#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
RAMP1	10267	broad.mit.edu	37	2	238785964	238785964	+	Missense_Mutation	SNP	G	G	A	rs372494526		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:238785964G>A	ENST00000254661.4	+	2	283	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	RAMP1_ENST00000409726.1_Missense_Mutation_p.V29I|RAMP1_ENST00000404910.2_Missense_Mutation_p.V29I|RAMP1_ENST00000403885.1_Missense_Mutation_p.V29I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	51					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CATGGAGGCCGTCGGGGAGAC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16055	0.0		0.0	False		,,,				2504	0.001				NSCLC(177;211 2889 43936 50767)	ENST00000254661.4																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(151-153)Gtc>Atc		receptor (G protein-coupled) activity modifying protein 1	Pramlintide(DB01278)	G	ILE/VAL	0,4406		0,0,2203	87.0	83.0	85.0		151	-9.5	0.0	2		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAMP1	NM_005855.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	51/149	238785964	1,13005	2203	4300	6503	SO:0001583	missense	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238785964G>A	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.151G>A	2.37:g.238785964G>A	ENSP00000254661:p.Val51Ile					RAMP1_ENST00000404910.2_Missense_Mutation_p.V29I|RAMP1_ENST00000409726.1_Missense_Mutation_p.V29I|RAMP1_ENST00000403885.1_Missense_Mutation_p.V29I	p.V51I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	2	283	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	51					Q6FGS5	Missense_Mutation	SNP	ENST00000254661.4	37	c.151G>A	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	G	0.346	-0.947541	0.02304	0.0	1.16E-4	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.75	-9.5	0.00584	.	0.854104	0.10304	N	0.690779	T	0.11922	0.0290	N	0.03016	-0.435	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.26430	-1.0103	10	0.07644	T	0.81	-12.3933	8.136	0.31054	0.1715:0.3938:0.4348:0.0	.	51	O60894	RAMP1_HUMAN	I	29;51;29;29	ENSP00000384688:V29I;ENSP00000254661:V51I;ENSP00000386720:V29I;ENSP00000386046:V29I	ENSP00000254661:V51I	V	+	1	0	RAMP1	238450703	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-0.053000	0.11846	-2.113000	0.00833	-0.339000	0.08088	GTC		0.652	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855		4	79	0	0	0	1	0	4	79				
ZNF518A	9849	broad.mit.edu	37	10	97916386	97916386	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:97916386G>A	ENST00000534948.1	+	0	1164							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCATAAGTCTGAGAGAGCTGA	0.363																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							98.0	95.0	96.0					10																	97916386		1837	4096	5933			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916386G>A	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916386G>A										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1164	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.363	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		35	34	0	0	0	1	0	35	34				
DIS3L	115752	broad.mit.edu	37	15	66601094	66601094	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:66601094G>A	ENST00000319212.4	+	4	520	c.470G>A	c.(469-471)aGg>aAg	p.R157K	DIS3L_ENST00000441424.2_Missense_Mutation_p.R23K|DIS3L_ENST00000319194.5_Missense_Mutation_p.R74K	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	157					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCCAGGACAGGATGCCAATT	0.448																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(220-222)aGg>aAg		DIS3 mitotic control homolog (S. cerevisiae)-like							207.0	179.0	189.0					15																	66601094		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66601094G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.470G>A	15.37:g.66601094G>A	ENSP00000321711:p.Arg157Lys					DIS3L_ENST00000441424.2_Missense_Mutation_p.R23K|DIS3L_ENST00000319212.4_Missense_Mutation_p.R157K	p.R74K	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			4	482	+			157					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.221G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	4.850	0.158052	0.09236	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109;ENST00000532580;ENST00000530615	T;T;T;T	0.39787	2.02;1.06;2.02;1.08	5.96	1.5	0.22942	.	0.681915	0.15863	N	0.240925	T	0.11580	0.0282	N	0.01048	-1.04	0.20196	N	0.999926	B;B	0.11235	0.0;0.004	B;B	0.04013	0.001;0.001	T	0.34976	-0.9807	10	0.02654	T	1	-14.3814	7.759	0.28940	0.6087:0.0:0.3913:0.0	.	157;157	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	K	74;23;157;23;74;74	ENSP00000321583:R74K;ENSP00000388980:R23K;ENSP00000321711:R157K;ENSP00000432125:R23K	ENSP00000321583:R74K	R	+	2	0	DIS3L	64388148	0.543000	0.26434	0.451000	0.26982	0.691000	0.40173	0.824000	0.27379	0.243000	0.21327	-0.136000	0.14681	AGG		0.448	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		19	85	0	0	0	1	0	19	85				
C9	735	broad.mit.edu	37	5	39308344	39308344	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:39308344C>G	ENST00000263408.4	-	8	1323	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	410	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTCTACCCTCTCCCCTCTTT	0.428																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1228-1230)Gag>Cag		complement component 9							149.0	140.0	143.0					5																	39308344		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39308344C>G		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1228G>C	5.37:g.39308344C>G	ENSP00000263408:p.Glu410Gln						p.E410Q	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		8	1323	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	410			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1228G>C	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028287	0.08054	.	.	ENSG00000113600	ENST00000263408	D	0.84370	-1.84	4.73	0.617	0.17619	Membrane attack complex component/perforin (MACPF) domain (3);	1.605290	0.03284	N	0.186627	T	0.81456	0.4826	L	0.53249	1.67	0.09310	N	1	B	0.29301	0.241	B	0.33392	0.163	T	0.59059	-0.7525	10	0.18710	T	0.47	-0.0579	5.2134	0.15329	0.0:0.4711:0.2779:0.251	.	410	P02748	CO9_HUMAN	Q	410	ENSP00000263408:E410Q	ENSP00000263408:E410Q	E	-	1	0	C9	39344101	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.560000	0.02160	-0.017000	0.14103	0.585000	0.79938	GAG		0.428	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			30	43	0	0	0	1	0	30	43				
TTC21B	79809	broad.mit.edu	37	2	166786745	166786745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:166786745C>G	ENST00000243344.7	-	9	1161	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	342					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAGTGCCTCTTTAACTCTT	0.358																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1024-1026)Gag>Cag		tetratricopeptide repeat domain 21B							131.0	132.0	131.0					2																	166786745		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166786745C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1024G>C	2.37:g.166786745C>G	ENSP00000243344:p.Glu342Gln						p.E342Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			9	1161	-			342					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1024G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087887	0.76642	.	.	ENSG00000123607	ENST00000243344	T	0.56103	0.48	5.06	5.06	0.68205	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.931	T	0.79931	-0.1595	10	0.59425	D	0.04	-13.6597	18.7961	0.91994	0.0:1.0:0.0:0.0	.	342;342	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	Q	342	ENSP00000243344:E342Q	ENSP00000243344:E342Q	E	-	1	0	TTC21B	166494991	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	7.547000	0.82146	2.510000	0.84645	0.650000	0.86243	GAG		0.358	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		20	47	0	0	0	1	0	20	47				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	28	0	0	0	1	0	3	28				
CEP170	9859	broad.mit.edu	37	1	243349162	243349162	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:243349162G>T	ENST00000366542.1	-	10	1536	c.1485C>A	c.(1483-1485)gaC>gaA	p.D495E	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	495						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTCACTTTGGTCATCATCAT	0.378																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1483-1485)gaC>gaA		centrosomal protein 170kDa							12.0	12.0	12.0					1																	243349162		1705	3865	5570	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243349162G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1485C>A	1.37:g.243349162G>T	ENSP00000355500:p.Asp495Glu					CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	p.D495E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		10	1536	-	all_neural(11;0.101)	all_cancers(173;0.003)	495					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1485C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.510952|3.510952	0.64522|0.64522	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542|ENST00000336415	T|.	0.50813|.	0.73|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69824|0.69824	0.3154|0.3154	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.68565|0.68565	-0.5375|-0.5375	10|5	0.11485|.	T|.	0.65|.	-12.853|-12.853	13.2785|13.2785	0.60200|0.60200	0.0761:0.0:0.9239:0.0|0.0761:0.0:0.9239:0.0	.|.	495|.	Q5SW79|.	CE170_HUMAN|.	E|N	495|459	ENSP00000355500:D495E|.	ENSP00000355500:D495E|.	D|T	-|-	3|2	2|0	CEP170|CEP170	241415785|241415785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.566000|4.566000	0.60843|0.60843	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAC|ACC		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		29	58	1	0	2.85442e-18	1	3.30972e-18	29	58				
VNN2	8875	broad.mit.edu	37	6	133072577	133072577	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:133072577C>T	ENST00000326499.6	-	5	1031	c.907G>A	c.(907-909)Gag>Aag	p.E303K	VNN2_ENST00000525270.1_Missense_Mutation_p.E250K|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	303	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAATCCACCTCTGAAAGGAGA	0.438																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(907-909)Gag>Aag		vanin 2							76.0	75.0	75.0					6																	133072577		2202	4287	6489	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072577C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.907G>A	6.37:g.133072577C>T	ENSP00000322276:p.Glu303Lys					VNN2_ENST00000525270.1_Missense_Mutation_p.E250K|VNN2_ENST00000525289.1_Intron	p.E303K	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	1031	-			303			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.907G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103416	0.37145	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.87887	-2.31;-2.31	5.48	0.521	0.17046	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.261873	0.31450	N	0.007621	T	0.70579	0.3240	M	0.66378	2.025	0.19300	N	0.999977	B	0.31989	0.35	B	0.34722	0.188	T	0.61959	-0.6955	10	0.25106	T	0.35	-5.0156	6.5706	0.22537	0.0:0.6118:0.1193:0.2689	.	303	O95498	VNN2_HUMAN	K	303;250	ENSP00000322276:E303K;ENSP00000436822:E250K	ENSP00000322276:E303K	E	-	1	0	VNN2	133114270	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.224000	0.09164	-0.121000	0.11787	0.609000	0.83330	GAG		0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			12	91	0	0	0	1	0	12	91				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936095A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	51	0	0	0	1	0	5	51				
PPP2R3B	28227	broad.mit.edu	37	X	322205	322205	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:322205C>T	ENST00000390665.3	-	2	463	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	149					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGTGCTCTCGATCTTGCTG	0.652																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(445-447)Gag>Aag		protein phosphatase 2, regulatory subunit B'', beta							252.0	283.0	272.0					X																	322205		2179	4267	6446	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:322205C>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.445G>A	X.37:g.322205C>T	ENSP00000375080:p.Glu149Lys						p.E149K	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			2	463	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	149					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.445G>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454685	0.12283	.	.	ENSG00000167393	ENST00000390665;ENST00000381625	T;T	0.16743	2.32;2.32	1.62	1.62	0.23740	.	0.156429	0.40385	U	0.001120	T	0.13114	0.0318	L	0.56280	1.765	0.09310	N	1	P	0.34462	0.454	B	0.23150	0.044	T	0.15009	-1.0452	10	0.49607	T	0.09	.	8.9681	0.35890	0.0:1.0:0.0:0.0	.	149	Q9Y5P8	P2R3B_HUMAN	K	149;121	ENSP00000375080:E149K;ENSP00000371038:E121K	ENSP00000371038:E121K	E	-	1	0	PPP2R3B	242205	1.000000	0.71417	0.029000	0.17559	0.276000	0.26787	4.885000	0.63142	0.579000	0.29504	0.115000	0.15696	GAG		0.652	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		15	19	0	0	0	1	0	15	19				
CEP131	22994	broad.mit.edu	37	17	79165012	79165012	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:79165012C>T	ENST00000269392.4	-	22	3002	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	AZI1_ENST00000575907.1_Missense_Mutation_p.E883K|AZI1_ENST00000374782.3_Missense_Mutation_p.E880K|AZI1_ENST00000450824.2_Missense_Mutation_p.E916K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		919					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGCCTTCTCACTCTCCTCC	0.642																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2755-2757)Gag>Aag		5-azacytidine induced 1							60.0	62.0	62.0					17																	79165012		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165012C>T																												ENST00000269392.4:c.2755G>A	17.37:g.79165012C>T	ENSP00000269392:p.Glu919Lys					AZI1_ENST00000575907.1_Missense_Mutation_p.E883K|AZI1_ENST00000374782.3_Missense_Mutation_p.E880K|AZI1_ENST00000450824.2_Missense_Mutation_p.E916K	p.E919K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	3002	-	all_neural(118;0.0804)|Melanoma(429;0.242)		919					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2755G>A		.	.	.	.	.	.	.	.	.	.	C	17.34	3.365860	0.61513	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17370	2.28;2.39;2.28	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.66939	2.045	0.53688	D	0.999975	D;D;P;P	0.69078	0.99;0.997;0.946;0.946	P;D;P;P	0.66716	0.886;0.946;0.509;0.509	T	0.07908	-1.0748	10	0.44086	T	0.13	-30.7183	12.3733	0.55265	0.0:0.9185:0.0:0.0815	.	916;919;880;916	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	916;880;919	ENSP00000393583:E916K;ENSP00000363914:E880K;ENSP00000269392:E919K	ENSP00000269392:E919K	E	-	1	0	AZI1	76779607	1.000000	0.71417	0.069000	0.20011	0.112000	0.19704	4.527000	0.60573	1.161000	0.42604	0.591000	0.81541	GAG		0.642	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			11	64	0	0	0	1	0	11	64				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	33	0	0	0	1	0	3	33				
STK33	65975	broad.mit.edu	37	11	8483358	8483358	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:8483358C>G	ENST00000447869.1	-	4	1470	c.552G>C	c.(550-552)acG>acC	p.T184T	STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.T184T|STK33_ENST00000396672.1_Silent_p.T184T|STK33_ENST00000534493.1_Silent_p.T143T|STK33_ENST00000396673.1_Silent_p.T184T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTACCTTTGGCGTTTCAAATA	0.378																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(550-552)acG>acC		serine/threonine kinase 33							187.0	176.0	180.0					11																	8483358		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8483358C>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.552G>C	11.37:g.8483358C>G						STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Silent_p.T143T|STK33_ENST00000396673.1_Silent_p.T184T|STK33_ENST00000396672.1_Silent_p.T184T|STK33_ENST00000315204.1_Silent_p.T184T	p.T184T			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	4	1470	-			184			Protein kinase.		Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.552G>C	CCDS7789.1																																																																																				0.378	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		5	35	0	0	0	1	0	5	35				
MUC16	94025	broad.mit.edu	37	19	9059813	9059813	+	Silent	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9059813C>A	ENST00000397910.4	-	3	27836	c.27633G>T	c.(27631-27633)ctG>ctT	p.L9211L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9213	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGATGGCCAGTATTTCAG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27631-27633)ctG>ctT		mucin 16, cell surface associated							125.0	118.0	120.0					19																	9059813		1972	4158	6130	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059813C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27633G>T	19.37:g.9059813C>A							p.L9211L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27836	-			9213			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27633G>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	56	1	0	2.74837e-29	1	3.22635e-29	4	56				
