ENSP00000389168:W436C;ENSP00000416769:W436C;ENSP00000449514:W349C;ENSP00000446855:W436C;ENSP00000446816:W436C;ENSP00000450061:W131C	.|ENSP00000261207:W436C	G|W	-|-	2|3	0|0	PPP1R12A|PPP1R12A	78727853|78727853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.324000|7.324000	0.79115|0.79115	2.777000|2.777000	0.95525|0.95525	0.573000|0.573000	0.79308|0.79308	GGA|TGG		0.388	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		18	20	0	0	0	1	0	18	20				
STRADB	55437	broad.mit.edu	37	2	202343121	202343121	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:202343121G>A	ENST00000194530.3	+	10	1232	c.867G>A	c.(865-867)ttG>ttA	p.L289L	STRADB_ENST00000392249.2_Silent_p.L289L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATAGCCCATTGGATATCAGTA	0.388																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(865-867)ttG>ttA		STE20-related kinase adaptor beta							53.0	60.0	58.0					2																	202343121		2201	4296	6497	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202343121G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.867G>A	2.37:g.202343121G>A						STRADB_ENST00000392249.2_Silent_p.L289L	p.L289L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			10	1232	+			289			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.867G>A	CCDS2348.1																																																																																				0.388	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		34	86	0	0	0	1	0	34	86				
RAD51D	5892	broad.mit.edu	37	17	33430519	33430519	+	Silent	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:33430519C>A	ENST00000345365.6	-	7	876	c.621G>T	c.(619-621)tcG>tcT	p.S207S	RAD51D_ENST00000460118.2_Silent_p.S88S|RAD51D_ENST00000590016.1_Silent_p.S227S|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Silent_p.S95S|RAD51L3-RFFL_ENST00000593039.1_Silent_p.S48S|RAD51D_ENST00000394589.4_Silent_p.S207S|RAD51D_ENST00000360276.3_Silent_p.S162S	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	207					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCGCAGTGACCGAGTCCACAA	0.567								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(619-621)tcG>tcT	Direct reversal of damage	RAD51 paralog D							106.0	87.0	94.0					17																	33430519		2203	4300	6503	SO:0001819	synonymous_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430519C>A	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.621G>T	17.37:g.33430519C>A						RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Silent_p.S162S|RAD51D_ENST00000590016.1_Silent_p.S227S|RAD51D_ENST00000460118.2_Silent_p.S88S|RAD51D_ENST00000394589.4_Silent_p.S207S|RAD51L3-RFFL_ENST00000593039.1_Silent_p.S48S|RAD51D_ENST00000335858.7_Silent_p.S95S	p.S207S	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			7	876	-			207					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	c.621G>T	CCDS11287.1																																																																																				0.567	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		24	23	1	0	6.32553e-13	1	7.23336e-13	24	23				
SHROOM4	57477	broad.mit.edu	37	X	50350964	50350964	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:50350964C>T	ENST00000289292.7	-	6	3461	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	SHROOM4_ENST00000376020.2_Missense_Mutation_p.E1060K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E944K			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1060					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGTGACTCTCTGAGAAGGCA	0.562																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3178-3180)Gag>Aag		shroom family member 4							44.0	41.0	42.0					X																	50350964		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350964C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3178G>A	X.37:g.50350964C>T	ENSP00000289292:p.Glu1060Lys					SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1060K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E944K	p.E1060K	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3203	-	Ovarian(276;0.236)		1060					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3178G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827261	0.71143	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.18657	2.63;2.63;2.2	5.65	5.65	0.86999	.	0.139919	0.48286	D	0.000187	T	0.33059	0.0850	L	0.34521	1.04	0.39153	D	0.962254	D	0.67145	0.996	P	0.60609	0.877	T	0.07424	-1.0773	10	0.54805	T	0.06	.	15.9719	0.80027	0.0:1.0:0.0:0.0	.	1060	Q9ULL8	SHRM4_HUMAN	K	1060;1060;944	ENSP00000289292:E1060K;ENSP00000365188:E1060K;ENSP00000421450:E944K	ENSP00000289292:E1060K	E	-	1	0	SHROOM4	50367704	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.535000	0.67173	2.372000	0.80975	0.513000	0.50165	GAG		0.562	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		18	6	0	0	0	1	0	18	6				
FAM73A	374986	broad.mit.edu	37	1	78279491	78279491	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:78279491A>G	ENST00000370791.3	+	6	742	c.710A>G	c.(709-711)gAt>gGt	p.D237G	FAM73A_ENST00000443751.2_Missense_Mutation_p.D199G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	237						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CAGGCTGAAGATGAAGCCTGT	0.393																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(709-711)gAt>gGt		family with sequence similarity 73, member A							175.0	172.0	173.0					1																	78279491		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78279491A>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.710A>G	1.37:g.78279491A>G	ENSP00000359827:p.Asp237Gly					FAM73A_ENST00000443751.2_Missense_Mutation_p.D199G	p.D237G	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	6	742	+			237					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.710A>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809825	0.70797	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23147	1.92;1.92	4.85	4.85	0.62838	.	0.047643	0.85682	D	0.000000	T	0.25306	0.0615	L	0.55481	1.735	0.80722	D	1	P;P;P;P	0.43938	0.787;0.822;0.787;0.822	P;P;B;P	0.53360	0.603;0.724;0.42;0.724	T	0.01961	-1.1239	10	0.22706	T	0.39	-34.1665	14.7262	0.69346	1.0:0.0:0.0:0.0	.	199;237;237;237	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	G	237;199	ENSP00000359827:D237G;ENSP00000393675:D199G	ENSP00000359827:D237G	D	+	2	0	FAM73A	78052079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.052000	0.89448	1.926000	0.55796	0.533000	0.62120	GAT		0.393	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		7	113	0	0	0	1	0	7	113				
ZNF676	163223	broad.mit.edu	37	19	22363783	22363783	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:22363783T>C	ENST00000397121.2	-	3	1053	c.736A>G	c.(736-738)Att>Gtt	p.I246V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	246					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.358																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(736-738)Att>Gtt		zinc finger protein 676							79.0	87.0	84.0					19																	22363783		2177	4289	6466	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363783T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.736A>G	19.37:g.22363783T>C	ENSP00000380310:p.Ile246Val						p.I246V	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1053	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	246					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.736A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.400383	0.25291	.	.	ENSG00000196109	ENST00000397121	T	0.16324	2.35	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14917	0.0360	N	0.03948	-0.315	0.21675	N	0.999599	D	0.54397	0.966	D	0.73380	0.98	T	0.13980	-1.0489	9	0.52906	T	0.07	.	4.0186	0.09655	0.0:0.2571:0.0:0.7429	.	246	Q8N7Q3	ZN676_HUMAN	V	246	ENSP00000380310:I246V	ENSP00000380310:I246V	I	-	1	0	ZNF676	22155623	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.972000	0.03802	0.166000	0.19597	0.164000	0.16699	ATT		0.358	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		9	226	0	0	0	1	0	9	226				
HEXA	3073	broad.mit.edu	37	15	72647899	72647899	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:72647899C>A	ENST00000268097.5	-	3	916		c.e3+1		RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000567159.1_Splice_Site|HEXA_ENST00000429918.2_Splice_Site|HEXA_ENST00000457859.2_Splice_Site	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAATTTGTTACCTCGGAGAGC	0.473																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24	GRCh37	CS941496	HEXA	S		c.e3+1		hexosaminidase A (alpha polypeptide)							86.0	83.0	84.0					15																	72647899		2199	4297	6496	SO:0001630	splice_region_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72647899C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.412+1G>T	15.37:g.72647899C>A						RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Splice_Site|HEXA_ENST00000566304.1_Splice_Site|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site		NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			3	916	-								B4DKE7|E7ENH7|Q53HS8|Q6AI32	Splice_Site	SNP	ENST00000268097.5	37		CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386896	0.82902	.	.	ENSG00000213614	ENST00000268097;ENST00000429918	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8264	0.85933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEXA	70434953	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.966000	0.70395	2.391000	0.81399	0.561000	0.74099	.		0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Intron	35	45	1	0	5.8336e-16	1	6.73318e-16	35	45				
MTTP	4547	broad.mit.edu	37	4	100532497	100532497	+	Missense_Mutation	SNP	C	C	T	rs148696330		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:100532497C>T	ENST00000265517.5	+	14	2079	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.R626C|MTTP_ENST00000511045.1_Missense_Mutation_p.R653C			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	626	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.R626C(1)|p.R626S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGGTAGTCCCCGTTCGGCATC	0.443																																						ENST00000457717.1																			2	Substitution - Missense(2)	p.R626C(1)|p.R626S(1)	large_intestine(1)|lung(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(1876-1878)Cgt>Tgt		microsomal triglyceride transfer protein	Hesperetin(DB01094)	C	CYS/ARG	0,4406		0,0,2203	229.0	215.0	220.0		1876	4.7	0.1	4	dbSNP_134	220	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MTTP	NM_000253.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	626/895	100532497	1,13005	2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532497C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1876C>T	4.37:g.100532497C>T	ENSP00000265517:p.Arg626Cys					MTTP_ENST00000511045.1_Missense_Mutation_p.R653C|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.R626C	p.R626C	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	15	2132	+			626			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1876C>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345403	0.41498	0.0	1.16E-4	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62788	-0.0;0.01;0.01	5.62	4.7	0.59300	Lipid transport protein, N-terminal (1);	0.300723	0.38548	N	0.001652	T	0.35422	0.0931	N	0.08118	0	0.09310	N	0.999999	P;D	0.56968	0.807;0.978	B;B	0.36989	0.238;0.232	T	0.26849	-1.0091	10	0.56958	D	0.05	-29.3378	8.1716	0.31258	0.0:0.6198:0.2805:0.0997	.	653;626	E9PBP6;P55157	.;MTP_HUMAN	C	653;626;626	ENSP00000427679:R653C;ENSP00000400821:R626C;ENSP00000265517:R626C	ENSP00000265517:R626C	R	+	1	0	MTTP	100751520	0.017000	0.18338	0.062000	0.19696	0.003000	0.03518	1.337000	0.33862	1.229000	0.43630	0.655000	0.94253	CGT		0.443	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			42	183	0	0	0	1	0	42	183				
PPFIA2	8499	broad.mit.edu	37	12	81746959	81746959	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:81746959C>T	ENST00000549396.1	-	17	2093	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	PPFIA2_ENST00000549325.1_Missense_Mutation_p.D627N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D212N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D627N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D645N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D546N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D492N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D571N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	645					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTCTGGGCATCGGAATGACCA	0.388																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1933-1935)Gat>Aat		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							153.0	146.0	149.0					12																	81746959		1940	4174	6114	SO:0001583	missense	8499							g.chr12:81746959C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1933G>A	12.37:g.81746959C>T	ENSP00000450337:p.Asp645Asn					PPFIA2_ENST00000550359.2_Missense_Mutation_p.D492N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D212N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D627N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D627N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D571N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D645N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D546N	p.D645N	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			16	2228	-			571					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1933G>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386440	0.95967	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70288	-0.4913	10	0.87932	D	0	-24.7431	19.2605	0.93966	0.0:1.0:0.0:0.0	.	645	O75334	LIPA2_HUMAN	N	645;627;212;571;656;627;645;546;645;226	ENSP00000450337:D645N;ENSP00000450298:D627N;ENSP00000438337:D212N;ENSP00000385093:D571N;ENSP00000327416:D627N;ENSP00000449338:D645N;ENSP00000388373:D546N;ENSP00000447868:D645N;ENSP00000448941:D226N	ENSP00000327416:D627N	D	-	1	0	PPFIA2	80271090	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.765000	0.85310	2.534000	0.85438	0.585000	0.79938	GAT		0.388	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			24	71	0	0	0	1	0	24	71				
HERC2	8924	broad.mit.edu	37	15	28421842	28421842	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:28421842T>A	ENST00000261609.7	-	62	9613	c.9505A>T	c.(9505-9507)Acc>Tcc	p.T3169S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTTCATCGGTCAGAGCCAGG	0.463																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(9505-9507)Acc>Tcc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							181.0	188.0	186.0					15																	28421842		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28421842T>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9505A>T	15.37:g.28421842T>A	ENSP00000261609:p.Thr3169Ser						p.T3169S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	62	9613	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3169						Missense_Mutation	SNP	ENST00000261609.7	37	c.9505A>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.426087	0.62733	.	.	ENSG00000128731	ENST00000261609	T	0.80994	-1.44	5.51	5.51	0.81932	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	L	0.45422	1.42	0.80722	D	1	P	0.40144	0.704	B	0.32724	0.151	T	0.72033	-0.4412	10	0.29301	T	0.29	.	15.627	0.76867	0.0:0.0:0.0:1.0	.	3169	O95714	HERC2_HUMAN	S	3169	ENSP00000261609:T3169S	ENSP00000261609:T3169S	T	-	1	0	HERC2	26095437	1.000000	0.71417	0.995000	0.50966	0.637000	0.38172	8.021000	0.88750	2.102000	0.63906	0.477000	0.44152	ACC		0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		52	191	0	0	0	1	0	52	191				
ANKRD27	84079	broad.mit.edu	37	19	33113490	33113490	+	Silent	SNP	C	C	T	rs138473952		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:33113490C>T	ENST00000306065.4	-	18	1823	c.1665G>A	c.(1663-1665)tcG>tcA	p.S555S		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	555					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAGTCTGCACGACTCCACGT	0.537																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1663-1665)tcG>tcA		ankyrin repeat domain 27 (VPS9 domain)		C		0,4406		0,0,2203	155.0	136.0	142.0		1665	-10.6	0.0	19	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKRD27	NM_032139.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		555/1051	33113490	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113490C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1665G>A	19.37:g.33113490C>T							p.S555S	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1823	-	Esophageal squamous(110;0.137)		555					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1665G>A	CCDS32986.1																																																																																				0.537	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		70	61	0	0	0	1	0	70	61				
HDAC3	8841	broad.mit.edu	37	5	141004838	141004838	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:141004838A>C	ENST00000305264.3	-	14	1233	c.1154T>G	c.(1153-1155)cTg>cGg	p.L385R	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'UTR	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	385					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GTCATAGGTCAGGAGGTCTGC	0.517																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(1153-1155)cTg>cGg		histone deacetylase 3	Vorinostat(DB02546)						237.0	211.0	220.0					5																	141004838		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141004838A>C	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.1154T>G	5.37:g.141004838A>C	ENSP00000302967:p.Leu385Arg					AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_5'UTR	p.L385R	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1233	-			385					D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.1154T>G	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409258	0.83340	.	.	ENSG00000171720	ENST00000305264	T	0.69926	-0.44	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.73257	0.3564	L	0.60957	1.885	0.80722	D	1	D	0.60160	0.987	P	0.56216	0.794	T	0.71331	-0.4625	10	0.29301	T	0.29	-10.2584	14.991	0.71387	1.0:0.0:0.0:0.0	.	385	O15379	HDAC3_HUMAN	R	385	ENSP00000302967:L385R	ENSP00000302967:L385R	L	-	2	0	HDAC3	140985022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.139000	0.94554	2.200000	0.70718	0.460000	0.39030	CTG		0.517	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		12	167	0	0	0	1	0	12	167				
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPD1_ENST00000345042.2_5'Flank|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_3'UTR	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		4	132	0	0	0	1	0	4	132				
MRPS17	51373	broad.mit.edu	37	7	56020902	56020902	+	Missense_Mutation	SNP	G	G	A	rs561047371		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:56020902G>A	ENST00000285298.4	+	2	143	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MRPS17_ENST00000426595.1_Missense_Mutation_p.R100H	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	5					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCGTAGTTCGCTCATCCGTC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18920	0.0		0.0	False		,,,				2504	0.001					ENST00000285298.4																			0				kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(13-15)cGc>cAc		mitochondrial ribosomal protein S17							207.0	186.0	193.0					7																	56020902		2203	4300	6503	SO:0001583	missense	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56020902G>A	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.14G>A	7.37:g.56020902G>A	ENSP00000285298:p.Arg5His					MRPS17_ENST00000426595.1_Missense_Mutation_p.R100H	p.R5H	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	143	+	Breast(14;0.214)		5					Q86X15	Missense_Mutation	SNP	ENST00000285298.4	37	c.14G>A	CCDS5520.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205429	0.22205	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	T	0.00912	5.55	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000048	T	0.00936	0.0031	N	0.19112	0.55	0.43408	D	0.995542	B;B	0.29508	0.001;0.246	B;B	0.17722	0.001;0.019	T	0.75682	-0.3233	10	0.27785	T	0.31	.	17.854	0.88756	0.0:0.0:1.0:0.0	.	5;17	Q9Y2R5;Q8IY71	RT17_HUMAN;.	H	100;5;5	ENSP00000390331:R100H	ENSP00000285298:R5H	R	+	2	0	MRPS17;RP11-15K19.2	55988396	1.000000	0.71417	0.903000	0.35520	0.139000	0.21198	4.579000	0.60936	2.673000	0.90976	0.655000	0.94253	CGC		0.448	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		7	252	0	0	0	1	0	7	252				
SMC2	10592	broad.mit.edu	37	9	106876290	106876290	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:106876290G>A	ENST00000286398.7	+	12	1748	c.1460G>A	c.(1459-1461)cGt>cAt	p.R487H	SMC2_ENST00000303219.8_Missense_Mutation_p.R487H|SMC2_ENST00000374793.3_Missense_Mutation_p.R487H|SMC2_ENST00000374787.3_Missense_Mutation_p.R487H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	487					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAGCTGTCTCGTGATATTGGT	0.343																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1459-1461)cGt>cAt		structural maintenance of chromosomes 2							112.0	131.0	124.0					9																	106876290		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106876290G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1460G>A	9.37:g.106876290G>A	ENSP00000286398:p.Arg487His					SMC2_ENST00000374793.3_Missense_Mutation_p.R487H|SMC2_ENST00000303219.8_Missense_Mutation_p.R487H|SMC2_ENST00000374787.3_Missense_Mutation_p.R487H	p.R487H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			12	1748	+			487					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1460G>A	CCDS35086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.167498|2.167498	0.38315|0.38315	.|.	.|.	ENSG00000136824|ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787|ENST00000536893	D;D;D;D|.	0.86297|.	-2.1;-2.1;-2.1;-2.1|.	5.06|5.06	3.08|3.08	0.35506|0.35506	SMCs flexible hinge (1);RecF/RecN/SMC (1);|.	0.217561|.	0.47455|.	N|.	0.000239|.	T|T	0.51449|0.51449	0.1675|0.1675	L|L	0.42245|0.42245	1.32|1.32	0.35966|0.35966	D|D	0.834933|0.834933	B;B|.	0.11235|.	0.004;0.003|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.61491|0.61491	-0.7052|-0.7052	10|6	0.40728|0.56958	T|D	0.16|0.05	-4.4768|-4.4768	8.5434|8.5434	0.33406|0.33406	0.2035:0.0:0.7965:0.0|0.2035:0.0:0.7965:0.0	.|.	487;487|.	O95347;Q2KQ72|.	SMC2_HUMAN;.|.	H|M	487|367	ENSP00000286398:R487H;ENSP00000363925:R487H;ENSP00000306152:R487H;ENSP00000363919:R487H|.	ENSP00000286398:R487H|ENSP00000444272:V367M	R|V	+|+	2|1	0|0	SMC2|SMC2	105916111|105916111	0.181000|0.181000	0.23161|0.23161	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	1.343000|1.343000	0.33930|0.33930	1.360000|1.360000	0.45960|0.45960	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			56	249	0	0	0	1	0	56	249				
BAGE2	85319	broad.mit.edu	37	21	11049448	11049448	+	RNA	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr21:11049448A>T	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGAAAACTTACTTGCAGTTC	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049448A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049448A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	322	0	0	0	1	0	9	322				
ADRB1	153	broad.mit.edu	37	10	115804440	115804440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:115804440G>A	ENST00000369295.2	+	1	635	c.549G>A	c.(547-549)tgG>tgA	p.W183*		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	183					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCACCGTGTGGGCCATCTCGG	0.701																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(547-549)tgG>tgA		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						44.0	44.0	44.0					10																	115804440		2200	4299	6499	SO:0001587	stop_gained	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804440G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.549G>A	10.37:g.115804440G>A	ENSP00000358301:p.Trp183*						p.W183*	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	635	+		Colorectal(252;0.172)|Breast(234;0.188)	183					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Nonsense_Mutation	SNP	ENST00000369295.2	37	c.549G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	37	6.154712	0.97329	.	.	ENSG00000043591	ENST00000369295	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1083	0.86669	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000358301:W183X	W	+	3	0	ADRB1	115794430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.713000	0.98740	2.024000	0.59613	0.555000	0.69702	TGG		0.701	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			25	23	0	0	0	1	0	25	23				