LILRA2	11027	broad.mit.edu	37	19	55087014	55087014	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:55087014T>C	ENST00000251377.3	+	6	1080	c.947T>C	c.(946-948)aTc>aCc	p.I316T	LILRA2_ENST00000251376.3_Missense_Mutation_p.I316T|LILRA2_ENST00000391738.3_Missense_Mutation_p.I316T|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.I304T|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	316					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GACATCCTGATCACAGGTGAG	0.667																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(946-948)aTc>aCc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							31.0	37.0	35.0					19																	55087014		2198	4288	6486	SO:0001583	missense	11027							g.chr19:55087014T>C	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.947T>C	19.37:g.55087014T>C	ENSP00000251377:p.Ile316Thr					LILRA2_ENST00000391737.1_Missense_Mutation_p.I304T|LILRA2_ENST00000391738.3_Missense_Mutation_p.I316T|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.I316T	p.I316T						GBM - Glioblastoma multiforme(193;0.0963)	6	1080	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.947T>C	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444236	0.43429	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00856	5.61;5.61;5.61;5.61;5.61	2.83	1.71	0.24356	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.924374	0.08775	N	0.895610	T	0.07728	0.0194	H	0.96175	3.78	0.09310	N	1	D;D;D;D	0.63046	0.992;0.988;0.988;0.969	D;D;D;P	0.66979	0.911;0.948;0.948;0.81	T	0.11817	-1.0572	10	0.87932	D	0	.	5.6986	0.17869	0.0:0.0:0.2812:0.7188	.	316;304;316;316	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	T	316;316;316;316;304	ENSP00000388131:I316T;ENSP00000251377:I316T;ENSP00000375618:I316T;ENSP00000251376:I316T;ENSP00000375617:I304T	ENSP00000251376:I316T	I	+	2	0	LILRA2	59778826	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	0.434000	0.21494	0.264000	0.21851	0.411000	0.27672	ATC		0.667	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			5	25	0	0	0	1	0	5	25				
MX1	4599	broad.mit.edu	37	21	42813654	42813654	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr21:42813654A>C	ENST00000398600.2	+	12	1767	c.742A>C	c.(742-744)Aag>Cag	p.K248Q	AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000455164.2_Missense_Mutation_p.K248Q|MX1_ENST00000288383.6_Missense_Mutation_p.K225Q|MX1_ENST00000398598.3_Missense_Mutation_p.K248Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	248	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCTTGACGAAGCCTGATCT	0.557																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(742-744)Aag>Cag		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							149.0	142.0	144.0					21																	42813654		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42813654A>C		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.742A>C	21.37:g.42813654A>C	ENSP00000381601:p.Lys248Gln					MX1_ENST00000455164.2_Missense_Mutation_p.K248Q|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.K248Q|MX1_ENST00000288383.6_Missense_Mutation_p.K225Q	p.K248Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			12	1767	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	248					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.742A>C	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698153	0.88830	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	4.89	4.89	0.63831	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99232	1.0882	10	0.87932	D	0	-67.9179	13.0999	0.59214	1.0:0.0:0.0:0.0	.	248	P20591	MX1_HUMAN	Q	248;248;248;225	ENSP00000381601:K248Q;ENSP00000381599:K248Q;ENSP00000410523:K248Q;ENSP00000288383:K225Q	ENSP00000288383:K225Q	K	+	1	0	MX1	41735524	1.000000	0.71417	0.932000	0.37286	0.960000	0.62799	7.964000	0.87933	2.151000	0.67156	0.533000	0.62120	AAG		0.557	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			30	52	0	0	0	1	0	30	52				
ZNF233	353355	broad.mit.edu	37	19	44768478	44768478	+	5'UTR	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:44768478C>A	ENST00000391958.2	+	0	92				ZNF233_ENST00000334152.1_Missense_Mutation_p.Q92K|ZNF233_ENST00000589522.1_5'UTR|ZNF233_ENST00000592581.1_5'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCTGCCTTCCCAGGACCCTGC	0.478																																						ENST00000334152.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(274-276)Cag>Aag		zinc finger protein 233							91.0	91.0	91.0					19																	44768478		2203	4300	6503	SO:0001623	5_prime_UTR_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44768478C>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.-36C>A	19.37:g.44768478C>A						ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_5'UTR|ZNF233_ENST00000391958.2_5'UTR|ZNF233_ENST00000589522.1_5'UTR	p.Q92K			A6NK53	ZN233_HUMAN			3	274	+		Prostate(69;0.0435)|all_neural(266;0.226)	0					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.274C>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130349	0.21041	.	.	ENSG00000159915	ENST00000334152	T	0.05580	3.42	3.06	0.785	0.18584	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40924	-0.9537	6	0.37606	T	0.19	.	5.6903	0.17825	0.0:0.7322:0.0:0.2678	.	.	.	.	K	92	ENSP00000334957:Q92K	ENSP00000334957:Q92K	Q	+	1	0	ZNF233	49460318	0.002000	0.14202	0.003000	0.11579	0.094000	0.18550	1.047000	0.30367	0.280000	0.22209	0.407000	0.27541	CAG		0.478	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		10	21	1	0	0.010729	1	0.010961	10	21				
NRROS	375387	broad.mit.edu	37	3	196388563	196388563	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:196388563G>C	ENST00000328557.4	+	3	2252	c.2049G>C	c.(2047-2049)aaG>aaC	p.K683N		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	683					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AGGTCATCAAGAGCCGCTGCC	0.557																																						ENST00000328557.4																			0											c.(2047-2049)aaG>aaC		negative regulator of reactive oxygen species							76.0	81.0	79.0					3																	196388563		2203	4293	6496	SO:0001583	missense	375387							g.chr3:196388563G>C	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.2049G>C	3.37:g.196388563G>C	ENSP00000328625:p.Lys683Asn						p.K683N	NM_198565.1	NP_940967.1					3	2252	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.2049G>C	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795692	0.50208	.	.	ENSG00000174004	ENST00000328557	T	0.52526	0.66	5.66	4.79	0.61399	.	0.107658	0.64402	D	0.000011	T	0.62196	0.2408	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.65100	-0.6250	10	0.72032	D	0.01	.	9.0759	0.36522	0.2682:0.0:0.7318:0.0	.	683	Q86YC3	LRC33_HUMAN	N	683	ENSP00000328625:K683N	ENSP00000328625:K683N	K	+	3	2	LRRC33	197872960	.	.	1.000000	0.80357	0.996000	0.88848	.	.	1.533000	0.49186	0.650000	0.86243	AAG		0.557	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		45	115	0	0	0	1	0	45	115				
RBBP4	5928	broad.mit.edu	37	1	33145259	33145259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:33145259G>A	ENST00000373493.5	+	12	1390	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410N|RBBP4_ENST00000544435.1_Missense_Mutation_p.D159N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376N	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	411					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CATTTATAATGATGAAGACCC	0.393																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(1231-1233)Gat>Aat		retinoblastoma binding protein 4							118.0	116.0	117.0					1																	33145259		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33145259G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1231G>A	1.37:g.33145259G>A	ENSP00000362592:p.Asp411Asn					RBBP4_ENST00000544435.1_Missense_Mutation_p.D159N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376N|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410N|RBBP4_ENST00000373485.1_Intron	p.D411N	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			12	1390	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	411					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.1231G>A	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.246024|4.246024	0.80024|0.80024	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000458695|ENST00000482190	T;T;T;T|T	0.71934|0.70516	-0.34;-0.37;-0.61;-0.36|-0.49	5.3|5.3	5.3|5.3	0.74995|0.74995	WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81133|0.81133	0.4759|0.4759	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	P;P|.	0.39535|.	0.549;0.677|.	B;B|.	0.42771|.	0.352;0.397|.	T|T	0.81581|0.81581	-0.0867|-0.0867	10|7	0.42905|0.54805	T|T	0.14|0.06	.|.	18.3208|18.3208	0.90238|0.90238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	410;411|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	N|I	410;411;159;376|150	ENSP00000398242:D410N;ENSP00000362592:D411N;ENSP00000442384:D159N;ENSP00000396057:D376N|ENSP00000436565:M150I	ENSP00000362592:D411N|ENSP00000436565:M150I	D|M	+|+	1|3	0|0	RBBP4|RBBP4	32917846|32917846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.205000|9.205000	0.95048|0.95048	2.646000|2.646000	0.89796|0.89796	0.557000|0.557000	0.71058|0.71058	GAT|ATG		0.393	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		15	27	0	0	0	1	0	15	27				
ALDH3B2	222	broad.mit.edu	37	11	67431210	67431210	+	Missense_Mutation	SNP	C	C	T	rs368400737		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:67431210C>T	ENST00000349015.3	-	9	1334	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R299Q	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	299					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GCTGCTGGTCCGCTCCAGCAT	0.602																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(895-897)cGg>cAg		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)	C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	82.0	69.0	73.0		896,896	1.8	0.1	11		73	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	ALDH3B2	NM_000695.3,NM_001031615.1	43,43	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	299/386,299/386	67431210	1,12987	2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431210C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.896G>A	11.37:g.67431210C>T	ENSP00000255084:p.Arg299Gln					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R299Q	p.R299Q	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			9	1334	-			299					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.896G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	6.349	0.432413	0.12045	0.0	1.16E-4	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.76060	-0.99;-0.99	3.71	1.8	0.24995	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.493990	0.20469	N	0.091735	T	0.57460	0.2055	L	0.33137	0.985	0.19300	N	0.999977	B	0.21688	0.059	B	0.21917	0.037	T	0.39078	-0.9631	10	0.24483	T	0.36	.	5.5467	0.17067	0.1573:0.6601:0.0:0.1826	.	299	P48448	AL3B2_HUMAN	Q	299	ENSP00000431595:R299Q;ENSP00000255084:R299Q	ENSP00000255084:R299Q	R	-	2	0	ALDH3B2	67187786	0.000000	0.05858	0.130000	0.21974	0.247000	0.25773	-0.972000	0.03802	0.352000	0.24053	0.561000	0.74099	CGG		0.602	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		18	18	0	0	0	1	0	18	18				
ZCCHC14	23174	broad.mit.edu	37	16	87454250	87454250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:87454250C>T	ENST00000268616.4	-	5	719	c.502G>A	c.(502-504)Gtg>Atg	p.V168M		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	168							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTCGCTCCACATAAAATGCG	0.562																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(502-504)Gtg>Atg		zinc finger, CCHC domain containing 14							117.0	86.0	96.0					16																	87454250		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87454250C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.502G>A	16.37:g.87454250C>T	ENSP00000268616:p.Val168Met						p.V168M	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	5	719	-			168					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.502G>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602799	0.28534	.	.	ENSG00000140948	ENST00000268616	T	0.70045	-0.45	5.37	1.48	0.22813	Phox homologous domain (2);	0.470570	0.20936	N	0.083009	T	0.46983	0.1421	L	0.36672	1.1	0.25409	N	0.988378	B	0.27229	0.172	B	0.22753	0.041	T	0.31779	-0.9931	10	0.45353	T	0.12	-4.2957	2.1328	0.03754	0.1213:0.4081:0.2815:0.1891	.	168	Q8WYQ9	ZCH14_HUMAN	M	168	ENSP00000268616:V168M	ENSP00000268616:V168M	V	-	1	0	ZCCHC14	86011751	0.074000	0.21230	0.919000	0.36401	0.527000	0.34593	0.213000	0.17521	1.275000	0.44379	0.591000	0.81541	GTG		0.562	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		9	12	0	0	0	1	0	9	12				
SRR	63826	broad.mit.edu	37	17	2218973	2218973	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:2218973G>A	ENST00000344595.5	+	2	437	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	40					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CTAACAGGGCGCAATCTTTTC	0.378																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(118-120)cGc>cAc		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						153.0	141.0	145.0					17																	2218973		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2218973G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.119G>A	17.37:g.2218973G>A	ENSP00000339435:p.Arg40His					SRR_ENST00000576848.1_Intron	p.R40H	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	2	437	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	40					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.119G>A	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703636	0.48412	.	.	ENSG00000167720	ENST00000344595	D	0.96716	-4.1	5.11	5.11	0.69529	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.118100	0.64402	D	0.000019	D	0.93716	0.7992	L	0.39397	1.21	0.54753	D	0.99998	B	0.14438	0.01	B	0.14578	0.011	D	0.90197	0.4254	10	0.32370	T	0.25	-0.3366	17.7008	0.88294	0.0:0.0:1.0:0.0	.	40	Q9GZT4	SRR_HUMAN	H	40	ENSP00000339435:R40H	ENSP00000339435:R40H	R	+	2	0	SRR	2165723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.850000	0.55918	2.652000	0.90054	0.650000	0.86243	CGC		0.378	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		33	35	0	0	0	1	0	33	35				
TACR2	6865	broad.mit.edu	37	10	71175906	71175906	+	Silent	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:71175906G>T	ENST00000373306.4	-	1	717	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	58					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GATGGGCCAGGATGATCCAGA	0.597																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(172-174)atC>atA		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						134.0	99.0	111.0					10																	71175906		2203	4300	6503	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71175906G>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.174C>A	10.37:g.71175906G>T							p.I58I	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			1	717	-			58					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.174C>A	CCDS7293.1																																																																																				0.597	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			17	15	1	0	5.01169e-05	1	5.32141e-05	17	15				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							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)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	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.11098863A>G												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	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	20	0	0	0	1	0	3	20				
PHRF1	57661	broad.mit.edu	37	11	596953	596953	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:596953C>G	ENST00000264555.5	+	7	779	c.651C>G	c.(649-651)ctC>ctG	p.L217L	PHRF1_ENST00000416188.2_Silent_p.L217L|PHRF1_ENST00000413872.2_Silent_p.L216L|PHRF1_ENST00000533464.1_Silent_p.L213L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	217					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCCCCCTCTCCAGGAGGTGC	0.612																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(649-651)ctC>ctG		PHD and ring finger domains 1							102.0	111.0	108.0					11																	596953		2063	4197	6260	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:596953C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.651C>G	11.37:g.596953C>G						PHRF1_ENST00000533464.1_Silent_p.L213L|PHRF1_ENST00000416188.2_Silent_p.L217L|PHRF1_ENST00000413872.2_Silent_p.L216L	p.L217L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			7	779	+			217					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.651C>G																																																																																					0.612	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		5	40	0	0	0	1	0	5	40				
ANKRD30A	91074	broad.mit.edu	37	10	37482118	37482118	+	Missense_Mutation	SNP	C	C	T	rs199848126	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:37482118C>T	ENST00000602533.1	+	27	2477	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P912L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P793L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	849					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGGCTCCCTGCAGAATG	0.269																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2734-2736)cCc>cTc		ankyrin repeat domain 30A							72.0	68.0	69.0					10																	37482118		1788	4060	5848	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37482118C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2378C>T	10.37:g.37482118C>T	ENSP00000473551:p.Pro793Leu					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P793L|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P793L	p.P912L			Q9BXX3	AN30A_HUMAN			33	2834	+			967					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2735C>T		.	.	.	.	.	.	.	.	.	.	.	0.349	-0.946148	0.02304	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05447	3.44;3.44	1.14	0.193	0.15139	.	.	.	.	.	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47315	-0.9127	9	0.19590	T	0.45	.	4.4992	0.11856	0.3806:0.6194:0.0:0.0	.	849	Q9BXX3	AN30A_HUMAN	L	793;912	ENSP00000354432:P793L;ENSP00000363792:P912L	ENSP00000354432:P793L	P	+	2	0	ANKRD30A	37522124	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.959000	0.03853	0.076000	0.16826	-0.530000	0.04314	CCC		0.269	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		14	25	0	0	0	1	0	14	25				