PCDH11X	27328	broad.mit.edu	37	X	91132770	91132770	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:91132770C>A	ENST00000373094.1	+	2	2376	c.1531C>A	c.(1531-1533)Cct>Act	p.P511T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P511T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P511T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGCTCCACCTGAATTCAG	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1531-1533)Cct>Act		protocadherin 11 X-linked							74.0	62.0	66.0					X																	91132770		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132770C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1531C>A	X.37:g.91132770C>A	ENSP00000362186:p.Pro511Thr					PCDH11X_ENST00000504220.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P511T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P511T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P511T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P511T	p.P511T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2376	+			511			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1531C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.435569	0.01108	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.38	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	0.559722	0.20079	N	0.099684	T	0.20292	0.0488	N	0.02751	-0.505	0.25148	N	0.990446	B;B;B;B;B;B;B;B	0.15719	0.004;0.001;0.011;0.011;0.011;0.014;0.004;0.002	B;B;B;B;B;B;B;B	0.19666	0.005;0.007;0.015;0.015;0.015;0.026;0.005;0.005	T	0.08371	-1.0725	10	0.38643	T	0.18	.	13.1315	0.59385	0.1182:0.7121:0.0:0.1696	.	511;511;511;511;511;511;511;511	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	511	ENSP00000378746:P511T;ENSP00000362186:P511T;ENSP00000362189:P511T;ENSP00000355040:P511T;ENSP00000362180:P511T;ENSP00000423762:P511T;ENSP00000355105:P511T;ENSP00000384758:P511T;ENSP00000298274:P511T	ENSP00000298274:P511T	P	+	1	0	PCDH11X	91019426	0.997000	0.39634	0.875000	0.34327	0.037000	0.13140	0.657000	0.24963	-1.306000	0.02324	-0.296000	0.09543	CCT		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		14	35	1	0	4.36969e-10	1	4.75469e-10	14	35				
IGLV2-8	28817	broad.mit.edu	37	22	23165642	23165642	+	RNA	SNP	G	G	T	rs7510777	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:23165642G>T	ENST00000390317.2	+	0	375				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		TGATTTATGAGGTCAGTAAGC	0.572																																						ENST00000390317.2																			0																				244.0	237.0	239.0					22																	23165642		1885	4092	5977			28817							g.chr22:23165642G>T	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165642G>T														0	375	+									RNA	SNP	ENST00000390317.2	37																																																																																						0.572	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		56	385	1	0	2.26907e-38	1	2.70753e-38	56	385				
RBFOX1	54715	broad.mit.edu	37	16	7383039	7383039	+	Intron	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:7383039G>A	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000355637.4_Missense_Mutation_p.G13S|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G13S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G13S|RBFOX1_ENST00000552089.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCATCCTTATGGCGTGCCTAT	0.493																																					Ovarian(157;934 2567 15163 39509)	ENST00000355637.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(37-39)Ggc>Agc		RNA binding protein, fox-1 homolog (C. elegans) 1							222.0	179.0	193.0					16																	7383039		2197	4300	6497	SO:0001627	intron_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7383039G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185110G>A	16.37:g.7383039G>A						RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G13S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G13S|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron	p.G13S	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN			1	289	+			242					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.37G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086468	0.55861	.	.	ENSG00000078328	ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951	T;T;T	0.27720	1.65;1.84;1.81	5.75	5.75	0.90469	.	0.332477	0.21971	N	0.066443	T	0.26448	0.0646	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.49961	0.877;0.877;0.93;0.877	P;B;P;P	0.47470	0.548;0.446;0.548;0.548	T	0.03597	-1.1021	10	0.62326	D	0.03	-1.3217	14.1444	0.65341	0.0712:0.0:0.9288:0.0	.	13;13;13;13	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5	.;.;.;.	S	13	ENSP00000402745:G13S;ENSP00000309117:G13S;ENSP00000347855:G13S	ENSP00000309117:G13S	G	+	1	0	RBFOX1	7323040	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	3.813000	0.55636	2.708000	0.92522	0.650000	0.86243	GGC		0.493	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		102	181	0	0	0	1	0	102	181				
PEG3	5178	broad.mit.edu	37	19	57326923	57326923	+	Missense_Mutation	SNP	G	G	T	rs373249520		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:57326923G>T	ENST00000326441.9	-	10	3250	c.2887C>A	c.(2887-2889)Cgc>Agc	p.R963S	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R963S|PEG3_ENST00000593695.1_Missense_Mutation_p.R837S|PEG3_ENST00000598410.1_Missense_Mutation_p.R839S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	963					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R963C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCGAGGGCGAAATGTTTGT	0.473																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.R963C(2)	upper_aerodigestive_tract(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2887-2889)Cgc>Agc		paternally expressed 3							128.0	121.0	123.0					19																	57326923		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326923G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2887C>A	19.37:g.57326923G>T	ENSP00000326581:p.Arg963Ser					ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R837S|PEG3_ENST00000423103.2_Missense_Mutation_p.R963S|PEG3_ENST00000598410.1_Missense_Mutation_p.R839S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	p.R963S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3250	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	963					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2887C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	4.544	0.100923	0.08731	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	3.99	2.96	0.34315	.	1.162060	0.06312	N	0.702954	T	0.04137	0.0115	L	0.43923	1.385	.	.	.	B;B;B	0.34372	0.451;0.141;0.141	B;B;B	0.32090	0.14;0.018;0.018	T	0.29397	-1.0013	9	0.59425	D	0.04	-2.1652	9.7961	0.40735	0.103:0.0:0.897:0.0	.	839;963;898	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	963	ENSP00000326581:R963S;ENSP00000403051:R963S	ENSP00000326581:R963S	R	-	1	0	ZIM2	62018735	0.143000	0.22626	0.007000	0.13788	0.008000	0.06430	3.068000	0.50018	1.288000	0.44600	0.655000	0.94253	CGC		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			36	122	1	0	4.92203e-23	1	5.73462e-23	36	122				
CSMD3	114788	broad.mit.edu	37	8	113293461	113293461	+	Silent	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:113293461A>G	ENST00000297405.5	-	59	9694	c.9450T>C	c.(9448-9450)ccT>ccC	p.P3150P	CSMD3_ENST00000343508.3_Silent_p.P3110P|CSMD3_ENST00000352409.3_Silent_p.P3080P|CSMD3_ENST00000455883.2_Silent_p.P2981P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3150	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCTAACTGAAGGTCCAGAAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9448-9450)ccT>ccC		CUB and Sushi multiple domains 3							124.0	115.0	118.0					8																	113293461		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113293461A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9450T>C	8.37:g.113293461A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.P2981P|CSMD3_ENST00000343508.3_Silent_p.P3110P|CSMD3_ENST00000352409.3_Silent_p.P3080P	p.P3150P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			59	9694	-			3150			Sushi 23.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9450T>C	CCDS6315.1																																																																																				0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		29	132	0	0	0	1	0	29	132				
KEAP1	9817	broad.mit.edu	37	19	10602745	10602745	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:10602745G>A	ENST00000171111.5	-	3	1380	c.833C>T	c.(832-834)cCg>cTg	p.P278L	KEAP1_ENST00000393623.2_Missense_Mutation_p.P278L|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	278	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CAGGAAGTTCGGCGTCAACGA	0.612																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(832-834)cCg>cTg		kelch-like ECH-associated protein 1							61.0	60.0	61.0					19																	10602745		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602745G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.833C>T	19.37:g.10602745G>A	ENSP00000171111:p.Pro278Leu					KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.P278L	p.P278L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1380	-			278			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.833C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103735	0.94245	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70516	-0.49;-0.49	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.82595	0.5071	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84027	0.0357	10	0.87932	D	0	.	17.1459	0.86766	0.0:0.0:1.0:0.0	.	278	Q14145	KEAP1_HUMAN	L	278	ENSP00000171111:P278L;ENSP00000377245:P278L	ENSP00000171111:P278L	P	-	2	0	KEAP1	10463745	1.000000	0.71417	0.951000	0.38953	0.987000	0.75469	7.675000	0.84002	2.656000	0.90262	0.561000	0.74099	CCG		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		46	35	0	0	0	1	0	46	35				
PIGX	54965	broad.mit.edu	37	3	196449419	196449419	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:196449419A>T	ENST00000421265.1	+	3	240	c.187A>T	c.(187-189)Ata>Tta	p.I63L	PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.I63L|PIGX_ENST00000541663.1_5'UTR			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	104					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		AGAGAGAAACATAACAGAGGT	0.383																																						ENST00000314118.4																			0				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11						c.(187-189)Ata>Tta		phosphatidylinositol glycan anchor biosynthesis, class X							162.0	169.0	166.0					3																	196449419		2203	4300	6503	SO:0001583	missense	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196449419A>T	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.187A>T	3.37:g.196449419A>T	ENSP00000416446:p.Ile63Leu					PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000421265.1_Missense_Mutation_p.I63L|PIGX_ENST00000495440.1_3'UTR	p.I63L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	3	469	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		104					Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37	c.187A>T		.	.	.	.	.	.	.	.	.	.	A	13.04	2.119342	0.37436	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	6.05	-3.49	0.04724	.	0.839620	0.10924	N	0.619110	T	0.08358	0.0208	N	0.10874	0.06	0.58432	D	0.999997	B;B	0.09022	0.002;0.001	B;B	0.10450	0.004;0.005	T	0.41288	-0.9517	10	0.13108	T	0.6	-1.5679	0.3602	0.00363	0.3329:0.2129:0.1416:0.3125	.	104;104	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	L	63;104;63;104;63;63	ENSP00000409073:I63L;ENSP00000376192:I104L;ENSP00000317301:I63L;ENSP00000296333:I104L;ENSP00000416446:I63L;ENSP00000390804:I63L	ENSP00000296333:I104L	I	+	1	0	PIGX	197933816	0.796000	0.28864	0.983000	0.44433	0.998000	0.95712	-0.173000	0.09854	-0.413000	0.07507	0.533000	0.62120	ATA		0.383	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861		54	313	0	0	0	1	0	54	313				
CCDC116	164592	broad.mit.edu	37	22	21989429	21989429	+	Silent	SNP	C	C	T	rs375417414		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:21989429C>T	ENST00000292779.3	+	4	1238	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	CCDC116_ENST00000607942.1_Silent_p.G359G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	359										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCAATGGCGGGCAGCCCT	0.652																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1075-1077)ggC>ggT		coiled-coil domain containing 116		C		0,4406		0,0,2203	32.0	34.0	33.0		1077	-0.2	0.0	22		33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CCDC116	NM_152612.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		359/614	21989429	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	164592							g.chr22:21989429C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1077C>T	22.37:g.21989429C>T							p.G359G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	1238	+	Colorectal(54;0.105)		359					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.1077C>T	CCDS13791.1																																																																																				0.652	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		18	31	0	0	0	1	0	18	31				
CYTH4	27128	broad.mit.edu	37	22	37693680	37693680	+	Missense_Mutation	SNP	G	G	A	rs372562479		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:37693680G>A	ENST00000248901.6	+	5	497	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CYTH4_ENST00000402997.1_Missense_Mutation_p.E104K|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Missense_Mutation_p.E104K	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	104	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GTATAAAGGCGAGGGCCTCAA	0.547																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(310-312)Gag>Aag		cytohesin 4		G	LYS/GLU	0,4406		0,0,2203	102.0	94.0	97.0		310	4.0	1.0	22		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTH4	NM_013385.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/395	37693680	1,13005	2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37693680G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.310G>A	22.37:g.37693680G>A	ENSP00000248901:p.Glu104Lys					CYTH4_ENST00000405206.3_Missense_Mutation_p.E104K|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Missense_Mutation_p.E104K	p.E104K	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			5	497	+			104			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.310G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937065	0.92458	0.0	1.16E-4	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	3.99	3.99	0.46301	SEC7-like (4);	0.107611	0.64402	D	0.000008	T	0.36853	0.0982	M	0.67517	2.055	0.80722	D	1	B;P	0.43750	0.167;0.816	B;B	0.43728	0.08;0.429	T	0.28073	-1.0055	10	0.33940	T	0.23	.	15.216	0.73267	0.0:0.0:1.0:0.0	.	104;117	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	K	104;104;117;104;104	ENSP00000405442:E104K;ENSP00000248901:E104K;ENSP00000385997:E104K;ENSP00000384280:E104K	ENSP00000248901:E104K	E	+	1	0	CYTH4	36023626	1.000000	0.71417	0.956000	0.39512	0.935000	0.57460	9.745000	0.98856	1.909000	0.55274	0.462000	0.41574	GAG		0.547	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			35	104	0	0	0	1	0	35	104				
PCDH10	57575	broad.mit.edu	37	4	134071802	134071802	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:134071802G>A	ENST00000264360.5	+	1	1333	c.507G>A	c.(505-507)ctG>ctA	p.L169L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	169	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTTCTCCCTGGACGTGCAGA	0.637																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(505-507)ctG>ctA		protocadherin 10							68.0	63.0	64.0					4																	134071802		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071802G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.507G>A	4.37:g.134071802G>A							p.L169L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1333	+			169			Cadherin 2.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.507G>A	CCDS34063.1																																																																																				0.637	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		14	71	0	0	0	1	0	14	71				
AOC2	314	broad.mit.edu	37	17	41001261	41001261	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:41001261C>T	ENST00000253799.3	+	2	1774	c.1747C>T	c.(1747-1749)Ctc>Ttc	p.L583F	AOC3_ENST00000308423.2_5'Flank|AOC2_ENST00000452774.2_Missense_Mutation_p.L583F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	583					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACCCCGCTACCTCTACCTGGC	0.607																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1747-1749)Ctc>Ttc		amine oxidase, copper containing 2 (retina-specific)							64.0	72.0	69.0					17																	41001261		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41001261C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1747C>T	17.37:g.41001261C>T	ENSP00000253799:p.Leu583Phe					AOC2_ENST00000452774.2_Missense_Mutation_p.L583F	p.L583F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1774	+		Breast(137;0.000143)	583					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1747C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180191	0.57800	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04015	3.73;3.73	5.15	4.17	0.49024	Copper amine oxidase, C-terminal (3);	0.200948	0.44097	D	0.000493	T	0.16938	0.0407	M	0.86953	2.85	0.46981	D	0.999271	D;P	0.57571	0.98;0.921	P;P	0.61328	0.887;0.642	T	0.30357	-0.9981	10	0.10377	T	0.69	-48.1561	9.8168	0.40858	0.3692:0.5082:0.1226:0.0	.	583;583	O75106;O75106-2	AOC2_HUMAN;.	F	583	ENSP00000253799:L583F;ENSP00000406134:L583F	ENSP00000253799:L583F	L	+	1	0	AOC2	38254787	0.873000	0.30073	1.000000	0.80357	0.752000	0.42762	0.049000	0.14099	1.349000	0.45751	0.655000	0.94253	CTC		0.607	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		23	98	0	0	0	1	0	23	98				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158991674	158991674	+	Splice_Site	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:158991674T>G	ENST00000337808.6	+	1	640		c.e1+2		IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1			IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TCTGACAGTGTAAGTTTTACA	0.408																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.e1+2									119.0	116.0	117.0					3																	158991674		2203	4300	6503	SO:0001630	splice_region_variant	100505385					cytoplasm	identical protein binding|protein binding	g.chr3:158991674T>G		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000337808.6:c.63+2T>G	3.37:g.158991674T>G						IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron		NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			1	640	+									Splice_Site	SNP	ENST00000337808.6	37		CCDS3186.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841350	0.51057	.	.	ENSG00000250588	ENST00000337808;ENST00000412423;ENST00000527095	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9978	0.53214	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCJ-SCHIP1	160474368	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	3.870000	0.56070	2.135000	0.66039	0.528000	0.53228	.		0.408	IQCJ-SCHIP1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352557.1	NM_001197113	Intron	8	57	0	0	0	1	0	8	57				
ALB	213	broad.mit.edu	37	4	74270112	74270112	+	Missense_Mutation	SNP	G	G	A	rs72552709		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:74270112G>A	ENST00000295897.4	+	1	157	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ALB_ENST00000503124.1_5'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.R23H|ALB_ENST00000401494.3_Missense_Mutation_p.R23H|ALB_ENST00000509063.1_Missense_Mutation_p.R23H	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGTGTTTCGTCGAGATGCA	0.368																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	GRCh37	CM910023	ALB	M	rs72552709	c.(67-69)cGt>cAt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						127.0	120.0	122.0					4																	74270112		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74270112G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.68G>A	4.37:g.74270112G>A	ENSP00000295897:p.Arg23His					ALB_ENST00000401494.3_Missense_Mutation_p.R23H|ALB_ENST00000415165.2_Missense_Mutation_p.R23H|ALB_ENST00000509063.1_Missense_Mutation_p.R23H|ALB_ENST00000503124.1_5'UTR	p.R23H	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	157	+	Breast(15;0.00102)		23		R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).|R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.68G>A	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837042	0.71373	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.73789	-0.78;-0.78;0.1;-0.78;0.36	5.55	5.55	0.83447	Serum albumin, N-terminal (2);	0.248418	0.36628	N	0.002498	D	0.84710	0.5532	M	0.82923	2.615	0.23401	N	0.997756	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.76575	0.824;0.975;0.98;0.988	T	0.78262	-0.2272	10	0.87932	D	0	-23.7657	7.9137	0.29806	0.0825:0.1623:0.7552:0.0	.	23;23;23;23	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	H	25;23;23;23;23;23;23	ENSP00000392541:R25H;ENSP00000295897:R23H;ENSP00000401820:R23H;ENSP00000422784:R23H;ENSP00000384695:R23H	ENSP00000295897:R23H	R	+	2	0	ALB	74488976	0.984000	0.35163	1.000000	0.80357	0.968000	0.65278	2.221000	0.42917	2.885000	0.99019	0.655000	0.94253	CGT		0.368	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		23	101	0	0	0	1	0	23	101				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	37	0	0	0	1	0	5	37				
PHTF1	10745	broad.mit.edu	37	1	114240338	114240338	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:114240338T>C	ENST00000369604.1	-	19	2761	c.2278A>G	c.(2278-2280)Att>Gtt	p.I760V	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.I760V|PHTF1_ENST00000369600.1_Missense_Mutation_p.I707V|PHTF1_ENST00000369596.2_Missense_Mutation_p.I707V|PHTF1_ENST00000369598.1_Missense_Mutation_p.I715V			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	760					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGATTTAATTTTCCACAGC	0.383																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2278-2280)Att>Gtt		putative homeodomain transcription factor 1							82.0	80.0	81.0					1																	114240338		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114240338T>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.2278A>G	1.37:g.114240338T>C	ENSP00000358617:p.Ile760Val					PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Missense_Mutation_p.I715V|PHTF1_ENST00000369600.1_Missense_Mutation_p.I707V|PHTF1_ENST00000393357.2_Missense_Mutation_p.I760V|PHTF1_ENST00000369596.2_Missense_Mutation_p.I707V	p.I760V			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	2761	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	760					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.2278A>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384330	0.82792	.	.	ENSG00000116793	ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	T	0.45458	0.1343	L	0.41824	1.3	0.80722	D	1	B	0.28055	0.199	B	0.32533	0.147	T	0.50734	-0.8793	8	0.51188	T	0.08	-12.1874	15.9993	0.80280	0.0:0.0:0.0:1.0	.	760	Q9UMS5	PHTF1_HUMAN	V	760;707;715;707;760	.	ENSP00000358609:I707V	I	-	1	0	PHTF1	114041861	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.366000	0.66122	2.255000	0.74692	0.533000	0.62120	ATT		0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		15	30	0	0	0	1	0	15	30				
TSSK2	23617	broad.mit.edu	37	22	19119690	19119690	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:19119690C>T	ENST00000399635.2	+	1	1370	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGTCAGCCAGCGGCTCCACAT	0.617																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(778-780)Cgg>Tgg		testis-specific serine kinase 2							68.0	58.0	62.0					22																	19119690		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119690C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.778C>T	22.37:g.19119690C>T	ENSP00000382544:p.Arg260Trp					DGCR14_ENST00000252137.6_3'UTR	p.R260W	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1370	+	Colorectal(54;0.0993)		260			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.778C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280845	0.59758	.	.	ENSG00000206203	ENST00000399635	D	0.96885	-4.16	5.7	3.57	0.40892	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	0.47093	D	0.000257	D	0.98909	0.9630	H	0.99143	4.445	0.38596	D	0.950534	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.87932	D	0	.	12.7184	0.57127	0.2985:0.7015:0.0:0.0	.	260	Q96PF2	TSSK2_HUMAN	W	260	ENSP00000382544:R260W	ENSP00000382544:R260W	R	+	1	2	TSSK2	17499690	0.978000	0.34361	1.000000	0.80357	0.704000	0.40688	1.563000	0.36364	0.727000	0.32360	-0.181000	0.13052	CGG		0.617	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			29	70	0	0	0	1	0	29	70				
CCDC129	223075	broad.mit.edu	37	7	31682832	31682832	+	Silent	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:31682832C>A	ENST00000407970.3	+	11	1886	c.1848C>A	c.(1846-1848)gcC>gcA	p.A616A	CCDC129_ENST00000319386.3_Silent_p.A468A|CCDC129_ENST00000409210.1_Silent_p.A524A|CCDC129_ENST00000451887.2_Silent_p.A642A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	616										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTCTGAGGCCCCACGAGAAG	0.488																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1402-1404)gcC>gcA		coiled-coil domain containing 129							119.0	112.0	114.0					7																	31682832		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682832C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1848C>A	7.37:g.31682832C>A						CCDC129_ENST00000409210.1_Silent_p.A524A|CCDC129_ENST00000407970.3_Silent_p.A616A|CCDC129_ENST00000451887.2_Silent_p.A642A	p.A468A			Q6ZRS4	CC129_HUMAN			11	2397	+			616					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1404C>A	CCDS5435.2																																																																																				0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		18	100	1	0	9.16793e-09	1	9.84556e-09	18	100				