ZMYM4	9202	broad.mit.edu	37	1	35863113	35863113	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:35863113G>C	ENST00000314607.6	+	20	3246	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E967Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1056					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1056*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGATTGCAGAAGATGAAGA	0.363																																						ENST00000314607.6																			1	Substitution - Nonsense(1)	p.E1056*(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3166-3168)Gaa>Caa		zinc finger, MYM-type 4							73.0	72.0	72.0					1																	35863113		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35863113G>C	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3166G>C	1.37:g.35863113G>C	ENSP00000322915:p.Glu1056Gln					ZMYM4_ENST00000373297.2_Missense_Mutation_p.E967Q	p.E1056Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			20	3246	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1056					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3166G>C	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.842294|4.842294	0.91197|0.91197	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.27402|.	1.67;1.72|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73353|0.73353	0.3576|0.3576	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.53745|.	0.962|.	P|.	0.55055|.	0.767|.	T|T	0.69939|0.69939	-0.5009|-0.5009	10|5	0.52906|.	T|.	0.07|.	-17.9801|-17.9801	19.6181|19.6181	0.95643|0.95643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1056|.	Q5VZL5|.	ZMYM4_HUMAN|.	Q|T	1056;967|714	ENSP00000322915:E1056Q;ENSP00000362394:E967Q|.	ENSP00000322915:E1056Q|.	E|R	+|+	1|2	0|0	ZMYM4|ZMYM4	35635700|35635700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.121000|8.121000	0.89582|0.89582	2.639000|2.639000	0.89480|0.89480	0.460000|0.460000	0.39030|0.39030	GAA|AGA		0.363	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	22	0	0	0	1	0	7	22				
SCD5	79966	broad.mit.edu	37	4	83582187	83582187	+	Intron	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:83582187C>T	ENST00000319540.4	-	3	889				SCD5_ENST00000273908.4_Missense_Mutation_p.A205T	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCACACGCTGCCTCTTGATTG	0.418																																						ENST00000273908.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(613-615)Gca>Aca		stearoyl-CoA desaturase 5							229.0	231.0	231.0					4																	83582187		2203	4300	6503	SO:0001627	intron_variant	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83582187C>T	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.569+19672G>A	4.37:g.83582187C>T						SCD5_ENST00000319540.4_Intron	p.A205T	NM_024906.2	NP_079182.2	Q86SK9	SCD5_HUMAN			4	847	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	0					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.613G>A	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952657	0.34471	.	.	ENSG00000145284	ENST00000273908	.	.	.	3.58	2.72	0.32119	.	.	.	.	.	T	0.12220	0.0297	.	.	.	0.09310	N	0.999997	B	0.33612	0.419	B	0.32342	0.144	T	0.18587	-1.0332	7	0.02654	T	1	.	8.3976	0.32566	0.2334:0.7666:0.0:0.0	.	205	Q86SK9-2	.	T	205	.	ENSP00000273908:A205T	A	-	1	0	SCD5	83801211	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.056000	0.11787	1.070000	0.40811	0.306000	0.20318	GCA		0.418	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		8	242	0	0	0	1	0	8	242				
ZFYVE26	23503	broad.mit.edu	37	14	68249617	68249617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68249617C>G	ENST00000347230.4	-	21	4390	c.4252G>C	c.(4252-4254)Gag>Cag	p.E1418Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1418Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1418					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGGATTCCTCAAAAGCCTCA	0.537																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4252-4254)Gag>Cag		zinc finger, FYVE domain containing 26							101.0	102.0	102.0					14																	68249617		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68249617C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4252G>C	14.37:g.68249617C>G	ENSP00000251119:p.Glu1418Gln					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1418Q	p.E1418Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4390	-			1418					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4252G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	0.748	-0.773955	0.02951	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.84;1.71	5.5	-2.22	0.06952	.	0.250540	0.39687	N	0.001287	T	0.14313	0.0346	L	0.41079	1.255	0.27812	N	0.942096	B;B	0.12013	0.005;0.003	B;B	0.14023	0.01;0.003	T	0.30736	-0.9968	10	0.15066	T	0.55	-1.2064	6.1406	0.20257	0.0:0.3917:0.2137:0.3946	.	1418;1418	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Q	1418;1397;1418	ENSP00000251119:E1418Q;ENSP00000450603:E1418Q	ENSP00000251119:E1418Q	E	-	1	0	ZFYVE26	67319370	0.040000	0.19996	0.230000	0.23976	0.055000	0.15305	-0.163000	0.09997	-0.669000	0.05289	-0.794000	0.03295	GAG		0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		23	180	0	0	0	1	0	23	180				
MAPRE2	10982	broad.mit.edu	37	18	32650271	32650271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:32650271G>T	ENST00000300249.5	+	2	415	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.E36*|MAPRE2_ENST00000436190.2_Nonsense_Mutation_p.E67*|MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.E36*|MAPRE2_ENST00000538170.2_Intron	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	79	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAAAAGTGGAACAGCTTTG	0.353																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(199-201)Gaa>Taa		microtubule-associated protein, RP/EB family, member 2							111.0	103.0	106.0					18																	32650271		2203	4300	6503	SO:0001587	stop_gained	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32650271G>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.235G>T	18.37:g.32650271G>T	ENSP00000300249:p.Glu79*					MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000300249.5_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.E36*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.E36*	p.E67*	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			3	473	+			79			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Nonsense_Mutation	SNP	ENST00000300249.5	37	c.199G>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160331	0.98103	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249	.	.	.	5.24	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5528	14.1794	0.65564	0.0737:0.0:0.9263:0.0	.	.	.	.	X	36;67;79	.	ENSP00000300249:E79X	E	+	1	0	MAPRE2	30904269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.926000	0.87569	2.432000	0.82394	0.655000	0.94253	GAA		0.353	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		7	43	1	0	2.0095e-06	1	2.14573e-06	7	43				
TRBC2	28638	broad.mit.edu	37	7	142498864	142498864	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:142498864G>A	ENST00000466254.1	+	0	140							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GCTGGTGGGTGAATGGGAAGG	0.617																																						ENST00000466254.1																			0																				99.0	114.0	109.0					7																	142498864		2165	4258	6423			28638							g.chr7:142498864G>A	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498864G>A														0	140	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.617	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		10	78	0	0	0	1	0	10	78				
JAG2	3714	broad.mit.edu	37	14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	rs9972231	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:105615648C>T	ENST00000331782.3	-	13	2015	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.D500N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	538	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.		D -> N (in dbSNP:rs9972231).		auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622													c|||	601	0.120008	0.0053	0.1268	5008	,	,		11943	0.1687		0.1312	False		,,,				2504	0.2086					ENST00000331782.3																			2	Substitution - Missense(2)	p.D538N(2)	lung(1)|skin(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1612-1614)Gac>Aac		jagged 2			ASN/ASP,ASN/ASP	143,4261	98.9+/-137.6	2,139,2061	68.0	71.0	70.0		1612,1498	3.8	0.0	14	dbSNP_119	70	1119,7481	229.8+/-264.4	82,955,3263	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	23,23	84,1094,5324	TT,TC,CC		13.0116,3.247,9.7047	possibly-damaging,possibly-damaging	538/1239,500/1201	105615648	1262,11742	2202	4300	6502	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615648C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1612G>A	14.37:g.105615648C>T	ENSP00000328169:p.Asp538Asn					JAG2_ENST00000347004.2_Missense_Mutation_p.D500N	p.D538N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	13	2015	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	538		D -> N (in dbSNP:rs9972231).	EGF-like 9.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1612G>A	CCDS9998.1	253	0.11584249084249085	5	0.01016260162601626	44	0.12154696132596685	104	0.18181818181818182	100	0.13192612137203166	C	12.41	1.928193	0.34002	0.03247	0.130116	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.83673	-1.75;-1.75	3.8	3.8	0.43715	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.056989	0.64402	D	0.000002	T	0.00412	0.0013	L	0.49455	1.56	0.21020	P	0.999805715	B;B	0.34147	0.438;0.202	B;B	0.29267	0.1;0.025	T	0.30238	-0.9985	9	0.20519	T	0.43	.	13.511	0.61513	0.0:1.0:0.0:0.0	rs9972231;rs57317492;rs9972231	500;538	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	N	538;500	ENSP00000328169:D538N;ENSP00000328566:D500N	ENSP00000328169:D538N	D	-	1	0	JAG2	104686693	0.269000	0.24143	0.038000	0.18304	0.038000	0.13279	0.959000	0.29240	1.830000	0.53286	0.556000	0.70494	GAC		0.622	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			5	103	0	0	0	1	0	5	103				
ABCB8	11194	broad.mit.edu	37	7	150737591	150737591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:150737591C>T	ENST00000297504.6	+	12	1375	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ABCB8_ENST00000542328.1_Missense_Mutation_p.R332W|ABCB8_ENST00000356058.4_Missense_Mutation_p.P458L|ABCB8_ENST00000498578.1_Missense_Mutation_p.R420W|ABCB8_ENST00000358849.4_Missense_Mutation_p.R420W			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	437	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ACAGGTGGTCCGGGGGCTGAG	0.657																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1258-1260)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 8							49.0	55.0	53.0					7																	150737591		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737591C>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1309C>T	7.37:g.150737591C>T	ENSP00000297504:p.Arg437Trp					ABCB8_ENST00000356058.4_Missense_Mutation_p.P458L|ABCB8_ENST00000542328.1_Missense_Mutation_p.R332W|ABCB8_ENST00000498578.1_Missense_Mutation_p.R420W|ABCB8_ENST00000297504.6_Missense_Mutation_p.R437W	p.R420W	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1351	+			437			ABC transmembrane type-1.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1258C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.95|13.95	2.389218|2.389218	0.42410|0.42410	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000356058|ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D|D;D;D;D	0.83837|0.95001	-1.77|-3.58;-3.58;-3.58;-3.58	4.68|4.68	4.68|4.68	0.58851|0.58851	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96821|0.96821	0.8962|0.8962	M|M	0.75777|0.75777	2.31|2.31	0.40870|0.40870	D|D	0.983905|0.983905	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.997;0.999	D|D	0.97644|0.97644	1.0150|1.0150	7|10	0.08381|0.87932	T|D	0.77|0	-0.0233|-0.0233	15.1554|15.1554	0.72735|0.72735	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|332;420;437;420	.|G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.|.;.;ABCB8_HUMAN;.	L|W	458|420;403;437;332;420	ENSP00000348353:P458L|ENSP00000351717:R420W;ENSP00000297504:R437W;ENSP00000438776:R332W;ENSP00000418271:R420W	ENSP00000348353:P458L|ENSP00000297504:R437W	P|R	+|+	2|1	0|2	ABCB8|ABCB8	150368524|150368524	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.548000|0.548000	0.35241|0.35241	2.580000|2.580000	0.46068|0.46068	2.423000|2.423000	0.82170|0.82170	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.657	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		20	37	0	0	0	1	0	20	37				
VCPIP1	80124	broad.mit.edu	37	8	67578153	67578153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:67578153C>T	ENST00000310421.4	-	1	1299	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	347	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGGAGCTGCTCCATGCAATAC	0.483																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1039-1041)tgG>tgA		valosin containing protein (p97)/p47 complex interacting protein 1							88.0	88.0	88.0					8																	67578153		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578153C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1041G>A	8.37:g.67578153C>T	ENSP00000309031:p.Trp347*						p.W347*	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1299	-		Lung NSC(129;0.142)|all_lung(136;0.227)	347			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.1041G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	38	7.089518	0.98055	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0266	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	347	.	ENSP00000309031:W347X	W	-	3	0	VCPIP1	67740707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.719000	0.93026	0.655000	0.94253	TGG		0.483	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			60	74	0	0	0	1	0	60	74				
HPS5	11234	broad.mit.edu	37	11	18320447	18320447	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:18320447G>A	ENST00000349215.3	-	10	1333	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	HPS5_ENST00000531848.1_Silent_p.L238L|HPS5_ENST00000438420.2_Silent_p.L238L|HPS5_ENST00000396253.3_Silent_p.L238L|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	352					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATATCAGGGAGAGATGTGAGA	0.448									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(712-714)ctC>ctT		Hermansky-Pudlak syndrome 5							152.0	138.0	143.0					11																	18320447		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18320447G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1056C>T	11.37:g.18320447G>A						HPS5_ENST00000531848.1_Silent_p.L238L|HPS5_ENST00000438420.2_Silent_p.L238L|HPS5_ENST00000349215.3_Silent_p.L352L	p.L238L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			9	1176	-			352					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.714C>T	CCDS7836.1																																																																																				0.448	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		22	90	0	0	0	1	0	22	90				
UNC79	57578	broad.mit.edu	37	14	94156509	94156509	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94156509T>C	ENST00000393151.2	+	46	7249	c.7249T>C	c.(7249-7251)Tgg>Cgg	p.W2417R	UNC79_ENST00000256339.4_Missense_Mutation_p.W2240R|UNC79_ENST00000555664.1_Missense_Mutation_p.W2378R|UNC79_ENST00000553484.1_Missense_Mutation_p.W2439R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2417					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGTTGTCCTGGCTGCTGCT	0.488																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7315-7317)Tgg>Cgg		unc-79 homolog (C. elegans)							188.0	162.0	170.0					14																	94156509		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94156509T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7249T>C	14.37:g.94156509T>C	ENSP00000376858:p.Trp2417Arg					UNC79_ENST00000256339.4_Missense_Mutation_p.W2240R|UNC79_ENST00000555664.1_Missense_Mutation_p.W2378R|UNC79_ENST00000393151.2_Missense_Mutation_p.W2417R	p.W2439R			Q9P2D8	UNC79_HUMAN			47	7469	+			2417					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7315T>C		.	.	.	.	.	.	.	.	.	.	T	20.5	4.001131	0.74818	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.65364	-0.13;-0.03;-0.15;-0.12	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81754	-0.0788	10	0.87932	D	0	-12.9692	16.5602	0.84551	0.0:0.0:0.0:1.0	.	2439	C9JQL1	.	R	2240;2378;2439;2417;2439	ENSP00000256339:W2240R;ENSP00000450868:W2378R;ENSP00000451360:W2439R;ENSP00000376858:W2417R	ENSP00000256339:W2240R	W	+	1	0	KIAA1409	93226262	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TGG		0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		17	165	0	0	0	1	0	17	165				
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:23522455G>A	ENST00000296682.3	+	7	733	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(550-552)cGa>cAa		PR domain containing 9							165.0	170.0	168.0					5																	23522455		1931	4157	6088	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522455G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.551G>A	5.37:g.23522455G>A	ENSP00000296682:p.Arg184Gln	HNSCC(3;0.000094)					p.R184Q	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	733	+			184					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.551G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758306	0.69763	.	.	ENSG00000164256	ENST00000296682	T	0.13657	2.57	3.63	3.63	0.41609	SSXRD motif (1);	.	.	.	.	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	0.999999	D	0.71674	0.998	D	0.76575	0.988	T	0.05099	-1.0906	9	0.87932	D	0	-7.7103	11.5487	0.50708	0.0:0.0:1.0:0.0	.	184	Q9NQV7	PRDM9_HUMAN	Q	184	ENSP00000296682:R184Q	ENSP00000296682:R184Q	R	+	2	0	PRDM9	23558212	0.910000	0.30920	0.093000	0.20910	0.011000	0.07611	2.379000	0.44318	1.974000	0.57490	0.531000	0.56144	CGA		0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		23	403	0	0	0	1	0	23	403				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	18	0	0	0	1	0	3	18				
MUC16	94025	broad.mit.edu	37	19	9088537	9088537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9088537G>C	ENST00000397910.4	-	1	3481	c.3278C>G	c.(3277-3279)tCa>tGa	p.S1093*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1093	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGTGCTTGAGCCAGCAGC	0.433																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3277-3279)tCa>tGa		mucin 16, cell surface associated							83.0	80.0	81.0					19																	9088537		2024	4190	6214	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088537G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3278C>G	19.37:g.9088537G>C	ENSP00000381008:p.Ser1093*						p.S1093*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3481	-			1093			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.3278C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	41	9.019851	0.99038	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.51	1.51	0.23008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.4457	0.21875	0.0:0.0:1.0:0.0	.	.	.	.	X	1093	.	ENSP00000381008:S1093X	S	-	2	0	MUC16	8949537	0.776000	0.28616	0.045000	0.18777	0.248000	0.25809	2.001000	0.40825	1.145000	0.42336	0.305000	0.20034	TCA		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	48	0	0	0	1	0	13	48				
FLG	2312	broad.mit.edu	37	1	152277107	152277107	+	Nonsense_Mutation	SNP	G	G	A	rs143418984		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277107G>A	ENST00000368799.1	-	3	10290	c.10255C>T	c.(10255-10257)Cga>Tga	p.R3419*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3419	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10255-10257)Cga>Tga		filaggrin		G	stop/ARG	0,4406		0,0,2203	182.0	197.0	192.0		10255	-4.6	0.0	1	dbSNP_134	192	2,8592	2.2+/-6.3	0,2,4295	no	stop-gained	FLG	NM_002016.1		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		3419/4062	152277107	2,12998	2203	4297	6500	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277107G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10255C>T	1.37:g.152277107G>A	ENSP00000357789:p.Arg3419*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R3419*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10290	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3419			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.10255C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	49	15.549312	0.99837	0.0	2.33E-4	ENSG00000143631	ENST00000368799	.	.	.	3.94	-4.57	0.03421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	7.1638	0.25679	0.0:0.3302:0.3379:0.3319	.	.	.	.	X	3419	.	ENSP00000357789:R3419X	R	-	1	2	FLG	150543731	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.212000	0.00555	-0.555000	0.06142	0.454000	0.30748	CGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		14	369	0	0	0	1	0	14	369				
FUT10	84750	broad.mit.edu	37	8	33230104	33230104	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:33230104G>C	ENST00000327671.5	-	5	2062	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	FUT10_ENST00000518672.1_Missense_Mutation_p.F449L|FUT10_ENST00000524021.1_Missense_Mutation_p.F449L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	477					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATCAGTCCTTGAATACTAGGC	0.373																																						ENST00000327671.5																			0				cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(1429-1431)ttC>ttG		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							58.0	55.0	56.0					8																	33230104		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33230104G>C	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1431C>G	8.37:g.33230104G>C	ENSP00000332757:p.Phe477Leu					FUT10_ENST00000524021.1_Missense_Mutation_p.F449L|FUT10_ENST00000518672.1_Missense_Mutation_p.F449L	p.F477L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	5	2062	-			477					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.1431C>G	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330318	0.41297	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021	T;T;T	0.43688	0.94;0.99;0.99	5.54	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.77616	2.38	0.80722	D	1	P;B;B	0.34864	0.473;0.355;0.349	B;B;B	0.33121	0.056;0.158;0.091	T	0.11421	-1.0588	10	0.29301	T	0.29	-26.4981	7.5493	0.27786	0.3305:0.0:0.6695:0.0	.	527;477;519	B4E056;Q6P4F1;E7EU36	.;FUT10_HUMAN;.	L	477;519;449;449	ENSP00000332757:F477L;ENSP00000430428:F449L;ENSP00000429870:F449L	ENSP00000332757:F477L	F	-	3	2	FUT10	33349646	1.000000	0.71417	0.997000	0.53966	0.731000	0.41821	1.557000	0.36299	0.322000	0.23283	-0.119000	0.15052	TTC		0.373	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		13	9	0	0	0	1	0	13	9				
ZNF132	7691	broad.mit.edu	37	19	58944775	58944775	+	Missense_Mutation	SNP	C	C	T	rs149025551		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:58944775C>T	ENST00000254166.3	-	3	2436	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	679					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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGTCCTTTCTCTGGTGTGAAC	0.448																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(2035-2037)aGa>aAa		zinc finger protein 132							120.0	112.0	114.0					19																	58944775		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58944775C>T	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.2036G>A	19.37:g.58944775C>T	ENSP00000254166:p.Arg679Lys						p.R679K	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	2436	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	679					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.2036G>A	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558532	0.45590	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.15487	2.42	3.05	2.0	0.26442	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.10837	0.055	0.28568	N	0.910787	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	9	0.62326	D	0.03	.	9.1204	0.36784	0.0:0.8842:0.0:0.1158	.	679	P52740	ZN132_HUMAN	K	679;394	ENSP00000254166:R679K	ENSP00000254166:R679K	R	-	2	0	ZNF132	63636587	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	0.634000	0.24614	0.404000	0.25506	0.650000	0.86243	AGA		0.448	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		14	54	0	0	0	1	0	14	54				
DTX4	23220	broad.mit.edu	37	11	58956681	58956681	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:58956681C>T	ENST00000227451.3	+	4	1148	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	DTX4_ENST00000532982.1_Silent_p.L242L|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	348					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGTGTGTCTCACCAGGCCAC	0.552																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1042-1044)ctC>ctT		deltex homolog 4 (Drosophila)							34.0	40.0	38.0					11																	58956681		1936	4139	6075	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58956681C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1044C>T	11.37:g.58956681C>T						DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.L242L	p.L348L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			4	1148	+		all_epithelial(135;0.125)	348					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.1044C>T	CCDS44612.1																																																																																				0.552	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		7	22	0	0	0	1	0	7	22				
MMP14	4323	broad.mit.edu	37	14	23313973	23313973	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:23313973T>G	ENST00000311852.6	+	8	1546	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	429					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AAAGACCTACTTCTTCCGTGG	0.542																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1285-1287)Ttc>Gtc		matrix metallopeptidase 14 (membrane-inserted)							113.0	118.0	117.0					14																	23313973		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313973T>G		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1285T>G	14.37:g.23313973T>G	ENSP00000308208:p.Phe429Val					MMP14_ENST00000548162.1_3'UTR	p.F429V	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	8	1546	+	all_cancers(95;9.47e-05)		429			Hemopexin-like 3.		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.1285T>G	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283813	0.80803	.	.	ENSG00000157227	ENST00000311852	T	0.08193	3.12	5.22	5.22	0.72569	Hemopexin/matrixin (2);	0.106561	0.64402	D	0.000005	T	0.34513	0.0900	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33954	-0.9848	10	0.87932	D	0	.	14.0837	0.64942	0.0:0.0:0.0:1.0	.	429	P50281	MMP14_HUMAN	V	429	ENSP00000308208:F429V	ENSP00000308208:F429V	F	+	1	0	MMP14	22383813	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.880000	0.87243	1.966000	0.57179	0.455000	0.32223	TTC		0.542	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		11	48	0	0	0	1	0	11	48				
ASB2	51676	broad.mit.edu	37	14	94405553	94405553	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405553G>A	ENST00000315988.4	-	6	1862	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ASB2_ENST00000555019.1_Silent_p.F506F|ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	458					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGAGGCATGAGAAGCAGGGCT	0.697																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1516-1518)ttC>ttT		ankyrin repeat and SOCS box containing 2							23.0	24.0	23.0					14																	94405553		2198	4283	6481	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94405553G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1374C>T	14.37:g.94405553G>A						ASB2_ENST00000315988.4_Silent_p.F458F	p.F506F	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	8	1948	-		all_cancers(154;0.13)	458					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.1518C>T	CCDS9915.1																																																																																				0.697	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			5	53	0	0	0	1	0	5	53				
ELAVL2	1993	broad.mit.edu	37	9	23704928	23704928	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:23704928C>G	ENST00000397312.2	-	4	749	c.475G>C	c.(475-477)Gac>Cac	p.D159H	ELAVL2_ENST00000544538.1_Missense_Mutation_p.D159H|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D159H|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D159H|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D188H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	159	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D159N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTGACCTGGTCGACAAGAATA	0.423																																						ENST00000397312.2																			1	Substitution - Missense(1)	p.D159N(1)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(475-477)Gac>Cac		ELAV like neuron-specific RNA binding protein 2							148.0	136.0	140.0					9																	23704928		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23704928C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.475G>C	9.37:g.23704928C>G	ENSP00000380479:p.Asp159His					ELAVL2_ENST00000380110.4_Missense_Mutation_p.D188H|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D159H|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D159H|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D159H	p.D159H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	749	-			159			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.475G>C	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465817	0.84425	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.50001	0.76;2.77;2.77;2.77;0.76;1.83	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.79258	2.445	0.80722	D	1	D;D	0.57899	0.98;0.981	D;P	0.63793	0.918;0.853	T	0.72855	-0.4166	10	0.87932	D	0	.	19.8638	0.96797	0.0:1.0:0.0:0.0	.	159;159	Q12926;Q12926-2	ELAV2_HUMAN;.	H	159;159;159;159;159;187;24;159	ENSP00000223951:D159H;ENSP00000380479:D159H;ENSP00000440998:D159H;ENSP00000369460:D159H;ENSP00000391757:D24H;ENSP00000412602:D159H	ENSP00000223951:D159H	D	-	1	0	ELAVL2	23694928	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.468000	0.80943	2.704000	0.92352	0.655000	0.94253	GAC		0.423	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		13	71	0	0	0	1	0	13	71				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	18	0	0	0	1	0	3	18				
FAM188B	84182	broad.mit.edu	37	7	30880454	30880454	+	Missense_Mutation	SNP	G	G	T	rs528403437		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:30880454G>T	ENST00000265299.6	+	9	1512	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	479										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGCAAAGCCGACTGTGCTCA	0.488																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1435-1437)Gac>Tac		family with sequence similarity 188, member B							78.0	79.0	79.0					7																	30880454		1980	4169	6149	SO:0001583	missense	84182							g.chr7:30880454G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1435G>T	7.37:g.30880454G>T	ENSP00000265299:p.Asp479Tyr					INMT-FAM188B_ENST00000458257.1_3'UTR	p.D479Y	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			9	1512	+			479					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1435G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974835	0.53720	.	.	ENSG00000106125	ENST00000265299	T	0.30981	1.51	5.06	1.44	0.22558	.	0.721236	0.14047	N	0.345011	T	0.34106	0.0886	L	0.39898	1.24	0.09310	N	1	P	0.48503	0.911	P	0.54924	0.764	T	0.10941	-1.0608	10	0.87932	D	0	-6.1337	5.8096	0.18460	0.4401:0.0:0.5599:0.0	.	479	Q4G0A6	F188B_HUMAN	Y	479	ENSP00000265299:D479Y	ENSP00000265299:D479Y	D	+	1	0	FAM188B	30846979	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.035000	0.13797	0.480000	0.27534	-0.291000	0.09656	GAC		0.488	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		10	34	1	0	7.48243e-07	1	8.12747e-07	10	34				
MYH14	79784	broad.mit.edu	37	19	50726572	50726572	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50726572C>T	ENST00000596571.1	+	4	659	c.659C>T	c.(658-660)tCg>tTg	p.S220L	MYH14_ENST00000601313.1_Missense_Mutation_p.S220L|MYH14_ENST00000262269.8_Missense_Mutation_p.S220L|MYH14_ENST00000425460.1_Missense_Mutation_p.S220L|MYH14_ENST00000598205.1_Missense_Mutation_p.S220L|MYH14_ENST00000440075.2_Missense_Mutation_p.S220L|MYH14_ENST00000376970.2_Missense_Mutation_p.S220L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	220	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACGTGGCGTCGTCTCCAAAG	0.622																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(658-660)tCg>tTg		myosin, heavy chain 14, non-muscle							44.0	51.0	49.0					19																	50726572		2167	4286	6453	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50726572C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.659C>T	19.37:g.50726572C>T	ENSP00000472819:p.Ser220Leu					MYH14_ENST00000262269.8_Missense_Mutation_p.S220L|MYH14_ENST00000601313.1_Missense_Mutation_p.S220L|MYH14_ENST00000598205.1_Missense_Mutation_p.S220L|MYH14_ENST00000596571.1_Missense_Mutation_p.S220L|MYH14_ENST00000425460.1_Missense_Mutation_p.S220L|MYH14_ENST00000376970.2_Missense_Mutation_p.S220L	p.S220L			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	5	706	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	220			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.659C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620250	0.66787	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	4.49	4.49	0.54785	Myosin head, motor domain (2);	.	.	.	.	D	0.92909	0.7744	M	0.87328	2.875	0.58432	D	0.999998	P;D;D	0.76494	0.954;0.998;0.999	P;P;P	0.59703	0.49;0.862;0.847	D	0.94000	0.7274	9	0.72032	D	0.01	.	15.0695	0.72024	0.0:1.0:0.0:0.0	.	220;220;220	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	L	220	ENSP00000406273:S220L;ENSP00000366169:S220L;ENSP00000407879:S220L;ENSP00000262269:S220L	ENSP00000262269:S220L	S	+	2	0	MYH14	55418384	1.000000	0.71417	0.096000	0.21009	0.135000	0.20990	5.569000	0.67391	2.508000	0.84585	0.579000	0.79373	TCG		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		2	4	0	0	0	1	0	2	4				
ATP13A5	344905	broad.mit.edu	37	3	193048936	193048936	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:193048936T>G	ENST00000342358.4	-	12	1554	c.1437A>C	c.(1435-1437)caA>caC	p.Q479H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	479						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGAGGTTTATTTGCCCACACA	0.433																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1435-1437)caA>caC		ATPase type 13A5							138.0	125.0	129.0					3																	193048936		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193048936T>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1437A>C	3.37:g.193048936T>G	ENSP00000341942:p.Gln479His						p.Q479H	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	12	1554	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		479					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1437A>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745544	0.69418	.	.	ENSG00000187527	ENST00000342358	T	0.59638	0.25	6.17	-1.65	0.08291	HAD-like domain (1);	0.000000	0.64402	D	0.000002	T	0.68714	0.3031	M	0.70903	2.155	0.33510	D	0.591	D	0.89917	1.0	D	0.70935	0.971	T	0.74957	-0.3487	10	0.72032	D	0.01	-11.8066	11.168	0.48554	0.0:0.4062:0.0:0.5938	.	479	Q4VNC0	AT135_HUMAN	H	479	ENSP00000341942:Q479H	ENSP00000341942:Q479H	Q	-	3	2	ATP13A5	194531630	0.006000	0.16342	0.936000	0.37596	0.977000	0.68977	-0.662000	0.05305	-0.221000	0.09973	-0.899000	0.02877	CAA		0.433	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		47	91	0	0	0	1	0	47	91				