RFX7	64864	broad.mit.edu	37	15	56387143	56387143	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:56387143T>C	ENST00000559447.2	-	9	2763	c.2492A>G	c.(2491-2493)cAc>cGc	p.H831R	RFX7_ENST00000422057.1_Missense_Mutation_p.H831R|RFX7_ENST00000423270.1_Missense_Mutation_p.H928R|RFX7_ENST00000317318.6_Missense_Mutation_p.H928R			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	831					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H928L(1)|p.H831L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGGAAGTGTGAGATGACAT	0.502																																						ENST00000423270.1																			2	Substitution - Missense(2)	p.H928L(1)|p.H831L(1)	lung(2)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2782-2784)cAc>cGc		regulatory factor X, 7							105.0	114.0	111.0					15																	56387143		2085	4214	6299	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387143T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2492A>G	15.37:g.56387143T>C	ENSP00000453281:p.His831Arg					RFX7_ENST00000422057.1_Missense_Mutation_p.H831R|RFX7_ENST00000317318.6_Missense_Mutation_p.H928R|RFX7_ENST00000559447.2_Missense_Mutation_p.H831R	p.H928R	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2782	-			831					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2783A>G		.	.	.	.	.	.	.	.	.	.	T	13.94	2.386587	0.42308	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.56941	0.44;0.43;0.44	5.76	5.76	0.90799	.	0.055174	0.64402	D	0.000002	T	0.54367	0.1854	L	0.29908	0.895	0.44627	D	0.997603	D;B	0.67145	0.996;0.1	P;B	0.53649	0.731;0.05	T	0.58951	-0.7545	10	0.72032	D	0.01	-15.0978	15.2489	0.73529	0.0:0.0:0.0:1.0	.	831;831	Q2KHR2;C9JU50	RFX7_HUMAN;.	R	831;928;928	ENSP00000387504:H831R;ENSP00000313299:H928R;ENSP00000397644:H928R	ENSP00000313299:H928R	H	-	2	0	RFX7	54174435	1.000000	0.71417	0.904000	0.35570	0.971000	0.66376	5.716000	0.68437	2.185000	0.69588	0.460000	0.39030	CAC		0.502	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		3	31	0	0	0	1	0	3	31				
CER1	9350	broad.mit.edu	37	9	14720106	14720106	+	Silent	SNP	G	G	A	rs368200307		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:14720106G>A	ENST00000380911.3	-	2	830	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	262					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AAACTCCTGGGATAAAGGAAT	0.463																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(784-786)atC>atT		cerberus 1, DAN family BMP antagonist		G		1,4405		0,1,2202	72.0	69.0	70.0		786	0.0	1.0	9		70	0,8600		0,0,4300	no	coding-synonymous	CER1	NM_005454.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		262/268	14720106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720106G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.786C>T	9.37:g.14720106G>A							p.I262I	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	830	-			262					Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.786C>T	CCDS6476.1																																																																																				0.463	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		41	22	0	0	0	1	0	41	22				
FAM192A	80011	broad.mit.edu	37	16	57188276	57188276	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:57188276C>T	ENST00000309137.8	-	7	949	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	FAM192A_ENST00000564108.1_Missense_Mutation_p.E231K|FAM192A_ENST00000567439.1_Missense_Mutation_p.E231K|FAM192A_ENST00000389447.5_Missense_Mutation_p.E231K|FAM192A_ENST00000566077.1_Missense_Mutation_p.E154K|FAM192A_ENST00000569266.1_Missense_Mutation_p.E231K	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	231						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ATGGTGCCTTCGCTGTCTGAG	0.602																																						ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(691-693)Gaa>Aaa		family with sequence similarity 192, member A							62.0	73.0	69.0					16																	57188276		2041	4201	6242	SO:0001583	missense	80011					nucleus		g.chr16:57188276C>T		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.691G>A	16.37:g.57188276C>T	ENSP00000335808:p.Glu231Lys					FAM192A_ENST00000569266.1_Missense_Mutation_p.E231K|FAM192A_ENST00000567439.1_Missense_Mutation_p.E231K|FAM192A_ENST00000389447.5_Missense_Mutation_p.E231K|FAM192A_ENST00000564108.1_Missense_Mutation_p.E231K|FAM192A_ENST00000566077.1_Missense_Mutation_p.E154K	p.E231K	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			7	949	-			231						Missense_Mutation	SNP	ENST00000309137.8	37	c.691G>A	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154560	0.94686	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.25	4.3	0.51218	.	0.309061	0.39834	N	0.001250	T	0.64670	0.2619	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.68800	-0.5313	9	0.72032	D	0.01	-4.7258	14.1622	0.65454	0.0:0.9282:0.0:0.0718	.	231	Q9GZU8	F192A_HUMAN	K	231	.	ENSP00000335808:E231K	E	-	1	0	FAM192A	55745777	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.498000	0.73679	1.441000	0.47550	0.563000	0.77884	GAA		0.602	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		15	32	0	0	0	1	0	15	32				
HERC6	55008	broad.mit.edu	37	4	89345072	89345072	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:89345072T>G	ENST00000264346.7	+	14	1833	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	HERC6_ENST00000380265.5_Missense_Mutation_p.L592V	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	592					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ACTCTCCAACTTATTAAACTT	0.303																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1774-1776)Tta>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							35.0	34.0	34.0					4																	89345072		1795	4050	5845	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89345072T>G	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1774T>G	4.37:g.89345072T>G	ENSP00000264346:p.Leu592Val					HERC6_ENST00000264346.7_Missense_Mutation_p.L592V	p.L592V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	14	1957	+		Hepatocellular(203;0.114)	592					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1774T>G	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	T	9.315	1.056597	0.19907	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.41400	1.0;1.06	4.77	-5.25	0.02781	.	2.214640	0.01975	N	0.044420	T	0.28034	0.0691	L	0.53249	1.67	0.09310	N	1	B;B	0.33171	0.4;0.278	B;B	0.26969	0.075;0.034	T	0.09975	-1.0650	10	0.18710	T	0.47	.	0.7578	0.01001	0.4427:0.1746:0.129:0.2538	.	592;592	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	V	592	ENSP00000369617:L592V;ENSP00000264346:L592V	ENSP00000264346:L592V	L	+	1	2	HERC6	89564095	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.963000	0.01513	-1.148000	0.02847	0.397000	0.26171	TTA		0.303	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			3	17	0	0	0	1	0	3	17				
PIK3AP1	118788	broad.mit.edu	37	10	98469373	98469373	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:98469373G>A	ENST00000339364.5	-	2	500	c.381C>T	c.(379-381)gaC>gaT	p.D127D		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	127	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGGCTCATCGTCACAGGTGA	0.537																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(379-381)gaC>gaT		phosphoinositide-3-kinase adaptor protein 1							69.0	67.0	68.0					10																	98469373		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98469373G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.381C>T	10.37:g.98469373G>A							p.D127D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	500	-		Colorectal(252;0.0442)	127					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.381C>T	CCDS31259.1																																																																																				0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		36	91	0	0	0	1	0	36	91				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	48	23	1	0	3.21987e-24	1	3.76923e-24	48	23				
SNURF	8926	broad.mit.edu	37	15	25225136	25225136	+	3'UTR	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:25225136C>G	ENST00000551312.2	+	0	426				SNHG14_ENST00000459433.1_RNA|SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000551361.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TATGGATGGCCCTTAGATTTT	0.368																																						ENST00000551631.2																			0																				20.0	19.0	20.0					15																	25225136		876	1990	2866	SO:0001624	3_prime_UTR_variant	104472715							g.chr15:25225136C>G		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*195C>G	15.37:g.25225136C>G								NR_001293.1						0	129	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1	.	.	.	.	.	.	.	.	.	.	C	4.022	0.001489	0.07819	.	.	ENSG00000214265	ENST00000346403	.	.	.	2.24	-1.19	0.09585	.	.	.	.	.	T	0.27419	0.0673	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35822	-0.9773	5	0.87932	D	0	.	0.8549	0.01180	0.2386:0.368:0.2348:0.1587	.	.	.	.	R	102	.	ENSP00000306223:P102R	P	+	2	0	SNURF	22776229	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.991000	0.01478	-0.268000	0.09312	0.561000	0.74099	CCC		0.368	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		4	20	0	0	0	1	0	4	20				
PPP2R3C	55012	broad.mit.edu	37	14	35577278	35577278	+	Intron	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:35577278A>G	ENST00000261475.5	-	5	856				PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L190S	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma						activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAATACTTATAAAAGCACAGA	0.308																																						ENST00000555644.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(568-570)tTa>tCa		protein phosphatase 2, regulatory subunit B'', gamma																																				SO:0001627	intron_variant	55012					centrosome|nucleus	calcium ion binding	g.chr14:35577278A>G	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.502+66T>C	14.37:g.35577278A>G						PPP2R3C_ENST00000261475.5_Intron	p.L190S			Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	5	922	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		0					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.569T>C	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.504324	0.44558	.	.	ENSG00000092020	ENST00000555644	.	.	.	4.99	-0.0667	0.13763	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22208	-1.0223	6	.	.	.	.	5.0144	0.14328	0.4744:0.1638:0.3618:0.0	.	190	Q86US5	.	S	190	.	.	L	-	2	0	PPP2R3C	34647029	0.049000	0.20398	0.001000	0.08648	0.540000	0.34992	0.517000	0.22832	0.030000	0.15379	0.528000	0.53228	TTA		0.308	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		74	28	0	0	0	1	0	74	28				
PNN	5411	broad.mit.edu	37	14	39648653	39648653	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr14:39648653G>A	ENST00000216832.4	+	8	847	c.780G>A	c.(778-780)caG>caA	p.Q260Q	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	260	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGAGTCACAGAGAAAAATGA	0.323																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(778-780)caG>caA		pinin, desmosome associated protein							58.0	61.0	60.0					14																	39648653		2202	4300	6502	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39648653G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.780G>A	14.37:g.39648653G>A						PNN_ENST00000557680.1_3'UTR	p.Q260Q	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	8	847	+	Hepatocellular(127;0.213)		260			Glu-rich.|Necessary for interaction with RNPS1.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.780G>A	CCDS9671.1																																																																																				0.323	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		15	36	0	0	0	1	0	15	36				
TMEM161A	54929	broad.mit.edu	37	19	19232402	19232402	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:19232402G>A	ENST00000162044.9	-	8	796	c.732C>T	c.(730-732)ttC>ttT	p.F244F	TMEM161A_ENST00000450333.2_Silent_p.F141F|TMEM161A_ENST00000587583.2_Silent_p.F219F	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	244					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCAGGCCTGGGAAGGTGAGGA	0.652																																						ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(421-423)ttC>ttT		transmembrane protein 161A							39.0	43.0	42.0					19																	19232402		2203	4299	6502	SO:0001819	synonymous_variant	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19232402G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.732C>T	19.37:g.19232402G>A						TMEM161A_ENST00000162044.9_Silent_p.F244F|TMEM161A_ENST00000587583.2_Silent_p.F219F	p.F141F	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		6	460	-			244					B3KUE0|G5E9M6|Q7L2Y1	Silent	SNP	ENST00000162044.9	37	c.423C>T	CCDS12393.1																																																																																				0.652	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		19	33	0	0	0	1	0	19	33				
TESPA1	9840	broad.mit.edu	37	12	55357715	55357716	+	Nonsense_Mutation	DNP	TG	TG	AC			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:55357715_55357716TG>AC	ENST00000449076.1	-	8	597_598	c.465_466CA>GT	c.(463-468)gaCAaa>gaGTaa	p.155_156DK>E*	TESPA1_ENST00000531122.1_Nonsense_Mutation_p.17_18DK>E*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.155_156DK>E*|TESPA1_ENST00000524622.1_Nonsense_Mutation_p.17_18DK>E*|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.17_18DK>E*	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	155					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCTTGCACTTTGTCCAGAATTT	0.431																																						ENST00000524622.1																			0											c.(52-54)Aaa>Taa|c.(49-51)gaC>gaG		thymocyte expressed, positive selection associated 1																																				SO:0001587	stop_gained	9840							g.chr12:55357715T>A|g.chr12:55357716G>C	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.465_466delinsAC	12.37:g.55357715_55357716delinsAC	ENSP00000400892:p.D155_K156delinsE*					TESPA1_ENST00000449076.1_Nonsense_Mutation_p.K156*|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.K18*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.K18*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.K156*|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000449076.1_Missense_Mutation_p.D155E|TESPA1_ENST00000532804.1_Missense_Mutation_p.D17E|TESPA1_ENST00000531122.1_Missense_Mutation_p.D17E|TESPA1_ENST00000316577.8_Missense_Mutation_p.D155E|TESPA1_ENST00000524959.1_5'UTR	p.K18*|p.D17E	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			6	713|712	-			156|155					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000449076.1	37	c.52A>T|c.51C>G	CCDS44913.1																																																																																				0.431	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		33|31	119|121	0	0	0	1	0	31	119				
OTUD6A	139562	broad.mit.edu	37	X	69283070	69283070	+	Silent	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:69283070C>A	ENST00000338352.2	+	1	730	c.696C>A	c.(694-696)ccC>ccA	p.P232P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	232	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGAAGACCCCCATCGAGGTGA	0.612																																						ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(694-696)ccC>ccA		OTU domain containing 6A							70.0	62.0	65.0					X																	69283070		2203	4300	6503	SO:0001819	synonymous_variant	139562							g.chrX:69283070C>A	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.696C>A	X.37:g.69283070C>A							p.P232P	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	730	+			232			OTU.		B2RPB7	Silent	SNP	ENST00000338352.2	37	c.696C>A	CCDS14395.1																																																																																				0.612	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		22	9	1	0	1.50039e-11	1	1.69222e-11	22	9				
CREM	1390	broad.mit.edu	37	10	35477202	35477202	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:35477202A>G	ENST00000395895.2	+	7	793	c.631A>G	c.(631-633)Aca>Gca	p.T211A	CREM_ENST00000333809.8_Missense_Mutation_p.T211A|CREM_ENST00000395887.3_Missense_Mutation_p.T132A|CREM_ENST00000460270.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000479070.1_Missense_Mutation_p.T162A|CREM_ENST00000374721.3_Intron|CREM_ENST00000463314.1_5'UTR|CREM_ENST00000337656.4_Missense_Mutation_p.T162A|CREM_ENST00000374728.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000429130.3_Missense_Mutation_p.T195A|CREM_ENST00000354759.3_Intron|CREM_ENST00000342105.3_Missense_Mutation_p.T107A|CREM_ENST00000348787.2_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000345491.3_Missense_Mutation_p.T162A|CREM_ENST00000361599.4_Missense_Mutation_p.T132A			Q03060	CREM_HUMAN	cAMP responsive element modulator	211					cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGGCATTAACAATGACAAA	0.453																																						ENST00000333809.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(631-633)Aca>Gca		cAMP responsive element modulator							80.0	78.0	78.0					10																	35477202		2203	4300	6503	SO:0001583	missense	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35477202A>G		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.631A>G	10.37:g.35477202A>G	ENSP00000379232:p.Thr211Ala					CREM_ENST00000345491.3_Missense_Mutation_p.T162A|CREM_ENST00000342105.3_Missense_Mutation_p.T107A|CREM_ENST00000337656.4_Missense_Mutation_p.T162A|CREM_ENST00000354759.3_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000479070.1_Missense_Mutation_p.T162A|CREM_ENST00000348787.2_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_5'UTR|CREM_ENST00000439705.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000429130.3_Missense_Mutation_p.T195A|CREM_ENST00000374721.3_Intron|CREM_ENST00000395887.3_Missense_Mutation_p.T132A|CREM_ENST00000361599.4_Missense_Mutation_p.T132A|CREM_ENST00000395895.2_Missense_Mutation_p.T211A|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron	p.T211A	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN			6	685	+			211					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.631A>G		.	.	.	.	.	.	.	.	.	.	A	17.10	3.303927	0.60305	.	.	ENSG00000095794	ENST00000345491;ENST00000395895;ENST00000333809;ENST00000337656;ENST00000479070;ENST00000429130;ENST00000489627;ENST00000374721;ENST00000374722;ENST00000361599;ENST00000395887;ENST00000494479;ENST00000342105;ENST00000495301	T;T;T;T;T;T;T;T;T;T	0.62364	0.58;0.32;0.03;0.17;0.5;0.39;0.54;0.44;0.95;0.59	5.28	2.94	0.34122	.	0.058297	0.64402	N	0.000002	T	0.68476	0.3005	L	0.42245	1.32	0.80722	D	1	D;D;P;B;D	0.76494	0.994;0.99;0.887;0.298;0.999	D;D;P;B;D	0.80764	0.973;0.979;0.469;0.065;0.994	T	0.64901	-0.6298	10	0.48119	T	0.1	-1.0E-4	9.2419	0.37502	0.85:0.0:0.15:0.0	.	211;107;132;162;162	Q03060-1;Q03060-7;Q03060-12;E9PHM1;Q03060-16	.;.;.;.;.	A	162;211;211;162;162;195;67;195;195;132;132;41;107;41	ENSP00000265372:T162A;ENSP00000379232:T211A;ENSP00000333055:T211A;ENSP00000337138:T162A;ENSP00000420511:T162A;ENSP00000393538:T195A;ENSP00000354593:T132A;ENSP00000379225:T132A;ENSP00000417399:T41A;ENSP00000341875:T107A	ENSP00000333055:T211A	T	+	1	0	CREM	35517208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.913000	0.63341	0.326000	0.23384	0.533000	0.62120	ACA		0.453	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		25	81	0	0	0	1	0	25	81				
ISL1	3670	broad.mit.edu	37	5	50687144	50687144	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:50687144G>T	ENST00000230658.7	+	5	1387	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Intron	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	268	Gln-rich.|LIM-binding domain (LID). {ECO:0000250}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CATGGTGGCTGCCAGTCCAGA	0.527																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(802-804)Gcc>Tcc		ISL LIM homeobox 1							54.0	58.0	57.0					5																	50687144		1930	4134	6064	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50687144G>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.802G>T	5.37:g.50687144G>T	ENSP00000230658:p.Ala268Ser					ISL1_ENST00000511384.1_Intron|ISL1_ENST00000505475.2_3'UTR	p.A268S	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			5	1387	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	268			Gln-rich.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.802G>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	7.378	0.628143	0.14257	.	.	ENSG00000016082	ENST00000230658	D	0.83755	-1.76	5.93	5.93	0.95920	.	0.178244	0.49916	D	0.000140	T	0.48554	0.1506	N	0.00223	-1.815	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62191	-0.6906	10	0.02654	T	1	.	13.7141	0.62687	0.0:0.0:0.731:0.269	.	268	P61371	ISL1_HUMAN	S	268	ENSP00000230658:A268S	ENSP00000230658:A268S	A	+	1	0	ISL1	50722901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.668000	0.61568	2.797000	0.96272	0.655000	0.94253	GCC		0.527	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		6	30	1	0	0.0215528	1	0.0216404	6	30				
PPFIA2	8499	broad.mit.edu	37	12	81746960	81746960	+	Silent	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:81746960G>C	ENST00000549396.1	-	17	2092	c.1932C>G	c.(1930-1932)tcC>tcG	p.S644S	PPFIA2_ENST00000549325.1_Silent_p.S626S|PPFIA2_ENST00000552948.1_Silent_p.S644S|PPFIA2_ENST00000541570.2_Silent_p.S211S|PPFIA2_ENST00000333447.7_Silent_p.S626S|PPFIA2_ENST00000550584.2_Silent_p.S644S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Silent_p.S545S|PPFIA2_ENST00000550359.2_Silent_p.S491S|PPFIA2_ENST00000548586.1_Silent_p.S644S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.S570S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	644					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGGGCATCGGAATGACCAC	0.393																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1930-1932)tcC>tcG		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							157.0	150.0	152.0					12																	81746960		1935	4170	6105	SO:0001819	synonymous_variant	8499							g.chr12:81746960G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1932C>G	12.37:g.81746960G>C						PPFIA2_ENST00000550359.2_Silent_p.S491S|PPFIA2_ENST00000541570.2_Silent_p.S211S|PPFIA2_ENST00000333447.7_Silent_p.S626S|PPFIA2_ENST00000549325.1_Silent_p.S626S|PPFIA2_ENST00000548586.1_Silent_p.S644S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.S644S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.S570S|PPFIA2_ENST00000549396.1_Silent_p.S644S|PPFIA2_ENST00000443686.3_Silent_p.S545S	p.S644S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			16	2227	-			570					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.1932C>G	CCDS55857.1																																																																																				0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			24	71	0	0	0	1	0	24	71				
ACACA	31	broad.mit.edu	37	17	35614747	35614747	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:35614747G>A	ENST00000394406.2	-	14	1783	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ACACA_ENST00000353139.5_Silent_p.F568F|ACACA_ENST00000335166.5_Silent_p.F453F|ACACA_ENST00000360679.3_Silent_p.F473F	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	531	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTGCTGCGGAAATTTAGCT	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1702-1704)ttC>ttT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						90.0	87.0	88.0					17																	35614747		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614747G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1593C>T	17.37:g.35614747G>A						ACACA_ENST00000394406.2_Silent_p.F531F|ACACA_ENST00000335166.5_Silent_p.F453F|ACACA_ENST00000360679.3_Silent_p.F473F	p.F568F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			14	2185	-		Breast(25;0.00157)|Ovarian(249;0.15)	531			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.1704C>T	CCDS11317.1																																																																																				0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		21	90	0	0	0	1	0	21	90				
CNR1	1268	broad.mit.edu	37	6	88854286	88854286	+	Silent	SNP	C	C	T	rs577054667		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:88854286C>T	ENST00000537554.1	-	2	4270	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A|CNR1_ENST00000468898.1_Silent_p.A203A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.A236A(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCAGGCAAAACGCCACCACGG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21363	0.0		0.0	False		,,,				2504	0.0					ENST00000537554.1																			2	Substitution - coding silent(2)	p.A236A(2)	large_intestine(1)|endometrium(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(706-708)gcG>gcA		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						67.0	63.0	64.0					6																	88854286		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854286C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.708G>A	6.37:g.88854286C>T						CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A	p.A236A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4270	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	236					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.708G>A	CCDS5015.1																																																																																				0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			12	36	0	0	0	1	0	12	36				