NLRP14	338323	broad.mit.edu	37	11	7079661	7079661	+	Silent	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:7079661A>G	ENST00000299481.4	+	8	2959	c.2613A>G	c.(2611-2613)caA>caG	p.Q871Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	871					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AACATGCACAATGTACTCTGA	0.348																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2611-2613)caA>caG		NLR family, pyrin domain containing 14							171.0	143.0	153.0					11																	7079661		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079661A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2613A>G	11.37:g.7079661A>G							p.Q871Q	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2959	+			871					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2613A>G	CCDS7776.1																																																																																				0.348	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		15	67	0	0	0	1	0	15	67				
OR5T1	390155	broad.mit.edu	37	11	56043898	56043898	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:56043898A>G	ENST00000313033.2	+	1	870	c.784A>G	c.(784-786)Att>Gtt	p.I262V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGAGTGACAATTTATCATGG	0.418																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(784-786)Att>Gtt		olfactory receptor, family 5, subfamily T, member 1							236.0	205.0	216.0					11																	56043898		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043898A>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.784A>G	11.37:g.56043898A>G	ENSP00000323612:p.Ile262Val						p.I262V	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	870	+	Esophageal squamous(21;0.00448)		262					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.784A>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248467	0.22880	.	.	ENSG00000181698	ENST00000313033	T	0.00107	8.72	3.48	-2.15	0.07102	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000197	T	0.00144	0.0004	L	0.55213	1.73	0.09310	N	1	B	0.17038	0.02	B	0.22880	0.042	T	0.40683	-0.9550	10	0.42905	T	0.14	.	5.76	0.18195	0.2447:0.3241:0.4312:0.0	.	262	Q8NG75	OR5T1_HUMAN	V	262	ENSP00000323612:I262V	ENSP00000323612:I262V	I	+	1	0	OR5T1	55800474	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-1.028000	0.03589	-0.253000	0.09514	0.381000	0.24937	ATT		0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		33	185	0	0	0	1	0	33	185				
BCS1L	617	broad.mit.edu	37	2	219527643	219527643	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219527643C>T	ENST00000431802.1	+	7	1626	c.927C>T	c.(925-927)ttC>ttT	p.F309F	BCS1L_ENST00000412366.1_Silent_p.F309F|BCS1L_ENST00000359273.3_Silent_p.F309F|BCS1L_ENST00000392109.1_Silent_p.F309F|BCS1L_ENST00000392111.2_Silent_p.F309F|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Silent_p.F309F|BCS1L_ENST00000392110.2_Silent_p.F309F			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	309					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCACCTTCAGTGGACTGC	0.537																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(925-927)ttC>ttT		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							144.0	130.0	135.0					2																	219527643		2203	4300	6503	SO:0001819	synonymous_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527643C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.927C>T	2.37:g.219527643C>T						BCS1L_ENST00000392109.1_Silent_p.F309F|BCS1L_ENST00000392110.2_Silent_p.F309F|BCS1L_ENST00000359273.3_Silent_p.F309F|BCS1L_ENST00000439945.1_Silent_p.F309F|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392111.2_Silent_p.F309F|BCS1L_ENST00000412366.1_Silent_p.F309F	p.F309F			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1626	+		Renal(207;0.0474)	309					B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	37	c.927C>T	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.772|9.772	1.172898|1.172898	0.21704|0.21704	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000426649|ENST00000436603	.|.	.|.	.|.	4.94|4.94	1.81|1.81	0.25067|0.25067	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61073	.|0.2318	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55829	.|-0.8079	.|4	.|.	.|.	.|.	-16.5807|-16.5807	11.4283|11.4283	0.50025|0.50025	0.0:0.822:0.0:0.178|0.0:0.822:0.0:0.178	.|.	.|.	.|.	.|.	X|L	91|91	.|.	.|.	Q|S	+|+	1|2	0|0	BCS1L|BCS1L	219235887|219235887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.472000|1.472000	0.35376|0.35376	0.227000|0.227000	0.20999|0.20999	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		30	70	0	0	0	1	0	30	70				
HHIP	64399	broad.mit.edu	37	4	145627831	145627831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:145627831C>T	ENST00000296575.3	+	5	1635	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	327					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TACACAGTATCCAGGTATCAC	0.368																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(979-981)tCc>tTc		hedgehog interacting protein							78.0	69.0	72.0					4																	145627831		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145627831C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.980C>T	4.37:g.145627831C>T	ENSP00000296575:p.Ser327Phe						p.S327F	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	5	1635	+	all_hematologic(180;0.151)		327					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.980C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319557	0.81469	.	.	ENSG00000164161	ENST00000296575	T	0.11930	2.73	5.87	5.87	0.94306	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03493	-1.1031	10	0.87932	D	0	-20.7508	20.2087	0.98285	0.0:1.0:0.0:0.0	.	327	Q96QV1	HHIP_HUMAN	F	327	ENSP00000296575:S327F	ENSP00000296575:S327F	S	+	2	0	HHIP	145847281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.777000	0.85628	2.783000	0.95769	0.655000	0.94253	TCC		0.368	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			9	23	0	0	0	1	0	9	23				
BRIP1	83990	broad.mit.edu	37	17	59857704	59857704	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:59857704G>C	ENST00000259008.2	-	13	2120	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*	BRIP1_ENST00000583837.1_5'Flank|BRIP1_ENST00000577598.1_Nonsense_Mutation_p.S618*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	618					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCATTGGTGATAATGTACC	0.303			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1852-1854)tCa>tGa	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							88.0	91.0	90.0					17																	59857704		2203	4300	6503	SO:0001587	stop_gained	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59857704G>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1853C>G	17.37:g.59857704G>C	ENSP00000259008:p.Ser618*					BRIP1_ENST00000577598.1_Nonsense_Mutation_p.S618*	p.S618*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			13	2120	-			618					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000259008.2	37	c.1853C>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	43	10.148609	0.99346	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0151	18.2928	0.90136	0.0:0.0:1.0:0.0	.	.	.	.	X	618	.	.	S	-	2	0	BRIP1	57212486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.804000	0.91921	2.571000	0.86741	0.655000	0.94253	TCA		0.303	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		15	40	0	0	0	1	0	15	40				
NAMPT	10135	broad.mit.edu	37	7	105891639	105891639	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:105891639C>T	ENST00000222553.3	-	11	1673	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	456					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAGAAGATCCTGCATAAAT	0.333																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e11-1		nicotinamide phosphoribosyltransferase							96.0	88.0	91.0					7																	105891639		2203	4298	6501	SO:0001630	splice_region_variant	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105891639C>T	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1366-1G>A	7.37:g.105891639C>T							p.D456_splice	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			11	1673	-			456					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Splice_Site	SNP	ENST00000222553.3	37	c.1365_splice	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795086	0.31777	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.72	5.72	0.89469	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.39245	1.2	0.80722	D	1	B	0.18310	0.027	B	0.25759	0.063	T	0.50406	-0.8832	9	0.19590	T	0.45	-7.8037	19.8753	0.96867	0.0:1.0:0.0:0.0	.	456	P43490	NAMPT_HUMAN	N	456	.	ENSP00000222553:D456N	D	-	1	0	NAMPT	105678875	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	6.560000	0.73950	2.711000	0.92665	0.655000	0.94253	GAT		0.333	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790	Missense_Mutation	70	66	0	0	0	1	0	70	66				
CPSF1	29894	broad.mit.edu	37	8	145619370	145619370	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:145619370C>T	ENST00000349769.3	-	34	3911	c.3817G>A	c.(3817-3819)Gac>Aac	p.D1273N	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1273					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGGTCGCGGTCAGACACTGGG	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3817-3819)Gac>Aac		cleavage and polyadenylation specific factor 1, 160kDa							31.0	33.0	32.0					8																	145619370		2200	4298	6498	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145619370C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3817G>A	8.37:g.145619370C>T	ENSP00000339353:p.Asp1273Asn					CPSF1_ENST00000531727.1_5'UTR|MIR939_ENST00000401314.1_RNA	p.D1273N	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		34	3911	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1273					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3817G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987142	0.93106	.	.	ENSG00000071894	ENST00000349769	T	0.75260	-0.92	5.36	5.36	0.76844	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92228	0.5790	10	0.87932	D	0	-44.3052	16.5668	0.84600	0.0:1.0:0.0:0.0	.	1273	Q10570	CPSF1_HUMAN	N	1273	ENSP00000339353:D1273N	ENSP00000339353:D1273N	D	-	1	0	CPSF1	145590178	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.975000	0.76128	2.514000	0.84764	0.555000	0.69702	GAC		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		5	36	0	0	0	1	0	5	36				
FAM171B	165215	broad.mit.edu	37	2	187604984	187604984	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:187604984A>T	ENST00000304698.5	+	2	471	c.268A>T	c.(268-270)Aat>Tat	p.N90Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	90						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCCAGGTGAATGACATCAT	0.388																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(268-270)Aat>Tat		family with sequence similarity 171, member B							88.0	77.0	81.0					2																	187604984		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187604984A>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.268A>T	2.37:g.187604984A>T	ENSP00000304108:p.Asn90Tyr						p.N90Y	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			2	471	+			90					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.268A>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384856	0.61956	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.28454	1.61	6.16	6.16	0.99307	.	0.220091	0.46145	D	0.000310	T	0.35393	0.0930	N	0.20530	0.585	0.41757	D	0.989693	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.09465	-1.0673	10	0.02654	T	1	-27.9818	15.3771	0.74615	1.0:0.0:0.0:0.0	.	90;91	Q6P995;A8K122	F171B_HUMAN;.	Y	90	ENSP00000304108:N90Y	ENSP00000272804:N90Y	N	+	1	0	FAM171B	187313229	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.572000	0.74005	2.367000	0.80283	0.528000	0.53228	AAT		0.388	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		18	68	0	0	0	1	0	18	68				
PCDH11Y	83259	broad.mit.edu	37	Y	5605924	5605924	+	Missense_Mutation	SNP	C	C	T	rs199821889		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrY:5605924C>T	ENST00000215473.6	+	6	3964	c.3964C>T	c.(3964-3966)Cgc>Tgc	p.R1322C				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1322					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTCGCTCCACGCCAACAGGC	0.408																																						ENST00000215473.6																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3964-3966)Cgc>Tgc		protocadherin 11 Y-linked		C	CYS/ARG	6,565		6,565	77.0	75.0	75.0		3964	-1.4	0.3	Y		75	24,1848		24,1848	no	missense	PCDH11Y	NM_032973.1	180	30,2413	T,C		1.2821,1.0508,1.228	probably-damaging	1322/1341	5605924	30,2413	865	2260	3125	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605924C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3964C>T	Y.37:g.5605924C>T	ENSP00000215473:p.Arg1322Cys						p.R1322C			Q9BZA8	PC11Y_HUMAN			6	3964	+			1322					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3964C>T																																																																																					0.408	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		3	31	0	0	0	1	0	3	31				
WEE2	494551	broad.mit.edu	37	7	141414206	141414206	+	Splice_Site	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:141414206G>T	ENST00000397541.2	+	2	945		c.e2+1		WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGGAGATCTGTAAGTGCTCT	0.368																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.e2+1		WEE1 homolog 2 (S. pombe)							47.0	44.0	45.0					7																	141414206		1837	4090	5927	SO:0001630	splice_region_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141414206G>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.539+1G>T	7.37:g.141414206G>T						WEE2-AS1_ENST00000488785.1_RNA		NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			2	945	+	Melanoma(164;0.0171)								Splice_Site	SNP	ENST00000397541.2	37		CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704180	0.68615	.	.	ENSG00000214102	ENST00000397541	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6233	0.91328	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WEE2	141060675	1.000000	0.71417	0.976000	0.42696	0.880000	0.50808	6.182000	0.71995	2.631000	0.89168	0.460000	0.39030	.		0.368	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	Intron	6	40	1	0	5.9392e-07	1	6.48849e-07	6	40				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		11	18	0	0	0	1	0	11	18				
FLG	2312	broad.mit.edu	37	1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T	rs556196419	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567									Ichthyosis				C|||	2	0.000399361	0.0015	0.0	5008	,	,		31472	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8524-8526)cGt>cAt		filaggrin							339.0	507.0	451.0					1																	152278837		2160	4299	6459	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278837C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8525G>A	1.37:g.152278837C>T	ENSP00000357789:p.Arg2842His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2842H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8560	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2842			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8525G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759119	0.15846	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01705	4.68	2.05	-4.1	0.03940	.	.	.	.	.	T	0.00580	0.0019	L	0.49350	1.555	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	9	0.49607	T	0.09	1.9419	3.9477	0.09355	0.0:0.2517:0.3008:0.4476	.	2842	P20930	FILA_HUMAN	H	2842;104	ENSP00000357789:R2842H	ENSP00000357786:R104H	R	-	2	0	FLG	150545461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.898000	0.00705	-1.535000	0.01740	-0.699000	0.03677	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		71	833	0	0	0	1	0	71	833				
OR6A2	8590	broad.mit.edu	37	11	6816739	6816739	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:6816739C>A	ENST00000332601.3	-	1	389	c.201G>T	c.(199-201)atG>atT	p.M67I		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	67					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGAAAGGACATATTAGCTA	0.438																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(199-201)atG>atT		olfactory receptor, family 6, subfamily A, member 2							157.0	145.0	149.0					11																	6816739		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816739C>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.201G>T	11.37:g.6816739C>A	ENSP00000330384:p.Met67Ile						p.M67I	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	389	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	67					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.201G>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545905	0.65198	.	.	ENSG00000184933	ENST00000332601	T	0.00479	7.12	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.237149	0.28706	N	0.014406	T	0.00468	0.0015	L	0.38838	1.175	0.49582	D	0.999801	B	0.29612	0.251	B	0.30943	0.122	T	0.79981	-0.1574	10	0.87932	D	0	.	16.0847	0.81038	0.0:1.0:0.0:0.0	.	67	O95222	OR6A2_HUMAN	I	67	ENSP00000330384:M67I	ENSP00000330384:M67I	M	-	3	0	OR6A2	6773315	0.827000	0.29292	1.000000	0.80357	0.978000	0.69477	0.709000	0.25734	2.741000	0.93983	0.655000	0.94253	ATG		0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		14	51	1	0	7.93312e-07	1	8.56777e-07	14	51				
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:102292767C>T	ENST00000561463.1	+	0	813									DNM1 pseudogene 47																		CACAGCGGCGCGACGAGATGC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292767C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292767C>T														0	813	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	22	0	0	0	1	0	3	22				
ACOT11	26027	broad.mit.edu	37	1	55072843	55072843	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:55072843C>T	ENST00000371316.3	+	14	1489	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.D469D	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	469	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ACGAGGACGACGCCATCTACC	0.632																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1405-1407)gaC>gaT		acyl-CoA thioesterase 11							118.0	82.0	94.0					1																	55072843		2203	4300	6503	SO:0001819	synonymous_variant	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55072843C>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1407C>T	1.37:g.55072843C>T						ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.D469D	p.D469D	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			14	1489	+			469			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	ENST00000371316.3	37	c.1407C>T	CCDS592.1																																																																																				0.632	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		5	19	0	0	0	1	0	5	19				
GOLGA8I	283796	broad.mit.edu	37	15	23261950	23261950	+	Silent	SNP	A	A	G	rs11857654	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:23261950A>G	ENST00000450802.3	+	12	1160	c.1062A>G	c.(1060-1062)gaA>gaG	p.E354E	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	354						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											GGAAGCAGGAAGAGAGGATTC	0.597													.|||	4238	0.846246	0.8707	0.7795	5008	,	,		10506	0.998		0.6362	False		,,,				2504	0.9202					ENST00000450802.3																			0											c.(1060-1062)gaA>gaG																																						SO:0001819	synonymous_variant	283796							g.chr15:23261950A>G	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.1062A>G	15.37:g.23261950A>G							p.E354E							12	1160	+									Silent	SNP	ENST00000450802.3	37	c.1062A>G																																																																																					0.597	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		4	34	0	0	0	1	0	4	34				
CFHR2	3080	broad.mit.edu	37	1	196927140	196927140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:196927140C>T	ENST00000367415.5	+	4	650	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	CFHR2_ENST00000367421.3_Missense_Mutation_p.L184F|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.L168F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CTTGTATCAACTTGAGGGTAA	0.398																																						ENST00000367415.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(550-552)Ctt>Ttt		complement factor H-related 2							177.0	160.0	166.0					1																	196927140		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196927140C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.550C>T	1.37:g.196927140C>T	ENSP00000356385:p.Leu184Phe					CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.L184F	p.L184F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			4	664	+			184			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.550C>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.892439	0.52121	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.70749	-0.51;-0.51	4.01	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.27491	N	0.019122	D	0.86012	0.5831	H	0.94542	3.55	0.09310	N	1	P;D	0.59767	0.881;0.986	P;P	0.60117	0.838;0.869	T	0.80650	-0.1288	10	0.87932	D	0	.	13.6204	0.62134	0.0:1.0:0.0:0.0	.	157;184	P36980-2;P36980	.;FHR2_HUMAN	F	184	ENSP00000356391:L184F;ENSP00000356385:L184F	ENSP00000356385:L184F	L	+	1	0	CFHR2	195193763	0.011000	0.17503	0.015000	0.15790	0.011000	0.07611	0.160000	0.16462	1.760000	0.52011	0.514000	0.50259	CTT		0.398	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		10	88	0	0	0	1	0	10	88				
C4A	720	broad.mit.edu	37	6	31964273	31964273	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:31964273A>T	ENST00000428956.2	+	28	3656	c.3572A>T	c.(3571-3573)cAc>cTc	p.H1191L	C4A_ENST00000498271.1_Missense_Mutation_p.H1191L	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1191					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGGGTGCCCACGCAGCTGCC	0.592																																						ENST00000428956.2																			0											c.(3571-3573)cAc>cTc		complement component 4A (Rodgers blood group)							64.0	77.0	73.0					6																	31964273		1553	3533	5086	SO:0001583	missense	720							g.chr6:31964273A>T	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3572A>T	6.37:g.31964273A>T	ENSP00000396688:p.His1191Leu					C4A_ENST00000498271.1_Missense_Mutation_p.H1191L	p.H1191L	NM_007293.2	NP_009224.2					28	3656	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3572A>T	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	a	10.90	1.481909	0.26598	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.32272	1.46;1.46	3.53	3.53	0.40419	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.462640	0.23481	N	0.047704	T	0.15003	0.0362	L	0.49778	1.585	0.80722	D	1	B;B	0.21452	0.056;0.056	B;B	0.25405	0.06;0.038	T	0.07424	-1.0773	10	0.72032	D	0.01	.	8.7524	0.34626	1.0:0.0:0.0:0.0	.	1191;1191	A6H8M8;P0C0L4	.;CO4A_HUMAN	L	1191	ENSP00000396688:H1191L;ENSP00000420212:H1191L	ENSP00000396688:H1191L	H	+	2	0	C4A	32072252	0.185000	0.23213	0.746000	0.31095	0.404000	0.30871	3.225000	0.51246	1.366000	0.46076	0.347000	0.21830	CAC		0.592	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		9	112	0	0	0	1	0	9	112				
CCDC87	55231	broad.mit.edu	37	11	66359152	66359152	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:66359152G>A	ENST00000333861.3	-	1	1402	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	445					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACCCGTACGGCAGCCGCCT	0.547																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1333-1335)gcC>gcT		coiled-coil domain containing 87							45.0	51.0	49.0					11																	66359152		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359152G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1335C>T	11.37:g.66359152G>A							p.A445A	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1402	-			445					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1335C>T	CCDS8145.1																																																																																				0.547	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		29	103	0	0	0	1	0	29	103				
CYLC2	1539	broad.mit.edu	37	9	105767861	105767861	+	Missense_Mutation	SNP	G	G	C	rs532036391		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:105767861G>C	ENST00000374798.3	+	5	1018	c.948G>C	c.(946-948)aaG>aaC	p.K316N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K316N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	316	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTGATTcaaagaaggatgcaa	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19509	0.0		0.0	False		,,,				2504	0.0					ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(946-948)aaG>aaC		cylicin, basic protein of sperm head cytoskeleton 2							50.0	50.0	50.0					9																	105767861		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767861G>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.948G>C	9.37:g.105767861G>C	ENSP00000420256:p.Lys316Asn					CYLC2_ENST00000487798.1_Missense_Mutation_p.K316N	p.K316N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			5	1018	+		all_hematologic(171;0.125)	316			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.948G>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478283	0.26511	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.20332	2.08;2.08	4.3	-2.29	0.06805	.	2.486670	0.01773	N	0.031313	T	0.25494	0.0620	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.54210	0.745	T	0.30475	-0.9977	10	0.32370	T	0.25	16.0413	8.8394	0.35133	0.6318:0.0:0.3682:0.0	.	316	Q14093	CYLC2_HUMAN	N	316	ENSP00000420256:K316N;ENSP00000417674:K316N	ENSP00000420256:K316N	K	+	3	2	CYLC2	104807682	0.781000	0.28676	0.000000	0.03702	0.114000	0.19823	0.614000	0.24314	-0.607000	0.05738	-0.237000	0.12165	AAG		0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		17	19	0	0	0	1	0	17	19				
PBDC1	51260	broad.mit.edu	37	X	75397552	75397552	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:75397552G>A	ENST00000373358.3	+	6	714	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	PBDC1_ENST00000373357.3_Silent_p.E133E	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	171																	agagaaaggagtcaacaatgg	0.438																																						ENST00000373358.3																			0											c.(511-513)Gtc>Atc		polysaccharide biosynthesis domain containing 1							93.0	85.0	88.0					X																	75397552		2203	4300	6503	SO:0001583	missense	51260							g.chrX:75397552G>A	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.511G>A	X.37:g.75397552G>A	ENSP00000362456:p.Val171Ile					PBDC1_ENST00000373357.3_Silent_p.E133E	p.V171I	NM_016500.3	NP_057584.2					6	714	+									Missense_Mutation	SNP	ENST00000373358.3	37	c.511G>A	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026045	0.35701	.	.	ENSG00000102390	ENST00000373358	.	.	.	5.64	2.87	0.33458	.	2.670170	0.00899	N	0.002331	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	9	0.39692	T	0.17	1.601	4.5379	0.12043	0.189:0.0:0.6346:0.1764	.	171	Q9BVG4	CX026_HUMAN	I	171	.	ENSP00000362456:V171I	V	+	1	0	CXorf26	75313955	0.315000	0.24571	0.002000	0.10522	0.110000	0.19582	0.770000	0.26618	0.244000	0.21351	0.597000	0.82753	GTC		0.438	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		31	21	0	0	0	1	0	31	21				
LRRC4C	57689	broad.mit.edu	37	11	40136786	40136786	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:40136786C>A	ENST00000278198.2	-	2	3020	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	353	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCACCGGAGCATAGCATGTG	0.542																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1057-1059)Gct>Tct		leucine rich repeat containing 4C							87.0	74.0	78.0					11																	40136786		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136786C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1057G>T	11.37:g.40136786C>A	ENSP00000278198:p.Ala353Ser					LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353S	p.A353S			Q9HCJ2	LRC4C_HUMAN			2	3020	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	353			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1057G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064024	0.36373	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.64997	1.995	0.58432	D	0.999999	B	0.29646	0.253	B	0.34038	0.174	T	0.09751	-1.0660	10	0.36615	T	0.2	.	18.9424	0.92610	0.0:1.0:0.0:0.0	.	353	Q9HCJ2	LRC4C_HUMAN	S	353	ENSP00000278198:A353S;ENSP00000436976:A353S;ENSP00000437132:A353S;ENSP00000434761:A353S	ENSP00000278198:A353S	A	-	1	0	LRRC4C	40093362	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.938000	0.70170	2.728000	0.93425	0.650000	0.86243	GCT		0.542	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		17	60	1	0	0.000566183	1	0.000591208	17	60				
AHDC1	27245	broad.mit.edu	37	1	27876247	27876247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:27876247G>A	ENST00000247087.5	-	5	2976	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	AHDC1_ENST00000374011.2_Nonsense_Mutation_p.Q794*			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	794	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGGTCCCCTGAAACCCACAG	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2380-2382)Cag>Tag		AT hook, DNA binding motif, containing 1							39.0	45.0	43.0					1																	27876247		2203	4295	6498	SO:0001587	stop_gained	27245						DNA binding	g.chr1:27876247G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2380C>T	1.37:g.27876247G>A	ENSP00000247087:p.Gln794*					AHDC1_ENST00000247087.5_Nonsense_Mutation_p.Q794*|AHDC1_ENST00000482400.2_Intron	p.Q794*	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3348	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	794			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Nonsense_Mutation	SNP	ENST00000247087.5	37	c.2380C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	45	11.467667	0.99565	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.5606	19.0137	0.92884	0.0:0.0:1.0:0.0	.	.	.	.	X	794	.	ENSP00000247087:Q794X	Q	-	1	0	AHDC1	27748834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.574000	0.90763	2.782000	0.95742	0.655000	0.94253	CAG		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			19	69	0	0	0	1	0	19	69				
AXDND1	126859	broad.mit.edu	37	1	179460836	179460836	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:179460836C>A	ENST00000367618.3	+	19	2642	c.2255C>A	c.(2254-2256)aCa>aAa	p.T752K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	752										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATTGAACTGACAAGGAAGTTG	0.413																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2254-2256)aCa>aAa		axonemal dynein light chain domain containing 1							165.0	158.0	161.0					1																	179460836		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179460836C>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2255C>A	1.37:g.179460836C>A	ENSP00000356590:p.Thr752Lys						p.T752K	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			19	2642	+			752					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2255C>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145162	0.21288	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.26957	1.7;1.7	5.5	3.57	0.40892	.	0.614758	0.16446	N	0.214067	T	0.18299	0.0439	L	0.36672	1.1	0.58432	D	0.999994	B;B	0.29432	0.148;0.244	B;B	0.22152	0.038;0.038	T	0.03728	-1.1009	10	0.32370	T	0.25	-0.0181	9.1385	0.36888	0.0:0.8261:0.0:0.1739	.	710;752	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	K	752;710;686	ENSP00000356590:T752K;ENSP00000391716:T686K	ENSP00000353471:T710K	T	+	2	0	AXDND1	177727459	0.007000	0.16637	0.382000	0.26119	0.233000	0.25261	-0.023000	0.12456	0.641000	0.30601	0.591000	0.81541	ACA		0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		13	72	1	0	1.61879e-10	1	1.83205e-10	13	72				
FRY	10129	broad.mit.edu	37	13	32868533	32868533	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:32868533A>T	ENST00000380250.3	+	60	9105	c.8609A>T	c.(8608-8610)gAc>gTc	p.D2870V	FRY_ENST00000380217.1_Missense_Mutation_p.D52V|FRY_ENST00000542859.1_Missense_Mutation_p.D240V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2870						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACTGAGTGACCTAAAGAAA	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8608-8610)gAc>gTc		furry homolog (Drosophila)							48.0	48.0	48.0					13																	32868533		1919	4136	6055	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32868533A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8609A>T	13.37:g.32868533A>T	ENSP00000369600:p.Asp2870Val					FRY_ENST00000380217.1_Missense_Mutation_p.D52V|FRY_ENST00000542859.1_Missense_Mutation_p.D240V	p.D2870V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	60	9105	+		Lung SC(185;0.0271)	2870					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8609A>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.476848	0.84640	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.23147	1.92	5.51	5.51	0.81932	.	0.108387	0.64402	D	0.000012	T	0.23965	0.0580	L	0.39633	1.23	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.02156	-1.1204	10	0.36615	T	0.2	.	15.6238	0.76833	1.0:0.0:0.0:0.0	.	2870	Q5TBA9	FRY_HUMAN	V	2870;240;52	ENSP00000369600:D2870V	ENSP00000369565:D52V	D	+	2	0	FRY	31766533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.219000	0.95173	2.100000	0.63781	0.533000	0.62120	GAC		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		17	24	0	0	0	1	0	17	24				
FLT4	2324	broad.mit.edu	37	5	180046339	180046339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:180046339G>A	ENST00000261937.6	-	19	2753	c.2675C>T	c.(2674-2676)gCg>gTg	p.A892V	FLT4_ENST00000393347.3_Missense_Mutation_p.A892V|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			2	Substitution - Missense(2)	p.A892V(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2674-2676)gCg>gTg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						40.0	37.0	38.0					5																	180046339		2197	4296	6493	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046339G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2675C>T	5.37:g.180046339G>A	ENSP00000261937:p.Ala892Val					FLT4_ENST00000393347.3_Missense_Mutation_p.A892V|FLT4_ENST00000502649.1_Missense_Mutation_p.A892V	p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	19	2753	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	892			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2675C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465357	0.96257	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.83755	-1.76;-1.76;-1.76	4.0	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88588	0.6477	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90132	0.4207	9	0.87932	D	0	.	16.6758	0.85278	0.0:0.0:1.0:0.0	.	892;892	E9PD35;P35916	.;VGFR3_HUMAN	V	892	ENSP00000261937:A892V;ENSP00000377016:A892V;ENSP00000426057:A892V	ENSP00000261937:A892V	A	-	2	0	FLT4	179978945	1.000000	0.71417	0.993000	0.49108	0.881000	0.50899	9.570000	0.98174	2.229000	0.72834	0.455000	0.32223	GCG		0.701	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	12	0	0	0	1	0	11	12				