CD200R1	131450	broad.mit.edu	37	3	112647686	112647686	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:112647686C>T	ENST00000471858.1	-	4	909	c.677G>A	c.(676-678)aGt>aAt	p.S226N	CD200R1_ENST00000295863.4_Missense_Mutation_p.S204N|CD200R1_ENST00000308611.3_Missense_Mutation_p.S249N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	226	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TATGTACAGACTCTTGTTGCC	0.388																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(676-678)aGt>aAt		CD200 receptor 1							92.0	84.0	87.0					3																	112647686		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112647686C>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.677G>A	3.37:g.112647686C>T	ENSP00000418928:p.Ser226Asn					CD200R1_ENST00000308611.3_Missense_Mutation_p.S249N|CD200R1_ENST00000295863.4_Missense_Mutation_p.S204N	p.S226N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			4	909	-			226			Ig-like C2-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.677G>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880558	0.72294	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.44083	0.93;0.93;6.24	5.65	-1.79	0.07932	Immunoglobulin-like (1);	0.700768	0.13928	N	0.353135	T	0.33089	0.0851	L	0.60455	1.87	0.09310	N	0.999999	B;B;P	0.35507	0.305;0.387;0.506	B;B;B	0.36030	0.216;0.123;0.131	T	0.20605	-1.0270	10	0.45353	T	0.12	.	5.3405	0.15981	0.0:0.3777:0.2679:0.3544	.	204;226;249	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	N	226;249;204	ENSP00000418928:S226N;ENSP00000311035:S249N;ENSP00000295863:S204N	ENSP00000295863:S204N	S	-	2	0	CD200R1	114130376	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-1.303000	0.02743	-0.175000	0.10725	0.655000	0.94253	AGT		0.388	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		48	114	0	0	0	1	0	48	114				
MEX3D	399664	broad.mit.edu	37	19	1556840	1556840	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:1556840C>T	ENST00000402693.4	-	2	677	c.678G>A	c.(676-678)gtG>gtA	p.V226V	MEX3D_ENST00000388824.6_Silent_p.V226V|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	226	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGCCGGTCACGATGAAGA	0.662																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(676-678)gtG>gtA		mex-3 RNA binding family member D							32.0	34.0	34.0					19																	1556840		2201	4290	6491	SO:0001819	synonymous_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556840C>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.678G>A	19.37:g.1556840C>T						MEX3D_ENST00000388824.6_Silent_p.V226V	p.V226V	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	677	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	226			KH 1.		A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	ENST00000402693.4	37	c.678G>A	CCDS32865.2																																																																																				0.662	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		20	61	0	0	0	1	0	20	61				
CCDC7	79741	broad.mit.edu	37	10	33137563	33137563	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:33137563G>A	ENST00000375030.2	+	20	2036	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	C10orf68_ENST00000375025.4_Missense_Mutation_p.R578H|C10orf68_ENST00000375028.3_Missense_Mutation_p.R518H			Q9H943	CJ068_HUMAN		514										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCCGTACAACGTCAAGAAGGT	0.294																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1417-1419)cGt>cAt		chromosome 10 open reading frame 68							75.0	74.0	74.0					10																	33137563		2202	4291	6493	SO:0001583	missense	79741							g.chr10:33137563G>A																												ENST00000375030.2:c.1418G>A	10.37:g.33137563G>A	ENSP00000364170:p.Arg473His					C10orf68_ENST00000375028.3_Missense_Mutation_p.R518H|C10orf68_ENST00000375025.4_Missense_Mutation_p.R578H	p.R473H			Q9H943	CJ068_HUMAN			20	2036	+			514					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1418G>A		.	.	.	.	.	.	.	.	.	.	.	1.336	-0.595374	0.03771	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33216	1.44;1.43;1.42;1.42	2.91	-1.59	0.08453	.	.	.	.	.	T	0.13970	0.0338	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.004;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.21621	-1.0240	9	0.45353	T	0.12	.	3.8236	0.08845	0.6849:0.0:0.126:0.1891	.	495;514;518;473	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	H	514;473;518;578;490	ENSP00000303710:R514H;ENSP00000364170:R473H;ENSP00000364168:R518H;ENSP00000364165:R578H	ENSP00000303710:R514H	R	+	2	0	C10orf68	33177569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.575000	0.05861	-0.224000	0.09928	-1.671000	0.00744	CGT		0.294	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			97	132	0	0	0	1	0	97	132				
SDK1	221935	broad.mit.edu	37	7	4008965	4008965	+	Silent	SNP	G	G	T	rs370707319		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:4008965G>T	ENST00000404826.2	+	11	1762	c.1623G>T	c.(1621-1623)gcG>gcT	p.A541A	SDK1_ENST00000389531.3_Silent_p.A541A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	541	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACAGATCGCGCCCGTCTTCA	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1621-1623)gcG>gcT		sidekick cell adhesion molecule 1							174.0	183.0	180.0					7																	4008965		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4008965G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1623G>T	7.37:g.4008965G>T						SDK1_ENST00000389531.3_Silent_p.A541A	p.A541A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1762	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	541			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1623G>T	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		82	175	1	0	3.73172e-31	1	4.43141e-31	82	175				
KMT2C	58508	broad.mit.edu	37	7	151962121	151962121	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:151962121A>T	ENST00000262189.6	-	8	1403		c.e8+1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										ATGAAAACTTACTTGCAGTTC	0.398																																						ENST00000355193.2																			0											c.e8+1		lysine (K)-specific methyltransferase 2C							152.0	141.0	144.0					7																	151962121		2203	4297	6500	SO:0001630	splice_region_variant	58508							g.chr7:151962121A>T	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.1184+1T>A	7.37:g.151962121A>T						KMT2C_ENST00000262189.6_Splice_Site								8	1403	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37		CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686666	0.88639	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1658	0.65475	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151593054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	1.791000	0.52520	0.377000	0.23210	.		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	12	379	0	0	0	1	0	12	379				
SRRD	402055	broad.mit.edu	37	22	26886031	26886031	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:26886031G>A	ENST00000215917.7	+	5	645	c.631G>A	c.(631-633)Ggg>Agg	p.G211R		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	211					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAGTATTCGCGGGGAGCCTAC	0.473																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(631-633)Ggg>Agg		SRR1 domain containing							146.0	138.0	141.0					22																	26886031		1892	4119	6011	SO:0001583	missense	402055				rhythmic process			g.chr22:26886031G>A	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.631G>A	22.37:g.26886031G>A	ENSP00000215917:p.Gly211Arg						p.G211R	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			5	645	+			211					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.631G>A	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777419	0.70107	.	.	ENSG00000100104	ENST00000215917	T	0.46819	0.86	5.41	2.15	0.27550	.	0.591665	0.20063	N	0.100034	T	0.37865	0.1019	L	0.53729	1.69	0.09310	N	1	D;D	0.61697	0.99;0.99	B;B	0.42798	0.398;0.398	T	0.23511	-1.0186	10	0.20046	T	0.44	-10.3371	7.5934	0.28033	0.149:0.1369:0.7141:0.0	.	211;204	Q9UH36;B4DF37	SRR1L_HUMAN;.	R	211	ENSP00000215917:G211R	ENSP00000215917:G211R	G	+	1	0	SRRD	25216031	0.405000	0.25336	0.000000	0.03702	0.557000	0.35523	2.340000	0.43974	0.387000	0.25024	0.655000	0.94253	GGG		0.473	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		29	74	0	0	0	1	0	29	74				
ADCY5	111	broad.mit.edu	37	3	123166599	123166599	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:123166599G>A	ENST00000462833.1	-	1	2006	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	265					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGCTGGAGCGGGGGCCGCGC	0.672																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(793-795)cCg>cTg		adenylate cyclase 5							21.0	24.0	23.0					3																	123166599		2196	4292	6488	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166599G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.794C>T	3.37:g.123166599G>A	ENSP00000419361:p.Pro265Leu						p.P265L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	2006	-			265					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.794C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107486	0.20714	.	.	ENSG00000173175	ENST00000462833	T	0.76709	-1.04	4.91	2.79	0.32731	.	0.688433	0.13366	N	0.393306	T	0.61223	0.2330	L	0.34521	1.04	0.35221	D	0.776024	B	0.02656	0.0	B	0.04013	0.001	T	0.61212	-0.7108	10	0.26408	T	0.33	.	3.0615	0.06200	0.1986:0.295:0.5064:0.0	.	265	O95622	ADCY5_HUMAN	L	265	ENSP00000419361:P265L	ENSP00000419361:P265L	P	-	2	0	ADCY5	124649289	1.000000	0.71417	0.945000	0.38365	0.966000	0.64601	3.656000	0.54467	2.292000	0.77174	0.505000	0.49811	CCG		0.672	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		31	69	0	0	0	1	0	31	69				
NPAT	4863	broad.mit.edu	37	11	108044179	108044179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:108044179G>T	ENST00000278612.8	-	13	1637	c.1532C>A	c.(1531-1533)tCa>tAa	p.S511*	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	511					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAACAAATGAAGTTATTGG	0.368																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(1531-1533)tCa>tAa		nuclear protein, ataxia-telangiectasia locus							106.0	100.0	102.0					11																	108044179		1847	4081	5928	SO:0001587	stop_gained	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044179G>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1532C>A	11.37:g.108044179G>T	ENSP00000278612:p.Ser511*						p.S511*	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1637	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	511					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Nonsense_Mutation	SNP	ENST00000278612.8	37	c.1532C>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573516	0.96553	.	.	ENSG00000149308	ENST00000278612	.	.	.	6.08	6.08	0.98989	.	0.309505	0.30085	N	0.010444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2625	18.844	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000278612:S511X	S	-	2	0	NPAT	107549389	0.991000	0.36638	0.994000	0.49952	0.814000	0.46013	6.394000	0.73223	2.894000	0.99253	0.655000	0.94253	TCA		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		28	56	1	0	1.12875e-08	1	1.20693e-08	28	56				
SNCAIP	9627	broad.mit.edu	37	5	121786360	121786360	+	Silent	SNP	G	G	T	rs372461580		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:121786360G>T	ENST00000261368.8	+	10	2080	c.1818G>T	c.(1816-1818)cgG>cgT	p.R606R	CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.R208R|SNCAIP_ENST00000379533.2_Silent_p.R653R|SNCAIP_ENST00000379538.3_Silent_p.R240R|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.R546R|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.R653R|SNCAIP_ENST00000542191.1_Silent_p.R164R|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	606					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTCCAGCCGGGCTAGACCCA	0.463																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1957-1959)cgG>cgT		synuclein, alpha interacting protein							63.0	74.0	70.0					5																	121786360		2202	4299	6501	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786360G>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1818G>T	5.37:g.121786360G>T						CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.R606R|SNCAIP_ENST00000379536.2_Silent_p.R546R|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.R240R|SNCAIP_ENST00000542191.1_Silent_p.R164R|SNCAIP_ENST00000414317.2_Silent_p.R208R|SNCAIP_ENST00000379533.2_Silent_p.R653R|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR	p.R653R			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3387	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	606					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1959G>T	CCDS4131.1																																																																																				0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			22	40	1	0	7.45023e-12	1	8.44131e-12	22	40				
ECE2	9718	broad.mit.edu	37	3	184005706	184005706	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:184005706G>A	ENST00000402825.3	+	11	1699	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	ECE2_ENST00000404464.3_Missense_Mutation_p.A449T|ECE2_ENST00000359140.4_Missense_Mutation_p.A420T|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.A495T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	567	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTCGTGAAGGCCACGTTTGA	0.478																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1699-1701)Gcc>Acc		endothelin converting enzyme 2							100.0	87.0	91.0					3																	184005706		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184005706G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1699G>A	3.37:g.184005706G>A	ENSP00000384223:p.Ala567Thr					ECE2_ENST00000359140.4_Missense_Mutation_p.A420T|ECE2_ENST00000357474.5_Missense_Mutation_p.A495T|ECE2_ENST00000404464.3_Missense_Mutation_p.A449T|EIF2B5_ENST00000444495.1_Intron	p.A567T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1699	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		567			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1699G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367384	0.61513	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.95	4.95	0.65309	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061524	0.64402	D	0.000004	T	0.70833	0.3269	L	0.59436	1.845	0.47659	D	0.999486	B;P;P;B;P;P;P	0.43633	0.449;0.604;0.604;0.006;0.55;0.55;0.813	B;B;B;B;B;B;B	0.43478	0.219;0.42;0.42;0.012;0.296;0.296;0.421	T	0.67917	-0.5546	10	0.21540	T	0.41	-18.4178	11.9328	0.52855	0.0:0.0:0.8261:0.1739	.	169;420;438;449;495;420;567	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	T	567;420;449;495;441	ENSP00000384223:A567T;ENSP00000352052:A420T;ENSP00000385846:A449T;ENSP00000350066:A495T;ENSP00000398444:A441T	ENSP00000350066:A495T	A	+	1	0	ECE2	185488400	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.450000	0.73477	2.286000	0.76751	0.655000	0.94253	GCC		0.478	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		22	120	0	0	0	1	0	22	120				
ADRA1D	146	broad.mit.edu	37	20	4229232	4229232	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr20:4229232G>A	ENST00000379453.4	-	1	489	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	125					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGCAGGTGGCGGTTGCAGGCC	0.637																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(373-375)Cgc>Tgc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						51.0	55.0	54.0					20																	4229232		2203	4300	6503	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4229232G>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.373C>T	20.37:g.4229232G>A	ENSP00000368766:p.Arg125Cys						p.R125C	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			1	489	-			125					Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.373C>T	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827322	0.71143	.	.	ENSG00000171873	ENST00000379453	T	0.42131	0.98	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.058219	0.64402	D	0.000003	T	0.72252	0.3437	H	0.95884	3.735	0.48762	D	0.9997	D	0.89917	1.0	D	0.83275	0.996	T	0.79184	-0.1908	10	0.87932	D	0	.	9.7058	0.40214	0.0:0.0:0.793:0.2069	.	125	P25100	ADA1D_HUMAN	C	125	ENSP00000368766:R125C	ENSP00000368766:R125C	R	-	1	0	ADRA1D	4177232	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.807000	0.69157	2.279000	0.76181	0.558000	0.71614	CGC		0.637	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		14	32	0	0	0	1	0	14	32				
CDH9	1007	broad.mit.edu	37	5	26906883	26906883	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:26906883T>A	ENST00000231021.4	-	4	760	c.588A>T	c.(586-588)aaA>aaT	p.K196N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	196	Cadherin 2. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATAGACCACTTTGGCACTAT	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(586-588)aaA>aaT		cadherin 9, type 2 (T1-cadherin)							131.0	116.0	121.0					5																	26906883		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906883T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.588A>T	5.37:g.26906883T>A	ENSP00000231021:p.Lys196Asn						p.K196N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			4	760	-			196			Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.588A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880138	0.72294	.	.	ENSG00000113100	ENST00000231021	T	0.52983	0.64	5.49	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.102175	0.64402	D	0.000004	T	0.50137	0.1598	L	0.33485	1.01	0.42735	D	0.993729	D	0.55605	0.972	D	0.63192	0.912	T	0.44787	-0.9305	9	.	.	.	.	7.6614	0.28404	0.0:0.1645:0.0:0.8355	.	196	Q9ULB4	CADH9_HUMAN	N	196	ENSP00000231021:K196N	.	K	-	3	2	CDH9	26942640	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.091000	0.41691	0.926000	0.37118	0.533000	0.62120	AAA		0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		23	51	0	0	0	1	0	23	51				
NEGR1	257194	broad.mit.edu	37	1	72748110	72748110	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:72748110C>A	ENST00000357731.5	-	1	307	c.68G>T	c.(67-69)aGc>aTc	p.S23I	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	23					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627																																						ENST00000357731.4																			1	Substitution - Missense(1)	p.S23N(1)	kidney(1)	endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(67-69)aGc>aTc		neuronal growth regulator 1							83.0	69.0	74.0					1																	72748110		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748110C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.68G>T	1.37:g.72748110C>A	ENSP00000350364:p.Ser23Ile					NEGR1_ENST00000434200.1_Missense_Mutation_p.S21I	p.S23I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	307	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	23					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.68G>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102740	0.76983	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72835	0.6;-0.69	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	N	0.19112	0.55	0.42066	D	0.991185	P;P	0.47350	0.86;0.894	B;B	0.41813	0.165;0.367	T	0.49790	-0.8902	10	0.44086	T	0.13	-6.3905	13.6553	0.62336	0.0:0.8436:0.1564:0.0	.	21;23	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	I	23;21	ENSP00000350364:S23I;ENSP00000413294:S21I	ENSP00000350364:S23I	S	-	2	0	NEGR1	72520698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.916000	0.56416	1.192000	0.43071	0.561000	0.74099	AGC		0.627	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		4	36	1	0	0.00024832	1	0.000256632	4	36				
WDR72	256764	broad.mit.edu	37	15	54025296	54025296	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:54025296G>A	ENST00000396328.1	-	2	290	c.51C>T	c.(49-51)ccC>ccT	p.P17P	WDR72_ENST00000557913.1_Silent_p.P17P|WDR72_ENST00000360509.5_Silent_p.P17P|WDR72_ENST00000559418.1_Silent_p.P17P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	17										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGATGCTGTGGGGAGGGGCCT	0.512																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(49-51)ccC>ccT		WD repeat domain 72							106.0	92.0	97.0					15																	54025296		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54025296G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.51C>T	15.37:g.54025296G>A						WDR72_ENST00000559418.1_Silent_p.P17P|WDR72_ENST00000557913.1_Silent_p.P17P|WDR72_ENST00000360509.5_Silent_p.P17P	p.P17P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	2	290	-			17					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.51C>T	CCDS10151.1																																																																																				0.512	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		20	91	0	0	0	1	0	20	91				
MUC2	4583	broad.mit.edu	37	11	1075769	1075769	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:1075769C>T	ENST00000441003.2	+	2	222	c.195C>T	c.(193-195)tcC>tcT	p.S65S	MUC2_ENST00000359061.5_Silent_p.S65S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	65	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTTCGCCTCCGACTGCCGAG	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(193-195)tcC>tcT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						21.0	25.0	24.0					11																	1075769		2025	4173	6198	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075769C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.195C>T	11.37:g.1075769C>T						MUC2_ENST00000359061.5_Silent_p.S65S	p.S65S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	65			VWFD 1.		Q14878	Silent	SNP	ENST00000441003.2	37	c.195C>T																																																																																					0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		13	17	0	0	0	1	0	13	17				
OR10V1	390201	broad.mit.edu	37	11	59480656	59480656	+	Silent	SNP	G	G	A	rs146924217		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:59480656G>A	ENST00000307552.2	-	1	681	c.663C>T	c.(661-663)ttC>ttT	p.F221F	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CTACCACGATGAAGACATAGG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21568	0.0		0.0	False		,,,				2504	0.0					ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(661-663)ttC>ttT		olfactory receptor, family 10, subfamily V, member 1							94.0	82.0	86.0					11																	59480656		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480656G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.663C>T	11.37:g.59480656G>A							p.F221F	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	681	-			221					Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.663C>T	CCDS31565.1																																																																																				0.512	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		23	42	0	0	0	1	0	23	42				
EPHA5	2044	broad.mit.edu	37	4	66286159	66286159	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:66286159C>G	ENST00000273854.3	-	6	2127	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N	EPHA5_ENST00000432638.2_Splice_Site_p.K345N|EPHA5_ENST00000354839.4_Splice_Site_p.K509N|EPHA5_ENST00000511294.1_Splice_Site_p.K509N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTAGTCTTACCTTTTCAAAAT	0.318										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.e6+1		EPH receptor A5							141.0	135.0	137.0					4																	66286159		2203	4300	6503	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66286159C>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1527+1G>C	4.37:g.66286159C>G		TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Splice_Site_p.K509_splice|EPHA5_ENST00000511294.1_Splice_Site_p.K509_splice|EPHA5_ENST00000432638.2_Splice_Site_p.K345_splice	p.K509_splice	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			6	2127	-			509			Fibronectin type-III 2.		Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37	c.1527_splice	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157900	0.78114	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	T	0.75867	0.3908	M	0.71581	2.175	0.58432	D	0.999996	D;P;D;D	0.89917	1.0;0.828;0.999;1.0	D;P;D;D	0.91635	0.999;0.737;0.999;0.999	T	0.76099	-0.3083	9	.	.	.	.	18.6738	0.91521	0.0:1.0:0.0:0.0	.	509;509;509;509	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	509;345;509;509	ENSP00000273854:K509N;ENSP00000389208:K345N;ENSP00000346899:K509N;ENSP00000427638:K509N	.	K	-	3	2	EPHA5	65968754	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.784000	0.85713	2.417000	0.82017	0.467000	0.42956	AAG		0.318	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Missense_Mutation	34	42	0	0	0	1	0	34	42				
PTGFRN	5738	broad.mit.edu	37	1	117503896	117503896	+	Silent	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:117503896C>G	ENST00000393203.2	+	5	1392	c.1245C>G	c.(1243-1245)tcC>tcG	p.S415S	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	415	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGAATGCTTCCAAGGTCCCCG	0.512																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1243-1245)tcC>tcG		prostaglandin F2 receptor inhibitor							82.0	74.0	77.0					1																	117503896		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117503896C>G	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1245C>G	1.37:g.117503896C>G							p.S415S	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	5	1392	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	415			Ig-like C2-type 4.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.1245C>G	CCDS890.1																																																																																				0.512	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		20	58	0	0	0	1	0	20	58				