PRND	23627	broad.mit.edu	37	20	4705459	4705459	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:4705459G>A	ENST00000305817.2	+	2	333	c.262G>A	c.(262-264)Ggc>Agc	p.G88S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	88	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GTTCCCCGATGGCATCCACTA	0.602																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(262-264)Ggc>Agc		prion protein 2 (dublet)							70.0	56.0	61.0					20																	4705459		2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705459G>A	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.262G>A	20.37:g.4705459G>A	ENSP00000306900:p.Gly88Ser						p.G88S	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	333	+			88			Globular.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.262G>A	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329180	0.81690	.	.	ENSG00000171864	ENST00000305817	D	0.88818	-2.43	5.37	5.37	0.77165	Prion/Doppel protein, beta-ribbon domain (3);	0.482866	0.17415	N	0.175040	D	0.93387	0.7891	M	0.65975	2.015	0.09310	N	0.99999	D	0.67145	0.996	D	0.73380	0.98	D	0.87399	0.2368	10	0.66056	D	0.02	-13.631	14.5898	0.68356	0.0:0.0:1.0:0.0	.	88	Q9UKY0	PRND_HUMAN	S	88	ENSP00000306900:G88S	ENSP00000306900:G88S	G	+	1	0	PRND	4653459	0.293000	0.24371	0.290000	0.24890	0.991000	0.79684	4.484000	0.60271	2.502000	0.84385	0.557000	0.71058	GGC		0.602	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		9	28	0	0	0	1	0	9	28				
HSD3B2	3284	broad.mit.edu	37	1	119964777	119964777	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:119964777C>G	ENST00000543831.1	+	4	902	c.653C>G	c.(652-654)tCt>tGt	p.S218C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S218C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	218					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GGAAAGTTCTCTACAGTCAAC	0.532																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(652-654)tCt>tGt		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						68.0	68.0	68.0					1																	119964777		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964777C>G	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.653C>G	1.37:g.119964777C>G	ENSP00000445122:p.Ser218Cys					HSD3B2_ENST00000369416.3_Missense_Mutation_p.S218C	p.S218C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	902	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	218					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.653C>G	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	13.49	2.251578	0.39797	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.85411	-1.98;-1.98	3.98	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.051567	0.85682	D	0.000000	D	0.87406	0.6169	M	0.67517	2.055	0.21740	N	0.999564	D	0.67145	0.996	D	0.67231	0.95	T	0.81077	-0.1096	9	.	.	.	-24.243	15.0984	0.72253	0.0:1.0:0.0:0.0	.	218	P26439	3BHS2_HUMAN	C	218	ENSP00000445122:S218C;ENSP00000358424:S218C	.	S	+	2	0	HSD3B2	119766300	1.000000	0.71417	0.101000	0.21167	0.186000	0.23388	7.112000	0.77086	1.795000	0.52594	0.298000	0.19748	TCT		0.532	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		27	64	0	0	0	1	0	27	64				
BRWD3	254065	broad.mit.edu	37	X	79932685	79932685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:79932685G>A	ENST00000373275.4	-	41	5048	c.4832C>T	c.(4831-4833)tCc>tTc	p.S1611F	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1611					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTAAACTGGATCCTAACTC	0.383																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4831-4833)tCc>tTc		bromodomain and WD repeat domain containing 3							134.0	119.0	124.0					X																	79932685		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932685G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4832C>T	X.37:g.79932685G>A	ENSP00000362372:p.Ser1611Phe						p.S1611F	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5048	-			1611					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4832C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818299	0.50633	.	.	ENSG00000165288	ENST00000373275	T	0.77098	-1.07	4.43	4.43	0.53597	.	0.137361	0.49916	D	0.000121	T	0.68714	0.3031	N	0.22421	0.69	0.47308	D	0.999384	P	0.50943	0.94	P	0.44860	0.462	T	0.69060	-0.5245	9	.	.	.	-4.2986	16.414	0.83728	0.0:0.0:1.0:0.0	.	1611	Q6RI45	BRWD3_HUMAN	F	1611	ENSP00000362372:S1611F	.	S	-	2	0	BRWD3	79819341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.463000	0.73530	2.044000	0.60594	0.506000	0.49869	TCC		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		18	68	0	0	0	1	0	18	68				
CDK14	5218	broad.mit.edu	37	7	90585078	90585078	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:90585078G>A	ENST00000380050.3	+	9	1024	c.893G>A	c.(892-894)aGa>aAa	p.R298K	CDK14_ENST00000406263.1_Missense_Mutation_p.R252K|CDK14_ENST00000436577.2_Missense_Mutation_p.R169K|CDK14_ENST00000265741.3_Missense_Mutation_p.R280K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTGTGGTACAGACCTCCAGAT	0.433																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(754-756)aGa>aAa		cyclin-dependent kinase 14							187.0	162.0	171.0					7																	90585078		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90585078G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.893G>A	7.37:g.90585078G>A	ENSP00000369390:p.Arg298Lys					CDK14_ENST00000265741.3_Missense_Mutation_p.R280K|CDK14_ENST00000380050.3_Missense_Mutation_p.R298K|CDK14_ENST00000436577.2_Missense_Mutation_p.R169K	p.R252K			O94921	CDK14_HUMAN			8	1197	+			298			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.755G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.019344	0.97205	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.81942	2.565	0.58432	D	0.999998	P;P;D	0.57571	0.921;0.877;0.98	D;P;D	0.73708	0.973;0.653;0.981	T	0.74022	-0.3798	10	0.87932	D	0	-20.399	20.6721	0.99693	0.0:0.0:1.0:0.0	.	169;280;298	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	K	298;280;252;169	ENSP00000369390:R298K;ENSP00000265741:R280K;ENSP00000385034:R252K;ENSP00000398936:R169K	ENSP00000265741:R280K	R	+	2	0	CDK14	90423014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	AGA		0.433	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		20	134	0	0	0	1	0	20	134				
PAK6	56924	broad.mit.edu	37	15	40565664	40565664	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:40565664C>G	ENST00000542403.2	+	6	1719	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L	PAK6_ENST00000455577.2_Silent_p.L536L|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Silent_p.L536L|PAK6_ENST00000260404.4_Silent_p.L536L|PAK6_ENST00000453867.1_Silent_p.L536L|PAK6_ENST00000441369.1_Silent_p.L536L	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCTGACCCTCGATGGCAGGG	0.607																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1606-1608)ctC>ctG		p21 protein (Cdc42/Rac)-activated kinase 6							98.0	81.0	87.0					15																	40565664		2203	4300	6503	SO:0001819	synonymous_variant	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40565664C>G	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1608C>G	15.37:g.40565664C>G						PAK6_ENST00000453867.1_Silent_p.L536L|PAK6_ENST00000542403.2_Silent_p.L536L|PAK6_ENST00000441369.1_Silent_p.L536L|PAK6_ENST00000260404.4_Silent_p.L536L|PAK6_ENST00000560346.1_Silent_p.L536L|RP11-133K1.2_ENST00000558658.1_3'UTR	p.L536L	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	8	2520	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	536			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	c.1608C>G	CCDS10054.1																																																																																				0.607	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			5	26	0	0	0	1	0	5	26				
CLSTN2	64084	broad.mit.edu	37	3	140281142	140281142	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:140281142C>A	ENST00000458420.3	+	13	2394	c.2204C>A	c.(2203-2205)tCc>tAc	p.S735Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	735					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCAGGCTACTCCATCTACGGT	0.552										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2203-2205)tCc>tAc		calsyntenin 2							106.0	97.0	100.0					3																	140281142		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281142C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2204C>A	3.37:g.140281142C>A	ENSP00000402460:p.Ser735Tyr	HNSCC(16;0.037)					p.S735Y	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			13	2394	+			735					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2204C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663967	0.67700	.	.	ENSG00000158258	ENST00000458420	T	0.30448	1.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.74258	2.255	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.54892	-0.8225	9	.	.	.	-25.8184	17.5547	0.87887	0.0:1.0:0.0:0.0	.	735	Q9H4D0	CSTN2_HUMAN	Y	735	ENSP00000402460:S735Y	.	S	+	2	0	CLSTN2	141763832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.227000	0.78070	2.755000	0.94549	0.655000	0.94253	TCC		0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		25	33	1	0	4.4004e-07	1	4.8636e-07	25	33				
CHSY3	337876	broad.mit.edu	37	5	129520570	129520570	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:129520570G>C	ENST00000305031.4	+	3	2093	c.1735G>C	c.(1735-1737)Gat>Cat	p.D579H		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	579					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CGAAGAGCTAGATGTCAACAG	0.403																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1735-1737)Gat>Cat		chondroitin sulfate synthase 3							74.0	80.0	78.0					5																	129520570		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520570G>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1735G>C	5.37:g.129520570G>C	ENSP00000302629:p.Asp579His						p.D579H	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2093	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	579					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1735G>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221964	0.58560	.	.	ENSG00000198108	ENST00000305031	T	0.35973	1.28	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000019	T	0.56455	0.1986	M	0.69823	2.125	0.80722	D	1	D	0.55605	0.972	P	0.60345	0.873	T	0.56619	-0.7949	9	.	.	.	-6.7634	18.2607	0.90034	0.0:0.0:1.0:0.0	.	579	Q70JA7	CHSS3_HUMAN	H	579	ENSP00000302629:D579H	.	D	+	1	0	CHSY3	129548469	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.541000	0.73865	2.708000	0.92522	0.650000	0.86243	GAT		0.403	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		8	53	0	0	0	1	0	8	53				
MAPK8IP3	23162	broad.mit.edu	37	16	1817212	1817212	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:1817212C>T	ENST00000250894.4	+	26	3305	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1044C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1050					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCACTCCATCCGCTGCATGGC	0.617																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3148-3150)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 3							80.0	93.0	88.0					16																	1817212		2147	4258	6405	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817212C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3148C>T	16.37:g.1817212C>T	ENSP00000250894:p.Arg1050Cys					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1044C	p.R1050C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			26	3305	+			1050					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3148C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873228	0.72180	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63417	-0.04;-0.04	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061993	0.64402	D	0.000002	T	0.81969	0.4935	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.86687	0.1920	10	0.87932	D	0	-30.0266	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1051;1044;1050	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	1050;1044	ENSP00000250894:R1050C;ENSP00000348290:R1044C	ENSP00000250894:R1050C	R	+	1	0	MAPK8IP3	1757213	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.595000	0.82710	1.976000	0.57569	0.591000	0.81541	CGC		0.617	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		34	59	0	0	0	1	0	34	59				
SMARCA2	6595	broad.mit.edu	37	9	2086853	2086853	+	Missense_Mutation	SNP	G	G	A	rs281875206		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:2086853G>A	ENST00000382203.1	+	18	2760	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D851N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D851N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D851N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	851	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		D -> H (in NCBRS; dbSNP:rs281875206). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATGATAGTGGACGAAGGCCA	0.488																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2551-2553)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							85.0	80.0	82.0					9																	2086853		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2086853G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2551G>A	9.37:g.2086853G>A	ENSP00000371638:p.Asp851Asn					SMARCA2_ENST00000382194.1_Missense_Mutation_p.D851N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D851N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D851N	p.D851N			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	18	2760	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	851			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2551G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611259	0.96637	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	H	0.99668	4.69	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.97110	1.0;0.993;0.996	D	0.95998	0.8991	10	0.87932	D	0	-37.8239	20.0637	0.97700	0.0:0.0:1.0:0.0	.	452;851;851	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	N	851	ENSP00000265773:D851N;ENSP00000349788:D851N;ENSP00000371638:D851N;ENSP00000371629:D851N	ENSP00000265773:D851N	D	+	1	0	SMARCA2	2076853	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.798000	0.99111	2.751000	0.94390	0.650000	0.86243	GAC		0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		14	58	0	0	0	1	0	14	58				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	11	0	0	0	1	0	13	11				
SLC46A2	57864	broad.mit.edu	37	9	115648856	115648856	+	Silent	SNP	G	G	T	rs200400658		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:115648856G>T	ENST00000374228.4	-	3	1485	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	418					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCACCACGCCGGTCAGAGCCA	0.547																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(1252-1254)acC>acA		solute carrier family 46, member 2							211.0	161.0	178.0					9																	115648856		2203	4300	6503	SO:0001819	synonymous_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115648856G>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1254C>A	9.37:g.115648856G>T							p.T418T	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			3	1485	-			418					B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	c.1254C>A	CCDS6786.1																																																																																				0.547	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		12	83	1	0	2.68362e-12	1	3.05545e-12	12	83				
FKBP8	23770	broad.mit.edu	37	19	18649113	18649113	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:18649113C>T	ENST00000596558.2	-	5	791	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.G257S|FKBP8_ENST00000222308.4_Missense_Mutation_p.G228S|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000608443.1_Missense_Mutation_p.G229S|FKBP8_ENST00000597960.3_Missense_Mutation_p.G229S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	228					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGGGCGTTGCCGCACTCCCGC	0.682																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(685-687)Ggc>Agc		FK506 binding protein 8, 38kDa							47.0	44.0	45.0					19																	18649113		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649113C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.682G>A	19.37:g.18649113C>T	ENSP00000472302:p.Gly228Ser					FKBP8_ENST00000222308.3_Missense_Mutation_p.G229S|FKBP8_ENST00000596558.1_Missense_Mutation_p.G228S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.G257S	p.G229S			Q14318	FKBP8_HUMAN			5	805	-			228					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.685G>A		.	.	.	.	.	.	.	.	.	.	C	17.82	3.483834	0.63962	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	D;D	0.86366	-2.11;-2.11	3.79	2.76	0.32466	Elongated TPR repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;0.999;1.0	D	0.90471	0.4453	10	0.87932	D	0	-25.9448	10.387	0.44145	0.0:0.9028:0.0:0.0972	.	257;172;228;229	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	S	229;257	ENSP00000222308:G229S;ENSP00000388891:G257S	ENSP00000222308:G229S	G	-	1	0	FKBP8	18510113	1.000000	0.71417	0.998000	0.56505	0.336000	0.28762	7.058000	0.76676	0.812000	0.34326	-0.258000	0.10820	GGC		0.682	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		14	34	0	0	0	1	0	14	34				
SLC4A3	6508	broad.mit.edu	37	2	220501536	220501536	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:220501536G>A	ENST00000358055.3	+	16	2987	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	SLC4A3_ENST00000373762.3_Silent_p.E852E|SLC4A3_ENST00000273063.6_Silent_p.E852E|SLC4A3_ENST00000373760.2_Silent_p.E825E|SLC4A3_ENST00000317151.3_Silent_p.E825E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	825	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACCCAGGAGATCTTTGCCT	0.577																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2473-2475)gaG>gaA		solute carrier family 4 (anion exchanger), member 3							196.0	181.0	186.0					2																	220501536		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501536G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2475G>A	2.37:g.220501536G>A						SLC4A3_ENST00000273063.6_Silent_p.E852E|SLC4A3_ENST00000317151.3_Silent_p.E825E|SLC4A3_ENST00000373762.3_Silent_p.E852E|SLC4A3_ENST00000373760.2_Silent_p.E825E	p.E825E			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2987	+		Renal(207;0.0183)	825			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.2475G>A	CCDS2445.1																																																																																				0.577	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		29	72	0	0	0	1	0	29	72				