FRAS1	80144	broad.mit.edu	37	4	79461950	79461950	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:79461950C>T	ENST00000264895.6	+	74	12151	c.11711C>T	c.(11710-11712)gCg>gTg	p.A3904V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3900					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGACTGGGGCGTCCATTGGC	0.493																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11710-11712)gCg>gTg		Fraser syndrome 1							52.0	59.0	57.0					4																	79461950		1992	4176	6168	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79461950C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11711C>T	4.37:g.79461950C>T	ENSP00000264895:p.Ala3904Val						p.A3904V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12151	+			3899					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11711C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367978	0.61513	.	.	ENSG00000138759	ENST00000264895	T	0.52295	0.67	6.17	6.17	0.99709	.	0.186341	0.45606	D	0.000358	T	0.62134	0.2403	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.51687	-0.8674	10	0.31617	T	0.26	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	3904	E9PHH6	.	V	3904	ENSP00000264895:A3904V	ENSP00000264895:A3904V	A	+	2	0	FRAS1	79680974	1.000000	0.71417	0.953000	0.39169	0.004000	0.04260	5.687000	0.68219	2.941000	0.99782	0.655000	0.94253	GCG		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	40	0	0	0	1	0	7	40				
GTDC1	79712	broad.mit.edu	37	2	144966262	144966262	+	Silent	SNP	G	G	A	rs146914833		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:144966262G>A	ENST00000392869.2	-	3	239	c.87C>T	c.(85-87)gtC>gtT	p.V29V	GTDC1_ENST00000409298.1_Silent_p.V29V|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000542155.1_Silent_p.V29V|GTDC1_ENST00000241391.5_Silent_p.V29V|GTDC1_ENST00000344850.4_Silent_p.V29V|GTDC1_ENST00000467352.1_5'Flank|GTDC1_ENST00000409214.1_Silent_p.V29V|GTDC1_ENST00000392867.3_Silent_p.V29V	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	29					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGTATAAACGACACAGTCTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		13654	0.001		0.0	False		,,,				2504	0.0					ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(85-87)gtC>gtT		glycosyltransferase-like domain containing 1		G	,,	3,4403	4.2+/-10.8	0,3,2200	89.0	88.0	89.0		87,87,87	-2.4	0.9	2	dbSNP_134	89	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GTDC1	NM_001006636.3,NM_001164629.2,NM_024659.4	,,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,,	29/459,29/459,29/374	144966262	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144966262G>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.87C>T	2.37:g.144966262G>A						GTDC1_ENST00000392869.1_Silent_p.V29V|GTDC1_ENST00000542155.1_Silent_p.V29V|GTDC1_ENST00000392867.3_Silent_p.V29V|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000241391.5_Silent_p.V29V|GTDC1_ENST00000344850.4_Silent_p.V29V|GTDC1_ENST00000409298.1_Silent_p.V29V	p.V29V	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	4	365	-			29					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	c.87C>T	CCDS33300.1																																																																																				0.438	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		21	33	0	0	0	1	0	21	33				
GRM7	2917	broad.mit.edu	37	3	7721970	7721970	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:7721970G>A	ENST00000357716.4	+	9	2960	c.2686G>A	c.(2686-2688)Gta>Ata	p.V896I	GRM7_ENST00000403881.1_Missense_Mutation_p.V896I|GRM7_ENST00000486284.1_Missense_Mutation_p.V896I|GRM7_ENST00000389336.4_Missense_Mutation_p.V896I|GRM7_ENST00000402647.2_Missense_Mutation_p.V896I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	896					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.V896I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGTGAAAACGTAGACCCAAA	0.512																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.V896I(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2686-2688)Gta>Ata		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						100.0	69.0	79.0					3																	7721970		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721970G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2686G>A	3.37:g.7721970G>A	ENSP00000350348:p.Val896Ile					GRM7_ENST00000403881.1_Missense_Mutation_p.V896I|GRM7_ENST00000357716.4_Missense_Mutation_p.V896I|GRM7_ENST00000389336.4_Missense_Mutation_p.V896I|GRM7_ENST00000402647.2_Missense_Mutation_p.V896I	p.V896I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			9	2960	+			896					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2686G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966329	0.53507	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.89196	-2.44;-2.48;-2.48;-2.48;-2.48	5.07	5.07	0.68467	.	0.330029	0.32819	N	0.005617	T	0.82111	0.4966	L	0.36672	1.1	0.32604	N	0.525576	B;P;B;P	0.40681	0.44;0.66;0.313;0.727	B;B;B;B	0.32393	0.026;0.055;0.011;0.145	D	0.84142	0.0418	10	0.23891	T	0.37	.	17.3817	0.87406	0.0:0.0:1.0:0.0	.	896;651;896;896	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	I	896	ENSP00000350348:V896I;ENSP00000417536:V896I;ENSP00000373987:V896I;ENSP00000385664:V896I;ENSP00000384585:V896I	ENSP00000350348:V896I	V	+	1	0	GRM7	7696970	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.919000	0.56439	2.509000	0.84616	0.591000	0.81541	GTA		0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		24	11	0	0	0	1	0	24	11				
SLC17A5	26503	broad.mit.edu	37	6	74304856	74304856	+	Missense_Mutation	SNP	C	C	T	rs141341430	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:74304856C>T	ENST00000355773.5	-	11	1700	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	478					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCACCTTTGGCGAATAGTGTA	0.363																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1432-1434)Gcc>Acc		solute carrier family 17 (acidic sugar transporter), member 5		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	153.0	149.0	150.0		1432	2.1	0.2	6	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC17A5	NM_012434.4	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	478/496	74304856	3,13003	2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74304856C>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1432G>A	6.37:g.74304856C>T	ENSP00000348019:p.Ala478Thr						p.A478T	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			11	1700	-			478					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1432G>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717751	0.30413	4.54E-4	1.16E-4	ENSG00000119899	ENST00000355773	T	0.59364	0.27	5.3	2.09	0.27110	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268709	0.36268	N	0.002687	T	0.43831	0.1265	M	0.87827	2.91	0.20489	N	0.999898	P	0.48016	0.904	B	0.35413	0.202	T	0.50651	-0.8803	10	0.72032	D	0.01	.	15.2397	0.73458	0.3746:0.6254:0.0:0.0	.	478	Q9NRA2	S17A5_HUMAN	T	478	ENSP00000348019:A478T	ENSP00000348019:A478T	A	-	1	0	SLC17A5	74361577	0.995000	0.38212	0.172000	0.22920	0.314000	0.28054	2.912000	0.48782	0.584000	0.29591	0.542000	0.68232	GCC		0.363	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			29	79	0	0	0	1	0	29	79				
DUOXA1	90527	broad.mit.edu	37	15	45411394	45411394	+	Silent	SNP	G	G	T	rs150452217		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:45411394G>T	ENST00000560572.1	-	6	947	c.942C>A	c.(940-942)ccC>ccA	p.P314P	DUOXA1_ENST00000267803.4_Silent_p.P314P|DUOXA1_ENST00000559014.1_Silent_p.P314P|DUOXA1_ENST00000558996.1_Silent_p.P269P|DUOXA1_ENST00000558422.1_Silent_p.P269P|DUOXA1_ENST00000430224.2_Silent_p.P269P	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	314					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CCTGGGACTTGGGACTGTCAG	0.552																																						ENST00000558996.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(805-807)ccC>ccA		dual oxidase maturation factor 1							100.0	100.0	100.0					15																	45411394		2198	4298	6496	SO:0001819	synonymous_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45411394G>T	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.942C>A	15.37:g.45411394G>T						DUOXA1_ENST00000559014.1_Silent_p.P314P|DUOXA1_ENST00000560572.1_Silent_p.P314P|DUOXA1_ENST00000558422.1_Silent_p.P269P|DUOXA1_ENST00000267803.4_Silent_p.P314P|DUOXA1_ENST00000430224.2_Silent_p.P269P	p.P269P	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	6	861	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	314					Q8N6K9|Q96MI4	Silent	SNP	ENST00000560572.1	37	c.807C>A																																																																																					0.552	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		25	86	1	0	4.72057e-08	1	4.98283e-08	25	86				
PEX11A	8800	broad.mit.edu	37	15	90229714	90229714	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:90229714C>T	ENST00000300056.3	-	2	269	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PEX11A_ENST00000561257.1_Silent_p.K40K|PEX11A_ENST00000561224.1_Silent_p.K40K|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	40					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATTACCACCTTCTCTTTGC	0.408																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(118-120)aaG>aaA		peroxisomal biogenesis factor 11 alpha							180.0	165.0	170.0					15																	90229714		2200	4299	6499	SO:0001819	synonymous_variant	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90229714C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.120G>A	15.37:g.90229714C>T						PEX11A_ENST00000561224.1_Silent_p.K40K|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Silent_p.K40K	p.K40K	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	269	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		40					B4DV88	Silent	SNP	ENST00000300056.3	37	c.120G>A	CCDS10354.1																																																																																				0.408	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		15	132	0	0	0	1	0	15	132				
SLC22A1	6580	broad.mit.edu	37	6	160557620	160557620	+	Silent	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:160557620A>T	ENST00000366963.4	+	6	1146	c.999A>T	c.(997-999)tcA>tcT	p.S333S	SLC22A1_ENST00000324965.4_Silent_p.S333S|SLC22A1_ENST00000457470.2_Silent_p.S333S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	333					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TGAGCCCTTCATTTGCAGACC	0.582																																						ENST00000366963.4																		SLC22A1/CUTA(2)	0				breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21						c.(997-999)tcA>tcT		solute carrier family 22 (organic cation transporter), member 1							187.0	148.0	161.0					6																	160557620		2203	4300	6503	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160557620A>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.999A>T	6.37:g.160557620A>T						SLC22A1_ENST00000457470.2_Silent_p.S333S|SLC22A1_ENST00000324965.4_Silent_p.S333S	p.S333S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	1146	+		Breast(66;0.000776)|Ovarian(120;0.00556)	333					A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.999A>T	CCDS5274.1																																																																																				0.582	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			58	73	0	0	0	1	0	58	73				
DMAP1	55929	broad.mit.edu	37	1	44680075	44680075	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:44680075G>A	ENST00000372289.2	+	2	422	c.159G>A	c.(157-159)atG>atA	p.M53I	DMAP1_ENST00000361745.6_Missense_Mutation_p.M53I|DMAP1_ENST00000315913.5_Missense_Mutation_p.M53I	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	53					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCGAGGGCATGCACCGGGAAG	0.512																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(157-159)atG>atA		DNA methyltransferase 1 associated protein 1							143.0	149.0	147.0					1																	44680075		2203	4300	6503	SO:0001583	missense	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680075G>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.159G>A	1.37:g.44680075G>A	ENSP00000361363:p.Met53Ile					DMAP1_ENST00000361745.6_Missense_Mutation_p.M53I|DMAP1_ENST00000315913.5_Missense_Mutation_p.M53I	p.M53I	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			2	422	+	Acute lymphoblastic leukemia(166;0.155)		53					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	c.159G>A	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338314	0.95783	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.48642	1.525	0.80722	D	1	D;D;D;P;D;D	0.59767	0.985;0.968;0.982;0.858;0.986;0.97	P;P;P;P;D;P	0.71656	0.791;0.853;0.853;0.596;0.974;0.791	T	0.03795	-1.1003	10	0.34782	T	0.22	-10.8692	19.0506	0.93041	0.0:0.0:1.0:0.0	.	53;53;53;53;53;53	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	I	53;53;53;53;53;53;53;53;24	ENSP00000354697:M53I;ENSP00000409200:M53I;ENSP00000401099:M53I;ENSP00000400269:M53I;ENSP00000402494:M53I;ENSP00000312697:M53I;ENSP00000361363:M53I	ENSP00000312697:M53I	M	+	3	0	DMAP1	44452662	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.209000	0.95087	2.498000	0.84270	0.491000	0.48974	ATG		0.512	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		5	146	0	0	0	1	0	5	146				
ZNF676	163223	broad.mit.edu	37	19	22363785	22363785	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:22363785A>C	ENST00000397121.2	-	3	1051	c.734T>G	c.(733-735)aTa>aGa	p.I245R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	245					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTATCTTATGTTT	0.363																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(733-735)aTa>aGa		zinc finger protein 676							79.0	87.0	84.0					19																	22363785		2175	4289	6464	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363785A>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.734T>G	19.37:g.22363785A>C	ENSP00000380310:p.Ile245Arg						p.I245R	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1051	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	245					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.734T>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.808723	0.00074	.	.	ENSG00000196109	ENST00000397121	T	0.12465	2.68	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.00113	-2.09	0.33581	D	0.599847	B	0.10296	0.003	B	0.10450	0.005	T	0.40850	-0.9541	9	0.02654	T	1	.	4.138	0.10179	0.2213:0.6064:0.0:0.1723	.	245	Q8N7Q3	ZN676_HUMAN	R	245	ENSP00000380310:I245R	ENSP00000380310:I245R	I	-	2	0	ZNF676	22155625	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.664000	0.05292	-2.917000	0.00306	-2.992000	0.00078	ATA		0.363	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	234	0	0	0	1	0	8	234				
RASAL2	9462	broad.mit.edu	37	1	178423653	178423653	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:178423653G>A	ENST00000462775.1	+	10	1762	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	RASAL2_ENST00000367649.3_Missense_Mutation_p.R694H|RASAL2_ENST00000448150.3_Missense_Mutation_p.R676H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	546					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAATGAAGCGCTTTCTTTTG	0.408																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2026-2028)cGc>cAc		RAS protein activator like 2							167.0	158.0	161.0					1																	178423653		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178423653G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1637G>A	1.37:g.178423653G>A	ENSP00000420558:p.Arg546His					RASAL2_ENST00000367649.3_Missense_Mutation_p.R694H|RASAL2_ENST00000462775.1_Missense_Mutation_p.R546H	p.R676H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			12	2845	+			546					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2027G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864755	0.71949	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.82344	-1.6;2.26;-1.6	5.87	4.91	0.64330	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.118422	0.64402	D	0.000017	D	0.86087	0.5849	L	0.43757	1.38	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.938	P;P;P	0.58970	0.54;0.849;0.591	D	0.87163	0.2216	10	0.72032	D	0.01	.	16.5015	0.84257	0.0:0.1307:0.8693:0.0	.	676;546;694	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	H	676;694;546	ENSP00000407768:R676H;ENSP00000356621:R694H;ENSP00000420558:R546H	ENSP00000356621:R694H	R	+	2	0	RASAL2	176690276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.624000	0.74243	2.785000	0.95823	0.591000	0.81541	CGC		0.408	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		29	132	0	0	0	1	0	29	132				
OR6X1	390260	broad.mit.edu	37	11	123625035	123625035	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:123625035C>G	ENST00000327930.2	-	1	218	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTAAGAAAGACAAGTTACAAA	0.463																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(190-192)ttG>ttC		olfactory receptor, family 6, subfamily X, member 1							113.0	109.0	110.0					11																	123625035		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625035C>G	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.192G>C	11.37:g.123625035C>G	ENSP00000333724:p.Leu64Phe						p.L64F	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	218	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	64					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.192G>C	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	C	6.324	0.427898	0.11987	.	.	ENSG00000221931	ENST00000327930	T	0.00483	7.09	4.19	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	L	0.33624	1.015	0.34084	D	0.659878	D	0.89917	1.0	D	0.91635	0.999	T	0.56571	-0.7957	9	0.02654	T	1	-8.7375	1.1262	0.01736	0.14:0.3188:0.2762:0.2651	.	64	Q8NH79	OR6X1_HUMAN	F	64	ENSP00000333724:L64F	ENSP00000333724:L64F	L	-	3	2	OR6X1	123130245	0.000000	0.05858	0.961000	0.40146	0.984000	0.73092	-2.021000	0.01440	-0.166000	0.10890	0.650000	0.86243	TTG		0.463	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		18	42	0	0	0	1	0	18	42				
CDC23	8697	broad.mit.edu	37	5	137548924	137548924	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:137548924G>T	ENST00000394886.2	-	1	108	c.78C>A	c.(76-78)ttC>ttA	p.F26L	CDC23_ENST00000505120.1_Missense_Mutation_p.F26L|CDC23_ENST00000394884.3_Missense_Mutation_p.F26L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAATCTGAGAAATCGCTGT	0.567																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(76-78)ttC>ttA		cell division cycle 23							48.0	56.0	53.0					5																	137548924		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548924G>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.78C>A	5.37:g.137548924G>T	ENSP00000378350:p.Phe26Leu					CDC23_ENST00000505120.1_Missense_Mutation_p.F26L|CDC23_ENST00000394884.3_Missense_Mutation_p.F26L	p.F26L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	108	-			26					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.78C>A	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747838	0.89663	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.52057	1.0;1.55;0.68	5.93	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	N	0.14661	0.345	0.58432	D	0.999992	D;B	0.71674	0.998;0.09	D;B	0.80764	0.994;0.02	T	0.29150	-1.0021	10	0.18276	T	0.48	-15.4587	9.8503	0.41053	0.2123:0.0:0.7877:0.0	.	26;26	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	L	26	ENSP00000378350:F26L;ENSP00000378348:F26L;ENSP00000423704:F26L	ENSP00000378348:F26L	F	-	3	2	CDC23	137576823	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.762000	0.38451	0.831000	0.34780	0.655000	0.94253	TTC		0.567	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			24	52	1	0	1.10923e-09	1	1.20167e-09	24	52				
TTN	7273	broad.mit.edu	37	2	179417916	179417916	+	Missense_Mutation	SNP	C	C	G	rs397517744		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:179417916C>G	ENST00000591111.1	-	285	85012	c.84788G>C	c.(84787-84789)cGc>cCc	p.R28263P	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20964P|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21031P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27336P|TTN_ENST00000460472.2_Missense_Mutation_p.R20839P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29904P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28263	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATCATTGCGAGTAACTTG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89710-89712)cGc>cCc		titin							164.0	161.0	162.0					2																	179417916		1932	4128	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417916C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84788G>C	2.37:g.179417916C>G	ENSP00000465570:p.Arg28263Pro					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28263P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20964P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20839P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27336P|TTN_ENST00000342175.6_Missense_Mutation_p.R21031P|TTN-AS1_ENST00000585451.1_RNA	p.R29904P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	89935	-			28263			Fibronectin type-III 118.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89711G>C		.	.	.	.	.	.	.	.	.	.	C	16.75	3.208623	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66376	0.2783	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68704	-0.5338	9	0.87932	D	0	.	19.5232	0.95194	0.0:1.0:0.0:0.0	.	20839;20964;21031;28263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	27336;20839;21031;20964;20836	ENSP00000343764:R27336P;ENSP00000434586:R20839P;ENSP00000340554:R21031P;ENSP00000352154:R20964P	ENSP00000340554:R21031P	R	-	2	0	TTN	179126162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	CGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	71	0	0	0	1	0	37	71				
COL22A1	169044	broad.mit.edu	37	8	139768066	139768066	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr8:139768066C>T	ENST00000303045.6	-	19	2355	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	COL22A1_ENST00000435777.1_Missense_Mutation_p.V637M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	637	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGGTCCCACGTCACCCTGC	0.572										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1909-1911)Gtg>Atg		collagen, type XXII, alpha 1							157.0	121.0	134.0					8																	139768066		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139768066C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1909G>A	8.37:g.139768066C>T	ENSP00000303153:p.Val637Met	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.V637M	p.V637M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		19	2355	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		637			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1909G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372018	0.42003	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96587	-4.06;-3.25	4.83	3.96	0.45880	.	0.391726	0.18100	U	0.151723	D	0.90013	0.6882	N	0.21240	0.645	0.80722	D	1	B	0.34181	0.44	B	0.20955	0.032	D	0.87600	0.2496	10	0.41790	T	0.15	.	8.8731	0.35327	0.0:0.8985:0.0:0.1015	.	637	Q8NFW1	COMA1_HUMAN	M	637;637;350	ENSP00000303153:V637M;ENSP00000387655:V637M	ENSP00000303153:V637M	V	-	1	0	COL22A1	139837248	0.847000	0.29606	0.776000	0.31678	0.402000	0.30811	1.194000	0.32174	1.258000	0.44101	0.491000	0.48974	GTG		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		13	105	0	0	0	1	0	13	105				
KCNN2	3781	broad.mit.edu	37	5	113831862	113831862	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:113831862T>G	ENST00000512097.3	+	9	2741	c.1723T>G	c.(1723-1725)Tca>Gca	p.S575A	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.S575A|KCNN2_ENST00000503706.1_Missense_Mutation_p.S227A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	575					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACCACCAACTTCATCAGAGAG	0.468																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1723-1725)Tca>Gca		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							69.0	69.0	69.0					5																	113831862		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831862T>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1723T>G	5.37:g.113831862T>G	ENSP00000427120:p.Ser575Ala					KCNN2_ENST00000264773.3_Missense_Mutation_p.S575A|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.S227A	p.S575A			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	9	2741	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	575					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1723T>G	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206420	0.58343	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98633	-5.04;-3.48	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	L	0.58810	1.83	0.80722	D	1	P	0.44690	0.841	P	0.54238	0.746	D	0.98570	1.0645	10	0.15952	T	0.53	.	14.9059	0.70718	0.0:0.0:0.0:1.0	.	575	Q9H2S1	KCNN2_HUMAN	A	575;227	ENSP00000264773:S575A;ENSP00000421439:S227A	ENSP00000264773:S575A	S	+	1	0	KCNN2	113859761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.009000	0.58944	0.523000	0.50628	TCA		0.468	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	84	0	0	0	1	0	4	84				
SEMA5B	54437	broad.mit.edu	37	3	122642502	122642502	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:122642502C>A	ENST00000357599.3	-	10	1620	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.A466S|SEMA5B_ENST00000195173.4_Missense_Mutation_p.A412S	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	412	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGAGCCAGGCAGCCCTGGGG	0.562																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1234-1236)Gcc>Tcc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							92.0	93.0	92.0					3																	122642502		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642502C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1234G>T	3.37:g.122642502C>A	ENSP00000350215:p.Ala412Ser					SEMA5B_ENST00000357599.3_Missense_Mutation_p.A412S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A466S	p.A412S			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1537	-			412			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1234G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568750	0.65765	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.22	3.44	0.39384	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.168067	0.53938	D	0.000056	T	0.13670	0.0331	L	0.50919	1.6	0.43913	D	0.996558	B;P;P	0.36438	0.254;0.553;0.553	B;B;B	0.40782	0.23;0.34;0.34	T	0.02713	-1.1120	10	0.59425	D	0.04	.	11.0275	0.47753	0.0:0.8503:0.0:0.1497	.	354;412;412	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	S	412;412;354;466;412	ENSP00000350215:A412S;ENSP00000195173:A412S;ENSP00000389588:A466S;ENSP00000377208:A412S	ENSP00000195173:A412S	A	-	1	0	SEMA5B	124125192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.887000	0.48586	0.907000	0.36646	-0.140000	0.14226	GCC		0.562	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		16	119	1	0	6.72482e-11	1	7.41532e-11	16	119				
ANKRD53	79998	broad.mit.edu	37	2	71206427	71206427	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:71206427G>A	ENST00000360589.3	+	2	405	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.R90Q|ANKRD53_ENST00000272421.6_Missense_Mutation_p.R124Q|ANKRD53_ENST00000441349.1_Missense_Mutation_p.R90Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	124										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GAATGGCTGCGATTCTGTCTG	0.607																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(370-372)cGa>cAa		ankyrin repeat domain 53							60.0	60.0	60.0					2																	71206427		2203	4300	6503	SO:0001583	missense	79998							g.chr2:71206427G>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.371G>A	2.37:g.71206427G>A	ENSP00000353796:p.Arg124Gln					ANKRD53_ENST00000360589.3_Missense_Mutation_p.R124Q|ANKRD53_ENST00000441349.1_Missense_Mutation_p.R90Q|ANKRD53_ENST00000457410.1_Missense_Mutation_p.R90Q|AC007040.11_ENST00000606025.1_Intron	p.R124Q	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	637	+			124					Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.371G>A	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284996	0.59867	.	.	ENSG00000144031	ENST00000272421;ENST00000441349;ENST00000457410;ENST00000360589	T;T;T;T	0.66815	-0.23;-0.17;-0.1;-0.2	3.04	2.16	0.27623	Ankyrin repeat-containing domain (2);	0.263148	0.20704	N	0.087211	T	0.69557	0.3124	L	0.47190	1.495	0.29662	N	0.843142	D;D;D	0.89917	0.993;0.99;1.0	P;B;D	0.69824	0.867;0.278;0.966	T	0.61811	-0.6986	10	0.38643	T	0.18	-19.9909	5.2722	0.15630	0.2643:0.0:0.7357:0.0	.	90;124;124	C9JQK2;Q8N9V6;Q8N9V6-2	.;ANR53_HUMAN;.	Q	124;90;90;124	ENSP00000272421:R124Q;ENSP00000388883:R90Q;ENSP00000407004:R90Q;ENSP00000353796:R124Q	ENSP00000272421:R124Q	R	+	2	0	ANKRD53	71059935	0.975000	0.34042	0.997000	0.53966	0.489000	0.33432	0.955000	0.29188	0.853000	0.35312	0.561000	0.74099	CGA		0.607	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		37	104	0	0	0	1	0	37	104				
PCDHA1	56147	broad.mit.edu	37	5	140167177	140167177	+	Silent	SNP	G	G	A	rs144742806	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140167177G>A	ENST00000504120.2	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA1_ENST00000394633.3_Silent_p.S434S|PCDHA1_ENST00000378133.3_Silent_p.S434S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.627													.|||	2	0.000399361	0.0	0.0	5008	,	,		17433	0.001		0.0	False		,,,				2504	0.001					ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1300-1302)tcG>tcA									80.0	86.0	84.0					5																	140167177		2203	4298	6501	SO:0001819	synonymous_variant	56147							g.chr5:140167177G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1302G>A	5.37:g.140167177G>A						PCDHA1_ENST00000378133.3_Silent_p.S434S|PCDHA1_ENST00000394633.3_Silent_p.S434S	p.S434S	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1302	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1302G>A	CCDS54913.1																																																																																				0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		57	91	0	0	0	1	0	57	91				
ADAMTS2	9509	broad.mit.edu	37	5	178552036	178552036	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:178552036T>A	ENST00000251582.7	-	19	2997	c.2896A>T	c.(2896-2898)Agc>Tgc	p.S966C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	966	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCCGGCGGCTCTCGGGCCGG	0.687																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2896-2898)Agc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							45.0	51.0	49.0					5																	178552036		2202	4298	6500	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552036T>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2896A>T	5.37:g.178552036T>A	ENSP00000251582:p.Ser966Cys						p.S966C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2997	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	966			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2896A>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388189	0.82902	.	.	ENSG00000087116	ENST00000251582	T	0.61742	0.08	5.31	4.35	0.52113	.	0.204163	0.34025	N	0.004329	T	0.72779	0.3503	M	0.91561	3.22	0.80722	D	1	D	0.57571	0.98	P	0.56823	0.807	T	0.74708	-0.3574	10	0.62326	D	0.03	.	5.7695	0.18245	0.0:0.7986:0.0:0.2014	.	966	O95450	ATS2_HUMAN	C	966	ENSP00000251582:S966C	ENSP00000251582:S966C	S	-	1	0	ADAMTS2	178484642	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.476000	0.22180	1.043000	0.40175	0.533000	0.62120	AGC		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		41	101	0	0	0	1	0	41	101				
HSD17B1	3292	broad.mit.edu	37	17	40705615	40705615	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:40705615G>T	ENST00000585807.1	+	3	4144	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	HSD17B1_ENST00000225929.5_Missense_Mutation_p.G142W|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	142					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GTTGGTGACCGGGAGCGTGGG	0.627																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(424-426)Ggg>Tgg		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						60.0	59.0	59.0					17																	40705615		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40705615G>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.424G>T	17.37:g.40705615G>T	ENSP00000466799:p.Gly142Trp					HSD17B1_ENST00000225929.5_Missense_Mutation_p.G142W|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	p.G142W	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	4144	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	142					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.424G>T	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647426	0.47258	.	.	ENSG00000108786	ENST00000225929;ENST00000225928	D	0.87966	-2.32	4.27	3.28	0.37604	NAD(P)-binding domain (1);	0.108331	0.64402	D	0.000006	D	0.92344	0.7571	M	0.87038	2.855	0.40871	D	0.983915	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91161	0.4961	10	0.87932	D	0	.	5.027	0.14391	0.1067:0.0:0.6834:0.2098	.	173;142;142	B3RFR9;B4DTD0;P14061	.;.;DHB1_HUMAN	W	142	ENSP00000225929:G142W	ENSP00000225928:G142W	G	+	1	0	HSD17B1	37959141	1.000000	0.71417	0.134000	0.22075	0.142000	0.21351	5.125000	0.64715	0.985000	0.38656	0.555000	0.69702	GGG		0.627	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		5	105	1	0	0.014758	1	0.0148785	5	105				
KIAA1551	55196	broad.mit.edu	37	12	32135923	32135923	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:32135923C>T	ENST00000312561.4	+	4	2448	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	678																	CCTGTCTTTCCCTGTGGAAAA	0.428																																						ENST00000312561.4																			0											c.(2032-2034)tcC>tcT		KIAA1551							65.0	61.0	62.0					12																	32135923		2203	4299	6502	SO:0001819	synonymous_variant	55196							g.chr12:32135923C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2034C>T	12.37:g.32135923C>T						KIAA1551_ENST00000535596.1_Intron	p.S678S	NM_018169.3	NP_060639.3					4	2448	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.2034C>T	CCDS8725.2																																																																																				0.428	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		15	46	0	0	0	1	0	15	46				
MORC1	27136	broad.mit.edu	37	3	108813786	108813786	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:108813786G>T	ENST00000483760.1	-	7	596	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	MORC1_ENST00000232603.5_Missense_Mutation_p.Q185K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAACTGCTGCATCAATTCT	0.338																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(553-555)Cag>Aag		MORC family CW-type zinc finger 1							46.0	47.0	47.0					3																	108813786		2203	4296	6499	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108813786G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.553C>A	3.37:g.108813786G>T	ENSP00000417282:p.Gln185Lys					MORC1_ENST00000483760.1_Missense_Mutation_p.Q185K	p.Q185K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			7	635	-			185						Missense_Mutation	SNP	ENST00000483760.1	37	c.553C>A		.	.	.	.	.	.	.	.	.	.	G	8.393	0.840288	0.16891	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.41;3.41	5.35	2.33	0.28932	ATPase-like, ATP-binding domain (1);	0.644993	0.13723	N	0.367271	T	0.04815	0.0130	L	0.31926	0.97	0.28727	N	0.90269	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.003	T	0.43766	-0.9371	10	0.12430	T	0.62	-2.9708	7.8391	0.29387	0.0:0.2761:0.3626:0.3614	.	185;185	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	185	ENSP00000232603:Q185K;ENSP00000417282:Q185K	ENSP00000232603:Q185K	Q	-	1	0	MORC1	110296476	0.953000	0.32496	0.996000	0.52242	0.972000	0.66771	-0.066000	0.11598	0.245000	0.21373	0.650000	0.86243	CAG		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			26	255	1	0	4.22769e-11	1	4.72507e-11	26	255				
SLC22A2	6582	broad.mit.edu	37	6	160645749	160645749	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:160645749T>G	ENST00000366953.3	-	10	1847	c.1589A>C	c.(1588-1590)gAa>gCa	p.E530A	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	530					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TTGCATATTTTCGGCTTCCTC	0.413																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1588-1590)gAa>gCa		solute carrier family 22 (organic cation transporter), member 2							129.0	131.0	131.0					6																	160645749		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160645749T>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1589A>C	6.37:g.160645749T>G	ENSP00000355920:p.Glu530Ala					SLC22A2_ENST00000491092.1_5'UTR	p.E530A	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	10	1847	-		Breast(66;0.000776)|Ovarian(120;0.0303)	530					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1589A>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229324	0.39399	.	.	ENSG00000112499	ENST00000366953	T	0.76448	-1.02	4.66	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.81341	2.54	0.80722	D	1	P	0.51449	0.945	P	0.55871	0.786	D	0.84747	0.0754	10	0.87932	D	0	.	11.6304	0.51171	0.0:0.0:0.0:1.0	.	530	O15244	S22A2_HUMAN	A	530	ENSP00000355920:E530A	ENSP00000355920:E530A	E	-	2	0	SLC22A2	160565739	0.966000	0.33281	0.235000	0.24058	0.084000	0.17831	4.044000	0.57361	1.982000	0.57802	0.456000	0.33151	GAA		0.413	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		84	81	0	0	0	1	0	84	81				
ABI3BP	25890	broad.mit.edu	37	3	100569567	100569567	+	Missense_Mutation	SNP	G	G	A	rs377450718		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:100569567G>A	ENST00000284322.5	-	14	1346	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R462C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	413					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R413C(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCCAGAATACGATCACTTGTT	0.343																																						ENST00000471714.1																			1	Substitution - Missense(1)	p.R413C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1384-1386)Cgt>Tgt		ABI family, member 3 (NESH) binding protein		G	CYS/ARG	0,3622		0,0,1811	129.0	127.0	127.0		1237	1.4	0.7	3		127	1,8133		0,1,4066	no	missense	ABI3BP	NM_015429.3	180	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging	413/1076	100569567	1,11755	1811	4067	5878	SO:0001583	missense	25890					extracellular space		g.chr3:100569567G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1237C>T	3.37:g.100569567G>A	ENSP00000284322:p.Arg413Cys					ABI3BP_ENST00000284322.5_Missense_Mutation_p.R413C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C	p.R462C			Q7Z7G0	TARSH_HUMAN			16	1493	-			424			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1384C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.510692|2.510692	0.44660|0.44660	0.0|0.0	1.23E-4|1.23E-4	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000459682	T;T;T|.	0.57436|.	0.4;0.4;0.4|.	5.86|5.86	1.4|1.4	0.22301|0.22301	.|.	0.777035|.	0.12965|.	N|.	0.424639|.	T|T	0.36799|0.36799	0.0980|0.0980	N|N	0.22421|0.22421	0.69|0.69	0.53688|0.53688	D|D	0.99997|0.99997	P;P|.	0.47350|.	0.894;0.876|.	B;B|.	0.41723|.	0.365;0.183|.	T|T	0.06409|0.06409	-1.0828|-1.0828	10|5	0.66056|.	D|.	0.02|.	0.076|0.076	4.999|4.999	0.14255|0.14255	0.3437:0.1561:0.5002:0.0|0.3437:0.1561:0.5002:0.0	.|.	462;413|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	C|L	462;413;462|38	ENSP00000420524:R462C;ENSP00000284322:R413C;ENSP00000433993:R462C|.	ENSP00000284322:R413C|.	R|S	-|-	1|2	0|0	ABI3BP|ABI3BP	102052257|102052257	0.998000|0.998000	0.40836|0.40836	0.688000|0.688000	0.30117|0.30117	0.889000|0.889000	0.51656|0.51656	1.030000|1.030000	0.30153|0.30153	0.438000|0.438000	0.26450|0.26450	-0.182000|-0.182000	0.12963|0.12963	CGT|TCG		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			17	73	0	0	0	1	0	17	73				
SLCO4C1	353189	broad.mit.edu	37	5	101583097	101583097	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:101583097G>A	ENST00000310954.6	-	10	1956	c.1670C>T	c.(1669-1671)aCt>aTt	p.T557I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGTTTCTGCAGTGGATGTTAT	0.284																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1669-1671)aCt>aTt		solute carrier organic anion transporter family, member 4C1							98.0	108.0	104.0					5																	101583097		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101583097G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1670C>T	5.37:g.101583097G>A	ENSP00000309741:p.Thr557Ile						p.T557I	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	1956	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	557						Missense_Mutation	SNP	ENST00000310954.6	37	c.1670C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145065	0.21288	.	.	ENSG00000173930	ENST00000310954	T	0.41758	0.99	6.17	1.35	0.21983	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.380200	0.04380	N	0.360606	T	0.31167	0.0788	L	0.29908	0.895	0.09310	N	1	B	0.26708	0.157	B	0.33121	0.158	T	0.28681	-1.0036	10	0.38643	T	0.18	.	0.3441	0.00338	0.3114:0.1317:0.2866:0.2703	.	557	Q6ZQN7	SO4C1_HUMAN	I	557	ENSP00000309741:T557I	ENSP00000309741:T557I	T	-	2	0	SLCO4C1	101610996	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.578000	0.05841	0.166000	0.19597	0.655000	0.94253	ACT		0.284	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		22	78	0	0	0	1	0	22	78				
FAM65A	79567	broad.mit.edu	37	16	67574393	67574393	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:67574393G>A	ENST00000379312.3	+	9	797	c.676G>A	c.(676-678)Gat>Aat	p.D226N	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.D242N|FAM65A_ENST00000428437.2_Missense_Mutation_p.D236N|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.D222N|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.D242N	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	226						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGTGTAGGCGATCAGTATGA	0.572																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(724-726)Gat>Aat		family with sequence similarity 65, member A							116.0	110.0	112.0					16																	67574393		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67574393G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.676G>A	16.37:g.67574393G>A	ENSP00000368614:p.Asp226Asn					FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Missense_Mutation_p.D226N|FAM65A_ENST00000428437.2_Missense_Mutation_p.D236N|FAM65A_ENST00000422602.2_Missense_Mutation_p.D242N|FAM65A_ENST00000042381.4_Missense_Mutation_p.D222N	p.D242N			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	10	944	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	226					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.724G>A	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.797298|4.797298	0.90538|0.90538	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.02258|.	4.37;4.37;4.37|.	5.33|5.33	4.32|4.32	0.51571|0.51571	.|.	0.097397|.	0.64402|.	D|.	0.000002|.	T|T	0.76169|0.76169	0.3950|0.3950	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.75020|.	0.972;0.972;0.972;0.985|.	T|T	0.78064|0.78064	-0.2350|-0.2350	10|5	0.87932|.	D|.	0|.	-12.8084|-12.8084	14.7679|14.7679	0.69654|0.69654	0.0:0.0:0.8549:0.1451|0.0:0.0:0.8549:0.1451	.|.	236;242;226;242|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	N|Q	226;222;242;236|216	ENSP00000368614:D226N;ENSP00000042381:D222N;ENSP00000400099:D242N|.	ENSP00000042381:D222N|.	D|R	+|+	1|2	0|0	FAM65A|FAM65A	66131894|66131894	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.598000|0.598000	0.36846|0.36846	7.861000|7.861000	0.87004|0.87004	2.511000|2.511000	0.84671|0.84671	0.555000|0.555000	0.69702|0.69702	GAT|CGA		0.572	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		19	44	0	0	0	1	0	19	44				
SLC12A1	6557	broad.mit.edu	37	15	48566800	48566800	+	Missense_Mutation	SNP	T	T	G	rs201516084	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:48566800T>G	ENST00000558405.1	+	19	2449	c.2435T>G	c.(2434-2436)aTa>aGa	p.I812R	SLC12A1_ENST00000380993.3_Missense_Mutation_p.I812R|SLC12A1_ENST00000396577.3_Missense_Mutation_p.I812R			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	812					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCGTGGTTATAGTCAGAATC	0.383																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2434-2436)aTa>aGa		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	T	ARG/ILE,ARG/ILE	0,4396		0,0,2198	128.0	111.0	117.0		2435,2435	5.9	1.0	15		117	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	SLC12A1	NM_000338.2,NM_001184832.1	97,97	0,1,6494	GG,GT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	812/1100,812/1100	48566800	1,12989	2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48566800T>G		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2435T>G	15.37:g.48566800T>G	ENSP00000453409:p.Ile812Arg					SLC12A1_ENST00000380993.3_Missense_Mutation_p.I812R|SLC12A1_ENST00000558405.1_Missense_Mutation_p.I812R	p.I812R	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	20	2650	+		all_lung(180;0.00219)	812					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2435T>G	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328896	0.81690	0.0	1.16E-4	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.94793	-3.52;-3.52	5.9	5.9	0.94986	.	0.159796	0.52532	D	0.000068	D	0.96253	0.8778	M	0.81112	2.525	0.80722	D	1	P;P	0.49185	0.918;0.92	P;P	0.52909	0.553;0.713	D	0.96649	0.9480	10	0.87932	D	0	.	15.9916	0.80208	0.0:0.0:0.0:1.0	.	812;812	E9PDW4;Q13621	.;S12A1_HUMAN	R	812	ENSP00000370381:I812R;ENSP00000379822:I812R	ENSP00000370381:I812R	I	+	2	0	SLC12A1	46354092	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	6.662000	0.74426	2.259000	0.74868	0.482000	0.46254	ATA		0.383	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			11	34	0	0	0	1	0	11	34				
FASTKD3	79072	broad.mit.edu	37	5	7862969	7862969	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:7862969G>C	ENST00000264669.5	-	4	1802	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	556					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AACACTTTTGGAGCAAAATAT	0.388																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1666-1668)Cca>Gca		FAST kinase domains 3							116.0	128.0	124.0					5																	7862969		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7862969G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1666C>G	5.37:g.7862969G>C	ENSP00000264669:p.Pro556Ala					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	p.P556A	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			4	1802	-			556					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1666C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469522	0.26423	.	.	ENSG00000124279	ENST00000264669	T	0.39997	1.05	5.65	3.07	0.35406	FAST kinase-like protein, subdomain 2 (1);	0.206543	0.43416	D	0.000568	T	0.19287	0.0463	N	0.11427	0.14	0.27247	N	0.959008	B	0.13145	0.007	B	0.13407	0.009	T	0.24621	-1.0155	10	0.08599	T	0.76	-5.5503	8.4278	0.32739	0.7998:0.1318:0.0684:0.0	.	556	Q14CZ7	FAKD3_HUMAN	A	556	ENSP00000264669:P556A	ENSP00000264669:P556A	P	-	1	0	FASTKD3	7915969	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.534000	0.53568	0.525000	0.28522	-0.290000	0.09829	CCA		0.388	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		19	296	0	0	0	1	0	19	296				
DMD	1756	broad.mit.edu	37	X	32328384	32328384	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:32328384G>A	ENST00000357033.4	-	42	6138	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	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	1978					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)				GTTTCTTCACGGACAGTGTGC	0.378																																						ENST00000357033.4																			0				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						c.(5932-5934)Cgt>Tgt		dystrophin							84.0	70.0	75.0					X																	32328384		2202	4300	6502	SO:0001583	missense	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:32328384G>A	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.5932C>T	X.37:g.32328384G>A	ENSP00000354923:p.Arg1978Cys					DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	p.R1978C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			42	6138	-		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)	1978					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5932C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690635	0.48097	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61742	0.08;0.08	6.16	5.3	0.74995	.	0.406531	0.17675	U	0.165837	T	0.41789	0.1174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.48640	0.894;0.913;0.913;0.913;0.913	B;B;B;B;B	0.43990	0.311;0.438;0.438;0.438;0.438	T	0.27054	-1.0085	10	0.39692	T	0.17	.	9.4809	0.38900	0.1542:0.0:0.8458:0.0	.	1970;1978;1974;637;634	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	C	1970;637;634;1974;1978;1978;1855	ENSP00000367948:R1974C;ENSP00000354923:R1978C	ENSP00000354923:R1978C	R	-	1	0	DMD	32238305	0.998000	0.40836	0.995000	0.50966	0.978000	0.69477	3.138000	0.50570	2.614000	0.88457	0.594000	0.82650	CGT		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	17	0	0	0	1	0	12	17				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	85	0	0	0	1	0	4	85				
ESRRA	2101	broad.mit.edu	37	11	64082285	64082285	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:64082285C>T	ENST00000405666.1	+	5	878	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ESRRA_ENST00000406310.1_Missense_Mutation_p.P214L|ESRRA_ENST00000000442.6_Missense_Mutation_p.P215L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	215	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCCTGACCCCGCAGGCCCT	0.582																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(643-645)cCc>cTc		estrogen-related receptor alpha							66.0	67.0	67.0					11																	64082285		2078	4226	6304	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082285C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.644C>T	11.37:g.64082285C>T	ENSP00000384851:p.Pro215Leu					ESRRA_ENST00000406310.1_Missense_Mutation_p.P214L|ESRRA_ENST00000000442.6_Missense_Mutation_p.P215L	p.P215L			P11474	ERR1_HUMAN			5	878	+			215			Ligand binding domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.644C>T	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850428	0.32699	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.78456	2.415	0.80722	D	1	P;D	0.56035	0.656;0.974	B;P	0.48873	0.213;0.593	T	0.47799	-0.9089	10	0.27785	T	0.31	.	13.9885	0.64350	0.0:1.0:0.0:0.0	.	214;215	P11474-2;P11474	.;ERR1_HUMAN	L	214;215;72;215	ENSP00000385971:P214L;ENSP00000000442:P215L;ENSP00000439896:P72L;ENSP00000384851:P215L	ENSP00000000442:P215L	P	+	2	0	ESRRA	63838861	1.000000	0.71417	0.959000	0.39883	0.379000	0.30106	7.519000	0.81809	2.232000	0.73038	0.462000	0.41574	CCC		0.582	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		20	44	0	0	0	1	0	20	44				
CMYA5	202333	broad.mit.edu	37	5	79031379	79031379	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:79031379A>T	ENST00000446378.2	+	2	6822	c.6791A>T	c.(6790-6792)gAa>gTa	p.E2264V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2264					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACGTTAAAGAAAAATCCATG	0.348																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6790-6792)gAa>gTa		cardiomyopathy associated 5							65.0	69.0	68.0					5																	79031379		1795	4065	5860	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031379A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6791A>T	5.37:g.79031379A>T	ENSP00000394770:p.Glu2264Val						p.E2264V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6822	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2264					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6791A>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777585	0.31502	.	.	ENSG00000164309	ENST00000446378	T	0.23950	1.88	5.83	1.94	0.25998	.	0.338620	0.25581	N	0.029681	T	0.25195	0.0612	M	0.69823	2.125	0.29545	N	0.851822	B	0.31680	0.335	B	0.31016	0.123	T	0.18147	-1.0346	10	0.87932	D	0	.	6.6188	0.22792	0.5208:0.3355:0.0:0.1437	.	2264	Q8N3K9	CMYA5_HUMAN	V	2264	ENSP00000394770:E2264V	ENSP00000394770:E2264V	E	+	2	0	CMYA5	79067135	0.649000	0.27322	0.851000	0.33527	0.003000	0.03518	0.283000	0.18846	0.085000	0.17107	-0.340000	0.08031	GAA		0.348	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		26	62	0	0	0	1	0	26	62				
PKD2	5311	broad.mit.edu	37	4	88986917	88986917	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:88986917G>A	ENST00000508588.1	+	7	893	c.498G>A	c.(496-498)aaG>aaA	p.K166K	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Silent_p.K166K|PKD2_ENST00000237596.2_Silent_p.K748K			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTTCAGGAAGGGCCATACTG	0.433																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2242-2244)aaG>aaA		polycystic kidney disease 2 (autosomal dominant)							149.0	139.0	142.0					4																	88986917		2203	4300	6503	SO:0001819	synonymous_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986917G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.498G>A	4.37:g.88986917G>A						PKD2_ENST00000502363.1_Silent_p.K166K|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Silent_p.K166K	p.K748K	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	12	2310	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	748			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000508588.1	37	c.2244G>A																																																																																					0.433	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		57	70	0	0	0	1	0	57	70				
FAP	2191	broad.mit.edu	37	2	163029373	163029373	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr2:163029373G>A	ENST00000188790.4	-	25	2336	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L	FAP_ENST00000443424.1_Missense_Mutation_p.S685L|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AATCTGTGCTGAGTTTTGAAA	0.398																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(2128-2130)tCa>tTa		fibroblast activation protein, alpha							110.0	102.0	105.0					2																	163029373		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163029373G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2129C>T	2.37:g.163029373G>A	ENSP00000188790:p.Ser710Leu					FAP_ENST00000443424.1_Missense_Mutation_p.S685L|AC007750.5_ENST00000418968.2_RNA	p.S710L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			25	2336	-			710						Missense_Mutation	SNP	ENST00000188790.4	37	c.2129C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570089	0.86542	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.064020	0.64402	D	0.000007	T	0.64875	0.2638	M	0.81112	2.525	0.80722	D	1	P;D;D	0.76494	0.874;0.984;0.999	P;P;D	0.72075	0.824;0.613;0.976	T	0.67960	-0.5535	10	0.87932	D	0	-27.2625	19.8949	0.96954	0.0:0.0:1.0:0.0	.	685;189;710	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	L	710;685	ENSP00000188790:S710L;ENSP00000411391:S685L	ENSP00000188790:S710L	S	-	2	0	FAP	162737619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.264000	0.95635	2.770000	0.95276	0.655000	0.94253	TCA		0.398	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			22	49	0	0	0	1	0	22	49				
HLA-B	3106	broad.mit.edu	37	6	31323247	31323247	+	Missense_Mutation	SNP	G	G	T	rs72558120		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr6:31323247G>T	ENST00000412585.2	-	4	770	c.742C>A	c.(742-744)Caa>Aaa	p.Q248K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	248	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTGAGTTTGGTCCTCGCCA	0.592									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(742-744)Caa>Aaa		major histocompatibility complex, class I, B							110.0	97.0	101.0					6																	31323247		2203	4300	6503	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323247G>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.742C>A	6.37:g.31323247G>T	ENSP00000399168:p.Gln248Lys						p.Q248K	NM_005514.6	NP_005505.2					4	770	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.742C>A	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	9.287	1.049596	0.19827	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.02812	4.15	3.16	3.16	0.36331	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.890881	0.09224	U	0.831557	T	0.03871	0.0109	M	0.80183	2.485	0.21802	N	0.999531	P	0.38677	0.642	P	0.46253	0.509	T	0.32402	-0.9908	10	0.87932	D	0	.	8.5215	0.33279	0.0:0.2395:0.7604:0.0	.	248	P01889	1B07_HUMAN	K	248;127;127	ENSP00000399168:Q248K	ENSP00000399168:Q248K	Q	-	1	0	HLA-B	31431226	0.002000	0.14202	0.946000	0.38457	0.207000	0.24258	1.032000	0.30178	1.804000	0.52760	0.442000	0.29010	CAA		0.592	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		21	80	1	0	1.01871e-10	1	1.11832e-10	21	80				
OR6Q1	219952	broad.mit.edu	37	11	57799050	57799050	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:57799050C>A	ENST00000302622.3	+	1	649	c.626C>A	c.(625-627)gCt>gAt	p.A209D	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTGTCTCTGGCTGTGCTACTG	0.537																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(625-627)gCt>gAt		olfactory receptor, family 6, subfamily Q, member 1							212.0	184.0	193.0					11																	57799050		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799050C>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.626C>A	11.37:g.57799050C>A	ENSP00000307734:p.Ala209Asp					OR9Q1_ENST00000335397.3_Intron	p.A209D	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	649	+		Breast(21;0.0707)|all_epithelial(135;0.142)	209					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.626C>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343693	0.24339	.	.	ENSG00000172381	ENST00000302622	T	0.38240	1.15	5.0	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.410373	0.17760	N	0.162940	T	0.38188	0.1031	L	0.58354	1.805	0.09310	N	1	B	0.33299	0.407	B	0.41619	0.361	T	0.30534	-0.9975	10	0.49607	T	0.09	.	7.1523	0.25618	0.0:0.6545:0.0:0.3455	.	209	Q8NGQ2	OR6Q1_HUMAN	D	209	ENSP00000307734:A209D	ENSP00000307734:A209D	A	+	2	0	OR6Q1	57555626	0.000000	0.05858	0.558000	0.28319	0.531000	0.34715	0.143000	0.16115	0.527000	0.28560	0.638000	0.83543	GCT		0.537	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		25	60	1	0	4.72057e-08	1	4.98283e-08	25	60				
MACROD1	28992	broad.mit.edu	37	11	63884783	63884783	+	Intron	SNP	C	C	T	rs140908634		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:63884783C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.A348A|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CACGGGCGGCCGTGGTCAACG	0.627																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1042-1044)gcC>gcT		fibronectin leucine rich transmembrane protein 1		C	,	1,4401	2.1+/-5.4	0,1,2200	51.0	52.0	52.0		1044,	-1.5	0.9	11	dbSNP_134	52	0,8594		0,0,4297	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	348/675,	63884783	1,12995	2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884783C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33927G>A	11.37:g.63884783C>T						MACROD1_ENST00000255681.6_Intron	p.A348A	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	2087	+			320			LRRCT.		Q9UH96	Silent	SNP	ENST00000255681.6	37	c.1044C>T	CCDS8056.1																																																																																				0.627	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		11	39	0	0	0	1	0	11	39				
RBM15B	29890	broad.mit.edu	37	3	51429757	51429757	+	Silent	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:51429757G>T	ENST00000323686.4	+	1	1027	c.927G>T	c.(925-927)ctG>ctT	p.L309L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	309					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTACGGGCTGTACGACGACC	0.697																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(925-927)ctG>ctT		RNA binding motif protein 15B							37.0	40.0	39.0					3																	51429757		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429757G>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.927G>T	3.37:g.51429757G>T							p.L309L	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1027	+			309					A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.927G>T	CCDS33764.1																																																																																				0.697	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		19	13	1	0	5.03518e-11	1	5.60221e-11	19	13				
LINC00969	440993	broad.mit.edu	37	3	195400822	195400822	+	lincRNA	SNP	G	G	A	rs56170658		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418									long intergenic non-protein coding RNA 969																		GTCTGGTCAGGCATGTGCCCT	0.572																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400822G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400822G>A														0	1418	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	96	0	0	0	1	0	5	96				
LRRC8E	80131	broad.mit.edu	37	19	7963763	7963763	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:7963763C>T	ENST00000306708.6	+	3	457	c.356C>T	c.(355-357)cCt>cTt	p.P119L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	119					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AAGTACTTCCCTTACCTCGTG	0.473																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(355-357)cCt>cTt		leucine rich repeat containing 8 family, member E							148.0	140.0	142.0					19																	7963763		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963763C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.356C>T	19.37:g.7963763C>T	ENSP00000306524:p.Pro119Leu					AC010336.1_ENST00000539278.1_3'UTR	p.P119L	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	457	+			119					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.356C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026784	0.75390	.	.	ENSG00000171017	ENST00000306708	T	0.39406	1.08	5.19	5.19	0.71726	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68405	-0.5417	10	0.87932	D	0	.	16.2508	0.82485	0.0:1.0:0.0:0.0	.	119	Q6NSJ5	LRC8E_HUMAN	L	119	ENSP00000306524:P119L	ENSP00000306524:P119L	P	+	2	0	LRRC8E	7869763	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.643000	0.83403	2.709000	0.92574	0.655000	0.94253	CCT		0.473	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		38	152	0	0	0	1	0	38	152				
DOCK4	9732	broad.mit.edu	37	7	111430632	111430632	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:111430632G>T	ENST00000437633.1	-	31	3452	c.3196C>A	c.(3196-3198)Ctg>Atg	p.L1066M	DOCK4_ENST00000428084.1_Missense_Mutation_p.L1066M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1066					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGCCAATCAGGGCAGGGATA	0.378																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3196-3198)Ctg>Atg		dedicator of cytokinesis 4							60.0	60.0	60.0					7																	111430632		1854	4087	5941	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111430632G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3196C>A	7.37:g.111430632G>T	ENSP00000404179:p.Leu1066Met					DOCK4_ENST00000437633.1_Missense_Mutation_p.L1066M	p.L1066M			Q8N1I0	DOCK4_HUMAN			31	3468	-		Acute lymphoblastic leukemia(1;0.0441)	1066					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3196C>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.771|1.771	-0.484426|-0.484426	0.04352|0.04352	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000544250|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288	.|T;T	.|0.72167	.|-0.63;-0.63	5.28|5.28	1.41|1.41	0.22369|0.22369	.|.	.|0.054132	.|0.64402	.|D	.|0.000001	.|T	.|0.35595	.|0.0937	N|N	0.02315|0.02315	-0.6|-0.6	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18310	.|0.009;0.009;0.027	.|B;B;B	.|0.17098	.|0.007;0.011;0.017	.|T	.|0.36504	.|-0.9745	.|10	.|0.02654	.|T	.|1	.|.	7.9093|7.9093	0.29780|0.29780	0.4657:0.0:0.5343:0.0|0.4657:0.0:0.5343:0.0	.|.	.|1102;1066;1066	.|Q149N5;Q8N1I0;Q8N1I0-2	.|.;DOCK4_HUMAN;.	.|M	-1|1054;1066;1066;1054	.|ENSP00000410746:L1066M;ENSP00000404179:L1066M	.|ENSP00000345432:L1054M	.|L	-|-	.|1	.|2	DOCK4|DOCK4	111217868|111217868	0.413000|0.413000	0.25400|0.25400	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.531000|0.531000	0.23052|0.23052	0.434000|0.434000	0.26340|0.26340	0.655000|0.655000	0.94253|0.94253	.|CTG		0.378	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		8	14	1	0	0.00307968	1	0.00315635	8	14				
DCAF12L1	139170	broad.mit.edu	37	X	125686182	125686182	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:125686182C>T	ENST00000371126.1	-	1	652	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	137										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTCACTGTCCCGCAAGAGGGG	0.632																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(409-411)cGg>cAg		DDB1 and CUL4 associated factor 12-like 1							103.0	85.0	91.0					X																	125686182		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686182C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.410G>A	X.37:g.125686182C>T	ENSP00000360167:p.Arg137Gln						p.R137Q	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	652	-			137					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.410G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.759882	0.03019	.	.	ENSG00000198889	ENST00000371126	T	0.32753	1.44	4.15	-1.37	0.09056	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.19208	0.0461	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.10450	0.005	T	0.22034	-1.0228	9	0.35671	T	0.21	.	4.0066	0.09603	0.1622:0.39:0.0:0.4478	.	137	Q5VU92	DC121_HUMAN	Q	137	ENSP00000360167:R137Q	ENSP00000360167:R137Q	R	-	2	0	DCAF12L1	125513863	0.055000	0.20627	0.000000	0.03702	0.005000	0.04900	0.177000	0.16801	-0.638000	0.05509	-0.525000	0.04345	CGG		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		20	37	0	0	0	1	0	20	37				
NR2F1	7025	broad.mit.edu	37	5	92929488	92929488	+	Silent	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:92929488C>T	ENST00000327111.3	+	3	2899	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	404					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R404R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCTCATCCGCGATATGTTAC	0.582																																						ENST00000327111.3																			1	Substitution - coding silent(1)	p.R404R(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1210-1212)cgC>cgT		nuclear receptor subfamily 2, group F, member 1							132.0	122.0	126.0					5																	92929488		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929488C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1212C>T	5.37:g.92929488C>T						NR2F1_ENST00000506162.1_3'UTR	p.R404R	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2899	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	404						Silent	SNP	ENST00000327111.3	37	c.1212C>T	CCDS4068.1																																																																																				0.582	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		57	114	0	0	0	1	0	57	114				
GIN1	54826	broad.mit.edu	37	5	102442588	102442588	+	Silent	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:102442588T>C	ENST00000399004.2	-	3	259	c.165A>G	c.(163-165)aaA>aaG	p.K55K	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Silent_p.K55K	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	55					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GTTTTCTGTCTTTTCCAACAT	0.313																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(163-165)aaA>aaG		gypsy retrotransposon integrase 1							49.0	44.0	45.0					5																	102442588		1803	4073	5876	SO:0001819	synonymous_variant	54826				DNA integration		DNA binding	g.chr5:102442588T>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.165A>G	5.37:g.102442588T>C						GIN1_ENST00000508629.1_Silent_p.K55K	p.K55K	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	259	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	55					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Silent	SNP	ENST00000399004.2	37	c.165A>G	CCDS43349.1																																																																																				0.313	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		8	18	0	0	0	1	0	8	18				
TCF7	6932	broad.mit.edu	37	5	133451660	133451660	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:133451660A>T	ENST00000321584.4	+	3	573	c.377A>T	c.(376-378)aAt>aTt	p.N126I	TCF7_ENST00000518915.1_Missense_Mutation_p.N11I|TCF7_ENST00000395023.1_Missense_Mutation_p.N11I|TCF7_ENST00000520958.1_Missense_Mutation_p.N11I|TCF7_ENST00000321603.6_Missense_Mutation_p.N126I|TCF7_ENST00000378564.1_Missense_Mutation_p.N126I|TCF7_ENST00000342854.5_Missense_Mutation_p.N126I|TCF7_ENST00000432532.2_Missense_Mutation_p.N11I|TCF7_ENST00000395029.1_Missense_Mutation_p.N126I|TCF7_ENST00000378560.4_Missense_Mutation_p.N11I			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	126					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCGCCTTCAATCTGCTCATG	0.652																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(376-378)aAt>aTt		transcription factor 7 (T-cell specific, HMG-box)							71.0	70.0	70.0					5																	133451660		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133451660A>T	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.377A>T	5.37:g.133451660A>T	ENSP00000326540:p.Asn126Ile					TCF7_ENST00000378564.1_Missense_Mutation_p.N126I|TCF7_ENST00000520958.1_Missense_Mutation_p.N11I|TCF7_ENST00000432532.2_Missense_Mutation_p.N11I|TCF7_ENST00000342854.5_Missense_Mutation_p.N126I|TCF7_ENST00000321584.4_Missense_Mutation_p.N126I|TCF7_ENST00000518915.1_Missense_Mutation_p.N11I|TCF7_ENST00000321603.6_Missense_Mutation_p.N126I|TCF7_ENST00000395023.1_Missense_Mutation_p.N11I|TCF7_ENST00000378560.4_Missense_Mutation_p.N11I	p.N126I			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	572	+		Breast(839;0.058)	126					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.377A>T		.	.	.	.	.	.	.	.	.	.	A	21.9	4.213446	0.79352	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023	D;D;D;D;D;D;D;D;D;D	0.99264	-5.57;-5.61;-5.62;-5.63;-5.6;-5.6;-5.65;-5.61;-5.62;-5.61	5.2	5.2	0.72013	CTNNB1 binding, N-teminal (1);	0.122489	0.52532	D	0.000062	D	0.98432	0.9478	N	0.22421	0.69	0.32989	D	0.524721	D;D;D;D	0.76494	0.991;0.999;0.999;0.997	D;D;D;D	0.87578	0.991;0.997;0.998;0.994	D	0.98688	1.0695	10	0.22706	T	0.39	.	11.5274	0.50588	1.0:0.0:0.0:0.0	.	126;126;126;126	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	I	126;126;126;126;126;126;11;11;11;11;11;11;11;11;11	ENSP00000340347:N126I;ENSP00000326654:N126I;ENSP00000326540:N126I;ENSP00000367827:N126I;ENSP00000378472:N126I;ENSP00000367822:N11I;ENSP00000397946:N11I;ENSP00000429547:N11I;ENSP00000430179:N11I;ENSP00000378469:N11I	ENSP00000326540:N126I	N	+	2	0	TCF7	133479559	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.058000	0.64300	1.969000	0.57287	0.456000	0.33151	AAT		0.652	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		13	36	0	0	0	1	0	13	36				
KBTBD2	25948	broad.mit.edu	37	7	32909365	32909365	+	Silent	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr7:32909365G>A	ENST00000304056.4	-	4	2163	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	488										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CAGTGCCAGAGGGGAGTCTTA	0.428																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1462-1464)ccC>ccT		kelch repeat and BTB (POZ) domain containing 2							105.0	105.0	105.0					7																	32909365		2203	4300	6503	SO:0001819	synonymous_variant	25948							g.chr7:32909365G>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1464C>T	7.37:g.32909365G>A						AVL9_ENST00000404479.1_Intron	p.P488P	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2163	-			488					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Silent	SNP	ENST00000304056.4	37	c.1464C>T	CCDS34614.1																																																																																				0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		26	140	0	0	0	1	0	26	140				
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr15:102292832G>C	ENST00000561463.1	+	0	878									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGCGTC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292832G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292832G>C														0	878	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	51	0	0	0	1	0	6	51				
AIFM3	150209	broad.mit.edu	37	22	21334349	21334349	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr22:21334349C>A	ENST00000399167.2	+	19	1933	c.1693C>A	c.(1693-1695)Ccc>Acc	p.P565T	LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.P553T|AIFM3_ENST00000405089.1_Missense_Mutation_p.P571T|AIFM3_ENST00000440238.2_Missense_Mutation_p.P565T|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000399163.2_Missense_Mutation_p.P565T|AIFM3_ENST00000333607.6_Missense_Mutation_p.P565T|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	565					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAACTACGATCCCATTGTGTC	0.622																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1693-1695)Ccc>Acc		apoptosis-inducing factor, mitochondrion-associated, 3							76.0	60.0	66.0					22																	21334349		2203	4300	6503	SO:0001583	missense	150209							g.chr22:21334349C>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1693C>A	22.37:g.21334349C>A	ENSP00000382120:p.Pro565Thr					LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.P565T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.P553T|AIFM3_ENST00000333607.6_Missense_Mutation_p.P565T|AIFM3_ENST00000399163.2_Missense_Mutation_p.P565T|AIFM3_ENST00000405089.1_Missense_Mutation_p.P571T	p.P565T	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		19	1933	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.1693C>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140252	0.94560	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.67517	2.055	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.844;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.995;0.482;0.994;0.999;0.999;0.998	T	0.64127	-0.6480	10	0.54805	T	0.06	-8.7957	15.562	0.76256	0.0:1.0:0.0:0.0	.	553;5;553;571;565;565	B7Z9S7;F5GXU8;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;.;AIFM3_HUMAN	T	565;565;571;553;565;565;5	ENSP00000382120:P565T;ENSP00000382116:P565T;ENSP00000385800:P571T;ENSP00000335369:P553T;ENSP00000390798:P565T;ENSP00000327671:P565T	ENSP00000327671:P565T	P	+	1	0	AIFM3;LZTR1	19664349	1.000000	0.71417	0.992000	0.48379	0.911000	0.54048	6.802000	0.75175	2.530000	0.85305	0.655000	0.94253	CCC		0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		11	41	1	0	3.07112e-06	1	3.2007e-06	11	41				
MYH3	4621	broad.mit.edu	37	17	10543023	10543023	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr17:10543023C>T	ENST00000583535.1	-	23	2866	c.2779G>A	c.(2779-2781)Gct>Act	p.A927T	MYH3_ENST00000226209.7_Missense_Mutation_p.A927T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	927					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTTCAGCTCTCTCTGTC	0.468																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2779-2781)Gct>Act		myosin, heavy chain 3, skeletal muscle, embryonic							269.0	253.0	259.0					17																	10543023		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543023C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2779G>A	17.37:g.10543023C>T	ENSP00000464317:p.Ala927Thr					MYH3_ENST00000226209.7_Missense_Mutation_p.A927T	p.A927T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			23	2866	-			927					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2779G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662824	0.47572	.	.	ENSG00000109063	ENST00000226209	D	0.91068	-2.78	5.22	5.22	0.72569	.	.	.	.	.	D	0.86990	0.6066	L	0.40543	1.245	0.35081	D	0.763388	B	0.30511	0.282	B	0.29077	0.098	D	0.89916	0.4055	9	0.87932	D	0	.	14.7356	0.69414	0.0:0.8557:0.1443:0.0	.	927	P11055	MYH3_HUMAN	T	927	ENSP00000226209:A927T	ENSP00000226209:A927T	A	-	1	0	MYH3	10483748	0.081000	0.21417	0.998000	0.56505	0.759000	0.43091	0.481000	0.22260	2.581000	0.87130	0.655000	0.94253	GCT		0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		68	196	0	0	0	1	0	68	196				
FGD5	152273	broad.mit.edu	37	3	14861572	14861572	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:14861572A>T	ENST00000285046.5	+	1	1104	c.994A>T	c.(994-996)Aat>Tat	p.N332Y	FGD5_ENST00000543601.1_Missense_Mutation_p.N91Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	332					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCTTTTGAGAATGACTGCAT	0.547																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(994-996)Aat>Tat		FYVE, RhoGEF and PH domain containing 5							85.0	87.0	87.0					3																	14861572		1977	4177	6154	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861572A>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.994A>T	3.37:g.14861572A>T	ENSP00000285046:p.Asn332Tyr					FGD5_ENST00000543601.1_Missense_Mutation_p.N91Y	p.N332Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1104	+			332					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.994A>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264457	0.39995	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76060	-0.99;-0.84	5.34	2.91	0.33838	.	0.651620	0.15091	N	0.281076	T	0.58935	0.2157	L	0.27053	0.805	0.29643	N	0.844535	P;P	0.46395	0.877;0.877	B;B	0.39185	0.293;0.293	T	0.56914	-0.7900	10	0.72032	D	0.01	-1.9852	8.201	0.31424	0.7958:0.1344:0.0697:0.0	.	91;332	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	Y	332;91	ENSP00000285046:N332Y;ENSP00000445949:N91Y	ENSP00000285046:N332Y	N	+	1	0	FGD5	14836576	0.987000	0.35691	0.405000	0.26409	0.072000	0.16883	2.354000	0.44098	0.326000	0.23384	0.533000	0.62120	AAT		0.547	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		156	28	0	0	0	1	0	156	28				
CCSER2	54462	broad.mit.edu	37	10	86132112	86132112	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr10:86132112C>T	ENST00000224756.8	+	2	1489	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	CCSER2_ENST00000359979.4_Missense_Mutation_p.S435F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S435F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	435					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GAGGAAATGTCTCTCAAAGAA	0.348																																						ENST00000224756.8																			0											c.(1303-1305)tCt>tTt		coiled-coil serine-rich protein 2							81.0	88.0	85.0					10																	86132112		2203	4298	6501	SO:0001583	missense	54462							g.chr10:86132112C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1304C>T	10.37:g.86132112C>T	ENSP00000224756:p.Ser435Phe					CCSER2_ENST00000359979.4_Missense_Mutation_p.S435F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S435F	p.S435F	NM_018999.2	NP_061872.2					2	1489	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1304C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136490	0.21123	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.47528	0.84;2.18;2.16	5.47	3.61	0.41365	.	0.781525	0.11274	N	0.581066	T	0.58694	0.2140	L	0.44542	1.39	0.80722	D	1	D;P;P	0.53885	0.963;0.693;0.874	P;P;P	0.56960	0.81;0.588;0.568	T	0.52997	-0.8500	10	0.52906	T	0.07	-3.8569	16.6425	0.85130	0.0:0.7531:0.2469:0.0	.	435;435;435	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	F	435	ENSP00000353068:S435F;ENSP00000224756:S435F;ENSP00000361160:S435F	ENSP00000224756:S435F	S	+	2	0	FAM190B	86122092	0.979000	0.34478	0.994000	0.49952	0.431000	0.31685	1.137000	0.31479	0.284000	0.22305	-0.795000	0.03280	TCT		0.348	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		55	64	0	0	0	1	0	55	64				
TRPT1	83707	broad.mit.edu	37	11	63992034	63992034	+	Silent	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:63992034T>C	ENST00000317459.6	-	5	651	c.483A>G	c.(481-483)ggA>ggG	p.G161G	TRPT1_ENST00000546089.1_Silent_p.G112G|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394547.3_Silent_p.G112G|TRPT1_ENST00000541278.1_Silent_p.G161G|TRPT1_ENST00000394546.2_Silent_p.G163G|TRPT1_ENST00000546133.1_Silent_p.G35G|NUDT22_ENST00000279206.3_5'Flank|NUDT22_ENST00000441250.2_5'Flank			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	161					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						TACCGGGGTCTCCAGGCAGTC	0.577																																						ENST00000394546.2																			0				lung(2)|skin(1)	3						c.(487-489)ggA>ggG		tRNA phosphotransferase 1							94.0	85.0	88.0					11																	63992034		2201	4297	6498	SO:0001819	synonymous_variant	83707						tRNA 2'-phosphotransferase activity	g.chr11:63992034T>C		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.483A>G	11.37:g.63992034T>C						TRPT1_ENST00000546133.1_Silent_p.G35G|TRPT1_ENST00000546089.1_Silent_p.G112G|TRPT1_ENST00000541278.1_Silent_p.G161G|TRPT1_ENST00000394547.3_Silent_p.G112G|TRPT1_ENST00000317459.6_Silent_p.G161G	p.G163G	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN			5	702	-			161					A8MU17|A8MYC9|F5H2B2|Q9BSB9	Silent	SNP	ENST00000317459.6	37	c.489A>G	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	T	7.799	0.713273	0.15306	.	.	ENSG00000149743	ENST00000544286	.	.	.	4.75	0.46	0.16684	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43310	-0.9399	4	.	.	.	-13.4836	6.2471	0.20825	0.0:0.5978:0.1398:0.2624	.	.	.	.	G	25	.	.	R	-	1	2	TRPT1	63748610	0.794000	0.28838	0.999000	0.59377	0.753000	0.42808	0.018000	0.13422	0.544000	0.28883	-0.366000	0.07423	AGA		0.577	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472		17	23	0	0	0	1	0	17	23				
IMPACT	55364	broad.mit.edu	37	18	22017938	22017938	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr18:22017938A>G	ENST00000284202.4	+	5	442	c.301A>G	c.(301-303)Att>Gtt	p.I101V	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	101	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CGGTGAAAGTATTCTTTACCT	0.299																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(301-303)Att>Gtt		impact RWD domain protein							45.0	50.0	48.0					18																	22017938		2197	4272	6469	SO:0001583	missense	55364							g.chr18:22017938A>G	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.301A>G	18.37:g.22017938A>G	ENSP00000284202:p.Ile101Val					RP11-178F10.1_ENST00000579049.1_RNA	p.I101V	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			5	442	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		101			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.301A>G	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934883	0.34189	.	.	ENSG00000154059	ENST00000284202	T	0.16324	2.35	5.48	5.48	0.80851	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.35542	1.07	0.53005	D	0.999963	B	0.34147	0.438	B	0.39339	0.297	T	0.09079	-1.0691	10	0.19590	T	0.45	.	14.5246	0.67878	1.0:0.0:0.0:0.0	.	101	Q9P2X3	IMPCT_HUMAN	V	101	ENSP00000284202:I101V	ENSP00000284202:I101V	I	+	1	0	IMPACT	20271936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.360000	0.66086	2.060000	0.61445	0.533000	0.62120	ATT		0.299	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		46	47	0	0	0	1	0	46	47				
CDH9	1007	broad.mit.edu	37	5	26915930	26915930	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:26915930G>C	ENST00000231021.4	-	3	503	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	111	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCAGCATGAATGTCTCCT	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(331-333)Cat>Gat		cadherin 9, type 2 (T1-cadherin)							138.0	140.0	140.0					5																	26915930		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915930G>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.331C>G	5.37:g.26915930G>C	ENSP00000231021:p.His111Asp						p.H111D	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			3	503	-			111			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.331C>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505605	0.85282	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.51071	0.72;0.72	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.050254	0.85682	D	0.000000	T	0.74604	0.3738	M	0.91459	3.21	0.52099	D	0.999943	D;P	0.76494	0.999;0.819	D;P	0.73708	0.981;0.893	T	0.81632	-0.0845	9	.	.	.	.	16.4099	0.83704	0.0:0.0:1.0:0.0	.	111;111	E7EPN0;Q9ULB4	.;CADH9_HUMAN	D	111	ENSP00000231021:H111D;ENSP00000426239:H111D	.	H	-	1	0	CDH9	26951687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.310000	0.96267	2.275000	0.75901	0.585000	0.79938	CAT		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	158	0	0	0	1	0	7	158				
PCDHAC1	56135	broad.mit.edu	37	5	140307218	140307218	+	Silent	SNP	C	C	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr5:140307218C>A	ENST00000253807.2	+	1	741	c.741C>A	c.(739-741)ccC>ccA	p.P247P	PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P247P|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	247	Cadherin 3. {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)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTGCACCCAATGGGACTG	0.532																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(739-741)ccC>ccA									65.0	67.0	66.0					5																	140307218		2203	4300	6503	SO:0001819	synonymous_variant	56135							g.chr5:140307218C>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.741C>A	5.37:g.140307218C>A						PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P247P|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.P247P	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	741	+								Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.741C>A	CCDS4241.1																																																																																				0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		15	39	1	0	1.3612e-06	1	1.42465e-06	15	39				
THAP6	152815	broad.mit.edu	37	4	76442057	76442057	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr4:76442057T>G	ENST00000311638.3	+	3	224	c.156T>G	c.(154-156)atT>atG	p.I52M	RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000380840.2_5'Flank|THAP6_ENST00000504190.1_Missense_Mutation_p.I11M|THAP6_ENST00000380837.3_Missense_Mutation_p.I52M|RCHY1_ENST00000324439.5_5'Flank|RCHY1_ENST00000451788.1_5'Flank|RCHY1_ENST00000512706.1_5'Flank|THAP6_ENST00000502620.1_Missense_Mutation_p.I11M|THAP6_ENST00000507557.1_Missense_Mutation_p.I11M|THAP6_ENST00000507885.1_Missense_Mutation_p.I11M|THAP6_ENST00000508105.1_Missense_Mutation_p.I11M|RCHY1_ENST00000513257.1_5'Flank|THAP6_ENST00000507556.1_Missense_Mutation_p.I52M|THAP6_ENST00000514480.1_Missense_Mutation_p.I52M	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	52						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CAGCCGGCATTTGGGAGCCTA	0.363																																						ENST00000311638.3																			0				lung(5)	5						c.(154-156)atT>atG		THAP domain containing 6							128.0	129.0	128.0					4																	76442057		2203	4300	6503	SO:0001583	missense	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76442057T>G	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.156T>G	4.37:g.76442057T>G	ENSP00000309007:p.Ile52Met					THAP6_ENST00000380837.3_Missense_Mutation_p.I52M|THAP6_ENST00000502620.1_Missense_Mutation_p.I11M|THAP6_ENST00000504190.1_Missense_Mutation_p.I11M|THAP6_ENST00000514480.1_Missense_Mutation_p.I52M|THAP6_ENST00000507556.1_Missense_Mutation_p.I52M|THAP6_ENST00000507557.1_Missense_Mutation_p.I11M|THAP6_ENST00000508105.1_Missense_Mutation_p.I11M|THAP6_ENST00000507885.1_Missense_Mutation_p.I11M	p.I52M	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	224	+			52					B4E146|Q5HYJ7|Q5JPC6	Missense_Mutation	SNP	ENST00000311638.3	37	c.156T>G	CCDS3568.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979770	0.34942	.	.	ENSG00000174796	ENST00000506261;ENST00000507557;ENST00000311638;ENST00000380837;ENST00000508105;ENST00000504190;ENST00000507556;ENST00000507885;ENST00000502620;ENST00000514480	D;D;D;D;D	0.98493	-4.68;-4.43;-4.96;-4.94;-4.43	5.09	2.71	0.32032	Zinc finger, C2CH-type (4);	2.249470	0.01376	N	0.012750	D	0.98124	0.9381	L	0.43152	1.355	0.23501	N	0.997541	D;D;P;B	0.71674	0.995;0.998;0.899;0.006	D;D;B;B	0.68621	0.944;0.959;0.367;0.009	D	0.92046	0.5644	10	0.46703	T	0.11	-3.6379	6.0489	0.19775	0.0:0.1966:0.0:0.8034	.	52;11;52;52	B4E146;D6REL7;Q8TBB0-2;Q8TBB0	.;.;.;THAP6_HUMAN	M	52;11;52;52;11;11;52;11;11;52	ENSP00000422402:I52M;ENSP00000309007:I52M;ENSP00000370217:I52M;ENSP00000427651:I52M;ENSP00000423720:I52M	ENSP00000309007:I52M	I	+	3	3	THAP6	76661081	0.996000	0.38824	1.000000	0.80357	0.923000	0.55619	-0.006000	0.12833	1.028000	0.39785	0.459000	0.35465	ATT		0.363	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		27	90	0	0	0	1	0	27	90				
SPEN	23013	broad.mit.edu	37	1	16256784	16256784	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr1:16256784G>A	ENST00000375759.3	+	11	4253	c.4049G>A	c.(4048-4050)aGa>aAa	p.R1350K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGCTGGCAGATTTGATGTG	0.418																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4048-4050)aGa>aAa		spen family transcriptional repressor							47.0	46.0	46.0					1																	16256784		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256784G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4049G>A	1.37:g.16256784G>A	ENSP00000364912:p.Arg1350Lys						p.R1350K	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4253	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1350					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4049G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855665	0.32791	.	.	ENSG00000065526	ENST00000375759	T	0.11277	2.79	5.02	5.02	0.67125	.	.	.	.	.	T	0.12646	0.0307	L	0.29908	0.895	0.49130	D	0.999756	D	0.63880	0.993	P	0.49752	0.621	T	0.09574	-1.0668	9	0.07990	T	0.79	-18.0451	18.546	0.91047	0.0:0.0:1.0:0.0	.	1350	Q96T58	MINT_HUMAN	K	1350	ENSP00000364912:R1350K	ENSP00000364912:R1350K	R	+	2	0	SPEN	16129371	0.994000	0.37717	1.000000	0.80357	0.601000	0.36947	4.699000	0.61796	2.626000	0.88956	0.557000	0.71058	AGA		0.418	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		24	49	0	0	0	1	0	24	49				
IMPG2	50939	broad.mit.edu	37	3	100962998	100962998	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr3:100962998G>A	ENST00000193391.7	-	13	2364	c.2177C>T	c.(2176-2178)tCt>tTt	p.S726F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	726					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GATTGCTACAGATGTCAGTAT	0.433																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2176-2178)tCt>tTt		interphotoreceptor matrix proteoglycan 2							81.0	69.0	73.0					3																	100962998		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962998G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2177C>T	3.37:g.100962998G>A	ENSP00000193391:p.Ser726Phe						p.S726F	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			13	2364	-			726					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2177C>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	6.909	0.537376	0.13188	.	.	ENSG00000081148	ENST00000193391	T	0.25912	1.77	5.59	4.72	0.59763	.	0.844365	0.10669	N	0.647717	T	0.15003	0.0362	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.004	T	0.19451	-1.0305	10	0.09843	T	0.71	-0.3143	12.8219	0.57698	0.0757:0.0:0.9243:0.0	.	726;726	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	F	726	ENSP00000193391:S726F	ENSP00000193391:S726F	S	-	2	0	IMPG2	102445688	0.736000	0.28164	0.024000	0.17045	0.365000	0.29674	3.791000	0.55469	1.369000	0.46134	0.561000	0.74099	TCT		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			35	70	0	0	0	1	0	35	70				
GLUD2	2747	broad.mit.edu	37	X	120181725	120181725	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:120181725G>A	ENST00000328078.1	+	1	264	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	63					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CCGCGAGGACGACCCCAACTT	0.692																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(187-189)Gac>Aac		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						51.0	49.0	49.0					X																	120181725		2202	4297	6499	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181725G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.187G>A	X.37:g.120181725G>A	ENSP00000327589:p.Asp63Asn						p.D63N	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	264	+			63					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.187G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995171	0.35226	.	.	ENSG00000182890	ENST00000328078	D	0.97016	-4.21	1.47	-2.94	0.05581	.	0.058537	0.64402	N	0.000003	D	0.86744	0.6006	N	0.12182	0.205	0.51012	D	0.999908	B	0.09022	0.002	B	0.08055	0.003	T	0.65038	-0.6265	10	0.27082	T	0.32	.	3.5093	0.07703	0.4078:0.0:0.413:0.1792	.	63	P49448	DHE4_HUMAN	N	63	ENSP00000327589:D63N	ENSP00000327589:D63N	D	+	1	0	GLUD2	120009406	1.000000	0.71417	0.001000	0.08648	0.480000	0.33159	2.583000	0.46094	-1.483000	0.01858	0.372000	0.22366	GAC		0.692	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		61	18	0	0	0	1	0	61	18				
AHNAK	79026	broad.mit.edu	37	11	62259277	62259277	+	Silent	SNP	T	T	C			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr11:62259277T>C	ENST00000257247.7	-	5	604	c.369A>G	c.(367-369)gaA>gaG	p.E123E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_024060.2	NP_076965.2	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	0					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCTTTGCATTCCAGTGCTG	0.468																																						ENST00000257247.7																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(367-369)gaA>gaG		AHNAK nucleoprotein							134.0	133.0	133.0					11																	62259277		2046	4191	6237	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62259277T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000257247.7:c.369A>G	11.37:g.62259277T>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	p.E123E	NM_024060.2	NP_076965.2	Q09666	AHNK_HUMAN			5	604	-		Melanoma(852;0.155)	0					A1A586	Silent	SNP	ENST00000257247.7	37	c.369A>G	CCDS44625.1																																																																																				0.468	AHNAK-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395014.1	NM_024060		7	14	0	0	0	1	0	7	14				
LHX6	26468	broad.mit.edu	37	9	124991011	124991011	+	5'Flank	DEL	C	C	-			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr9:124991011delC	ENST00000373755.2	-	0	0				LHX6_ENST00000394319.4_Frame_Shift_Del_p.W3fs|LHX6_ENST00000541397.2_5'Flank|LHX6_ENST00000559529.1_5'UTR|LHX6_ENST00000340587.3_Frame_Shift_Del_p.W3fs|LHX6_ENST00000373754.2_5'Flank	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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(5)	8						TCTCATGCTTCCAGTACATGG	0.751																																						ENST00000394319.4																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(7-9)tgfs		LIM homeobox 6							3.0	4.0	3.0					9																	124991011		1520	3543	5063	SO:0001631	upstream_gene_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124991011delC	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601		9.37:g.124991011delC	Exception_encountered					LHX6_ENST00000340587.3_Frame_Shift_Del_p.W3fs|LHX6_ENST00000559529.1_5'UTR	p.W3fs	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN			1	113	-			0					A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Frame_Shift_Del	DEL	ENST00000373755.2	37	c.9delG	CCDS56583.1																																																																																				0.751	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		2	4						2	4	---	---	---	---
ORMDL2	29095	broad.mit.edu	37	12	56212928	56212928	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr12:56212928delT	ENST00000243045.5	+	2	340	c.145delT	c.(145-147)tggfs	p.W49fs	ORMDL2_ENST00000550836.1_Intron|SARNP_ENST00000552080.1_5'Flank|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron|SARNP_ENST00000444631.2_5'Flank|SARNP_ENST00000336133.3_5'Flank|ORMDL2_ENST00000548974.1_Frame_Shift_Del_p.W49fs|ORMDL2_ENST00000552672.1_Frame_Shift_Del_p.W15fs	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	49					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						TCCTGTTGTCTGGACCCTGAC	0.488																																						ENST00000243045.5																			0				kidney(1)|lung(3)	4						c.(145-147)ggfs		ORM1-like 2 (S. cerevisiae)							170.0	132.0	145.0					12																	56212928		2203	4300	6503	SO:0001589	frameshift_variant	29095				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr12:56212928delT	AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"""ORM1 (S. cerevisiae)-like 2"", ""ORM1-like 2 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.145delT	12.37:g.56212928delT	ENSP00000243045:p.Trp49fs					ORMDL2_ENST00000548974.1_Frame_Shift_Del_p.W49fs|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000552672.1_Frame_Shift_Del_p.W15fs|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000550836.1_Intron	p.W49fs	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN			2	340	+			49					B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Frame_Shift_Del	DEL	ENST00000243045.5	37	c.145delT	CCDS8893.1																																																																																				0.488	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		47	62						47	62	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546877	3546878	+	5'Flank	INS	-	-	C	rs201831095	byFrequency	TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:3546877_3546878insC	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						tcttttcttttttttttttttt	0.391													|||unknown(HR)	19	0.00379393	0.0	0.0058	5008	,	,		16113	0.0129		0.0	False		,,,				2504	0.002					ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546877_3546878insC		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546877_3546878insC	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.391	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
FBXL19	54620	broad.mit.edu	37	16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr16:30939204delC	ENST00000380310.2	+	5	765	c.607delC	c.(607-609)cccfs	p.P205fs	FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000338343.4_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000471231.2_5'UTR	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	205	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(547-549)ccfs		F-box and leucine-rich repeat protein 19				48,57,2757		3,1,41,8,40,1338	3.0	4.0	4.0			-1.3	0.5	16		4	101,159,6566		9,0,83,24,111,3186	no	codingComplex	FBXL19	NM_001099784.2		12,1,124,32,151,4524	A1A1,A1A2,A1R,A2A2,A2R,RR		3.809,3.6688,3.7675			30939204	149,216,9323	1585	3757	5342	SO:0001589	frameshift_variant	54620						DNA binding|zinc ion binding	g.chr16:30939204delC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.607delC	16.37:g.30939204delC	ENSP00000369666:p.Pro205fs					FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs	p.P185fs			Q6PCT2	FXL19_HUMAN			5	934	+			205					A8MT10|Q8N789|Q9NT14	Frame_Shift_Del	DEL	ENST00000380310.2	37	c.547delC	CCDS45465.1																																																																																				0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		2	4						2	4	---	---	---	---
KLC3	147700	broad.mit.edu	37	19	45851393	45851394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr19:45851393_45851394insT	ENST00000391946.2	+	5	856_857	c.754_755insT	c.(754-756)ctcfs	p.L252fs	KLC3_ENST00000470402.1_Frame_Shift_Ins_p.L266fs|KLC3_ENST00000585434.1_Frame_Shift_Ins_p.L251fs	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	252					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCACCATGCTCAACATCCTG	0.683																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(796-798)caafs		kinesin light chain 3																																				SO:0001589	frameshift_variant	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45851393_45851394insT	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.755dupT	19.37:g.45851394_45851394dupT	ENSP00000375810:p.Leu252fs					KLC3_ENST00000391946.2_Frame_Shift_Ins_p.Q252fs|KLC3_ENST00000585434.1_Frame_Shift_Ins_p.Q251fs	p.Q266fs			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	4	896_897	+		Ovarian(192;0.0728)|all_neural(266;0.112)	252					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Frame_Shift_Ins	INS	ENST00000391946.2	37	c.796_797insT	CCDS12660.2																																																																																				0.683	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		11	10						11	10	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			391267							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			8	211						8	211	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	53						7	53	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115574951	115574951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71E-01A-31D-A34J-08	TCGA-UF-A71E-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea5270a7-5d42-45eb-908f-601fe20a6b64	5395fbc0-613d-4058-8147-dba0db379899	g.chrX:115574951delT	ENST00000371900.4	+	5	737	c.649delT	c.(649-651)tatfs	p.Y217fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	217					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGTGAACAATATTGGAAGTA	0.338																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(649-651)atfs		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						71.0	64.0	67.0					X																	115574951		2203	4299	6502	SO:0001589	frameshift_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115574951delT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.649delT	X.37:g.115574951delT	ENSP00000360967:p.Tyr217fs						p.Y217fs	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			5	737	+			217					Q5H942	Frame_Shift_Del	DEL	ENST00000371900.4	37	c.649delT	CCDS14570.1																																																																																				0.338	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			23	47						23	47	---	---	---	---