MED1	5469	broad.mit.edu	37	17	37596727	37596727	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:37596727G>C	ENST00000394287.3	-	5	516	c.311C>G	c.(310-312)aCg>aGg	p.T104R	MED1_ENST00000300651.6_Missense_Mutation_p.T104R			O95243	MBD4_HUMAN	mediator complex subunit 1	0	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATATCTGACGTGATGTAACA	0.428										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(310-312)aCg>aGg		mediator complex subunit 1							117.0	116.0	117.0					17																	37596727		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37596727G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.311C>G	17.37:g.37596727G>C	ENSP00000377828:p.Thr104Arg	HNSCC(31;0.082)				MED1_ENST00000394287.3_Missense_Mutation_p.T104R	p.T104R	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	5	534	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	104			Interaction with ESR1.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.311C>G		.	.	.	.	.	.	.	.	.	.	G	26.5	4.745779	0.89663	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.35236	1.32	5.65	5.65	0.86999	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.61022	0.2314	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59456	-0.7451	9	0.51188	T	0.08	-6.7064	19.3114	0.94188	0.0:0.0:1.0:0.0	.	104;104	Q15648;Q15648-3	MED1_HUMAN;.	R	104	ENSP00000300651:T104R	ENSP00000300651:T104R	T	-	2	0	MED1	34850253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.129000	0.94430	2.667000	0.90743	0.455000	0.32223	ACG		0.428	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		26	90	0	0	0	1	0	26	90				
COL19A1	1310	broad.mit.edu	37	6	70866224	70866224	+	Missense_Mutation	SNP	G	G	A	rs201036860		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:70866224G>A	ENST00000322773.4	+	33	2303	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.R356Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	734	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATAGGGCCACGGGGTCCTCCA	0.483																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2200-2202)cGg>cAg		collagen, type XIX, alpha 1							110.0	109.0	109.0					6																	70866224		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866224G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2201G>A	6.37:g.70866224G>A	ENSP00000316030:p.Arg734Gln					COL19A1_ENST00000393344.1_Missense_Mutation_p.R356Q	p.R734Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			33	2303	+			734			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2201G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	g	13.16	2.154608	0.38021	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93547	-3.24;-3.24	5.49	4.63	0.57726	.	0.079324	0.47455	N	0.000237	D	0.87354	0.6156	N	0.12746	0.255	0.30946	N	0.725291	D	0.89917	1.0	D	0.87578	0.998	T	0.82283	-0.0534	10	0.11182	T	0.66	.	12.8525	0.57864	0.0753:0.0:0.9247:0.0	.	734	Q14993	COJA1_HUMAN	Q	734;356	ENSP00000316030:R734Q;ENSP00000377013:R356Q	ENSP00000316030:R734Q	R	+	2	0	COL19A1	70922945	1.000000	0.71417	0.992000	0.48379	0.286000	0.27126	3.724000	0.54962	1.345000	0.45676	-0.213000	0.12676	CGG		0.483	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			8	47	0	0	0	1	0	8	47				
PRR12	57479	broad.mit.edu	37	19	50098372	50098372	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50098372G>A	ENST00000418929.2	+	4	792	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCCGAGCAGTCCTCCCCAC	0.692																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(778-780)caG>caA		proline rich 12							11.0	13.0	12.0					19																	50098372		1823	3910	5733	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50098372G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.780G>A	19.37:g.50098372G>A							p.Q260Q	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	792	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	46			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.780G>A	CCDS46143.1																																																																																				0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	9	0	0	0	1	0	4	9				
PLEKHH1	57475	broad.mit.edu	37	14	68029424	68029424	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68029424C>G	ENST00000329153.5	+	7	1208	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	359						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTCCACCCCTCTGGCCTTCCT	0.612																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(1075-1077)tCt>tGt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							25.0	28.0	27.0					14																	68029424		1971	4162	6133	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68029424C>G	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1076C>G	14.37:g.68029424C>G	ENSP00000330278:p.Ser359Cys						p.S359C	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	7	1208	+			359					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1076C>G	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109202	0.20714	.	.	ENSG00000054690	ENST00000329153	T	0.23348	1.91	5.03	3.03	0.35002	.	1.293020	0.04643	N	0.405701	T	0.34019	0.0883	L	0.54323	1.7	0.09310	N	0.999999	P	0.45176	0.852	P	0.45099	0.469	T	0.32640	-0.9899	10	0.38643	T	0.18	.	11.8801	0.52571	0.327:0.673:0.0:0.0	.	359	Q9ULM0	PKHH1_HUMAN	C	359	ENSP00000330278:S359C	ENSP00000330278:S359C	S	+	2	0	PLEKHH1	67099177	0.000000	0.05858	0.016000	0.15963	0.795000	0.44927	0.081000	0.14823	1.318000	0.45170	0.491000	0.48974	TCT		0.612	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		13	17	0	0	0	1	0	13	17				
TRMT1L	81627	broad.mit.edu	37	1	185094240	185094240	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:185094240G>C	ENST00000367506.5	-	12	1863	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	532	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGGGAACTTGACCTGAAAAG	0.294																																						ENST00000367506.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1594-1596)tCa>tGa		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							56.0	57.0	57.0					1																	185094240		2202	4300	6502	SO:0001587	stop_gained	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185094240G>C	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1595C>G	1.37:g.185094240G>C	ENSP00000356476:p.Ser532*					TRMT1L_ENST00000367504.3_3'UTR	p.S532*	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN			12	1863	-			532					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Nonsense_Mutation	SNP	ENST00000367506.5	37	c.1595C>G	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491449	0.64074	.	.	ENSG00000121486	ENST00000367506;ENST00000458395	.	.	.	4.91	4.91	0.64330	.	0.133462	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-11.3631	18.464	0.90749	0.0:0.0:1.0:0.0	.	.	.	.	X	532;156	.	ENSP00000356476:S532X	S	-	2	0	TRMT1L	183360863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.444000	0.73452	2.452000	0.82932	0.585000	0.79938	TCA		0.294	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		6	31	0	0	0	1	0	6	31				
PCDHA8	56140	broad.mit.edu	37	5	140222304	140222304	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:140222304G>C	ENST00000531613.1	+	1	1398	c.1398G>C	c.(1396-1398)gaG>gaC	p.E466D	PCDHA8_ENST00000378123.3_Missense_Mutation_p.E466D|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	466	Cadherin 5. {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)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGAAGGAGAACAACCCGC	0.662																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1396-1398)gaG>gaC									45.0	48.0	47.0					5																	140222304		2194	4264	6458	SO:0001583	missense	56140							g.chr5:140222304G>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1398G>C	5.37:g.140222304G>C	ENSP00000434655:p.Glu466Asp					PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E466D|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.E466D	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1398	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1398G>C	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709683	0.68730	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.75367	-0.93;-0.93	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.37053	U	0.002270	D	0.91935	0.7446	H	0.99211	4.47	0.30024	N	0.814085	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90894	0.4763	10	0.87932	D	0	.	15.9202	0.79556	0.0:0.0:1.0:0.0	.	466;466	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	D	466	ENSP00000434655:E466D;ENSP00000367363:E466D	ENSP00000367363:E466D	E	+	3	2	PCDHA8	140202488	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.296000	0.43584	1.790000	0.52503	0.306000	0.20318	GAG		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		17	78	0	0	0	1	0	17	78				
SERPINA3	12	broad.mit.edu	37	14	95085737	95085737	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:95085737G>C	ENST00000467132.1	+	3	1997	c.849G>C	c.(847-849)aaG>aaC	p.K283N	SERPINA3_ENST00000393080.4_Missense_Mutation_p.K283N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K65N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K283N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	283					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCAAGACAAGATGGAGGAAG	0.562																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(922-924)aaG>aaC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							77.0	65.0	69.0					14																	95085737		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085737G>C	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.849G>C	14.37:g.95085737G>C	ENSP00000450540:p.Lys283Asn					SERPINA3_ENST00000393080.4_Missense_Mutation_p.K283N|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.K283N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K283N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K65N	p.K308N			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1812	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	283					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.924G>C	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951080	0.34471	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	4.79	-1.57	0.08506	Serpin domain (3);	0.339399	0.27500	N	0.019088	D	0.85796	0.5780	L	0.48362	1.52	0.26879	N	0.967573	D;P	0.76494	0.999;0.85	D;B	0.74023	0.982;0.225	T	0.77624	-0.2518	10	0.87932	D	0	.	6.2704	0.20951	0.3931:0.1461:0.4607:0.0	.	283;308	P01011;G3V5I3	AACT_HUMAN;.	N	308;283;283;283;283;65	ENSP00000452367:K308N;ENSP00000376793:K283N;ENSP00000376795:K283N;ENSP00000450540:K283N;ENSP00000451119:K65N	ENSP00000376793:K283N	K	+	3	2	SERPINA3	94155490	0.519000	0.26242	0.001000	0.08648	0.050000	0.14768	0.166000	0.16583	-0.464000	0.06963	0.561000	0.74099	AAG		0.562	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		9	66	0	0	0	1	0	9	66				
C9orf84	158401	broad.mit.edu	37	9	114456558	114456558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:114456558G>C	ENST00000318737.4	-	23	3204	c.3076C>G	c.(3076-3078)Cct>Gct	p.P1026A	C9orf84_ENST00000394777.4_Missense_Mutation_p.P952A|C9orf84_ENST00000394779.3_Missense_Mutation_p.P987A|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1026A	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1026										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTCATGAGGATCTCTCTTT	0.328																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2959-2961)Cct>Gct		chromosome 9 open reading frame 84							162.0	173.0	169.0					9																	114456558		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114456558G>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3076C>G	9.37:g.114456558G>C	ENSP00000322108:p.Pro1026Ala					C9orf84_ENST00000318737.4_Missense_Mutation_p.P1026A|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1026A|C9orf84_ENST00000394777.4_Missense_Mutation_p.P952A	p.P987A	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			21	3203	-			1026					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2959C>G	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459832	0.63401	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05199	3.48;3.53;3.49;3.49	5.63	4.68	0.58851	.	0.000000	0.53938	D	0.000060	T	0.13286	0.0322	N	0.19112	0.55	0.32906	D	0.513894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	T	0.05468	-1.0883	10	0.46703	T	0.11	-14.2951	15.6708	0.77274	0.0:0.1373:0.8627:0.0	.	952;1026;987	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	A	987;952;640;1026;1026	ENSP00000378259:P987A;ENSP00000378257:P952A;ENSP00000363405:P1026A;ENSP00000322108:P1026A	ENSP00000322108:P1026A	P	-	1	0	C9orf84	113496379	1.000000	0.71417	0.987000	0.45799	0.931000	0.56810	4.539000	0.60657	2.669000	0.90835	0.650000	0.86243	CCT		0.328	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		108	129	0	0	0	1	0	108	129				
C4orf22	255119	broad.mit.edu	37	4	81283948	81283948	+	Missense_Mutation	SNP	G	G	A	rs375423593		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:81283948G>A	ENST00000358105.3	+	2	201	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R51Q	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	51										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CTAGGCTACCGAGGGACTGGA	0.463																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(151-153)cGa>cAa		chromosome 4 open reading frame 22							120.0	128.0	125.0					4																	81283948		2203	4300	6503	SO:0001583	missense	255119							g.chr4:81283948G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.152G>A	4.37:g.81283948G>A	ENSP00000350818:p.Arg51Gln					C4orf22_ENST00000508675.1_Missense_Mutation_p.R51Q|C4orf22_ENST00000512931.1_3'UTR	p.R51Q	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			2	201	+			51					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.152G>A	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676455	0.67928	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.21	5.21	0.72293	.	0.084010	0.44483	D	0.000460	T	0.61974	0.2390	M	0.80422	2.495	0.33990	D	0.649047	D;D	0.76494	0.999;0.979	D;P	0.67103	0.949;0.606	T	0.72181	-0.4368	10	0.45353	T	0.12	.	17.8843	0.88849	0.0:0.0:1.0:0.0	.	51;51	E7EQ13;Q6V702	.;CD022_HUMAN	Q	51	ENSP00000350818:R51Q;ENSP00000425786:R51Q	ENSP00000350818:R51Q	R	+	2	0	C4orf22	81502972	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	6.595000	0.74109	2.588000	0.87417	0.585000	0.79938	CGA		0.463	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		30	95	0	0	0	1	0	30	95				
KIF15	56992	broad.mit.edu	37	3	44856477	44856477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:44856477G>T	ENST00000326047.4	+	20	2607	c.2458G>T	c.(2458-2460)Gaa>Taa	p.E820*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.E455*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	820					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTGAAATTGGAATATAGTTC	0.363																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2458-2460)Gaa>Taa		kinesin family member 15							107.0	105.0	106.0					3																	44856477		2203	4300	6503	SO:0001587	stop_gained	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856477G>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2458G>T	3.37:g.44856477G>T	ENSP00000324020:p.Glu820*					KIF15_ENST00000425755.1_Nonsense_Mutation_p.E455*	p.E820*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2607	+			820					Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	ENST00000326047.4	37	c.2458G>T	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	38	6.807334	0.97853	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.76	4.87	0.63330	.	0.000000	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.2442	0.54560	0.1353:0.0:0.8647:0.0	.	.	.	.	X	820;592;819;455	.	ENSP00000324020:E820X	E	+	1	0	KIF15	44831481	1.000000	0.71417	0.992000	0.48379	0.389000	0.30415	3.156000	0.50708	2.725000	0.93324	0.591000	0.81541	GAA		0.363	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			13	44	1	0	2.27111e-07	1	2.53988e-07	13	44				
GRSF1	2926	broad.mit.edu	37	4	71693581	71693581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:71693581C>T	ENST00000254799.6	-	6	1240	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	GRSF1_ENST00000439371.1_Missense_Mutation_p.E213K|GRSF1_ENST00000502323.1_Missense_Mutation_p.E213K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E257K|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	375					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTCCTTCTCACTTTCAAAA	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1123-1125)Gag>Aag		G-rich RNA sequence binding factor 1							217.0	217.0	217.0					4																	71693581		1858	4103	5961	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693581C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1123G>A	4.37:g.71693581C>T	ENSP00000254799:p.Glu375Lys					GRSF1_ENST00000502323.1_Missense_Mutation_p.E213K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E257K|GRSF1_ENST00000439371.1_Missense_Mutation_p.E213K|GRSF1_ENST00000508091.1_Intron	p.E375K	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1240	-		all_hematologic(202;0.21)	375					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1123G>A	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639128	0.47153	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.18960	2.2;2.28;2.18;2.28;2.25	6.02	6.02	0.97574	.	0.463335	0.22507	N	0.059155	T	0.18341	0.0440	L	0.27053	0.805	0.31976	N	0.606569	B;B	0.27559	0.094;0.181	B;B	0.24541	0.016;0.054	T	0.05733	-1.0867	10	0.30078	T	0.28	-6.063	19.3087	0.94175	0.0:1.0:0.0:0.0	.	288;375	B7Z5F9;Q12849	.;GRSF1_HUMAN	K	375;213;307;348;213;257	ENSP00000254799:E375K;ENSP00000389219:E213K;ENSP00000427354:E348K;ENSP00000425430:E213K;ENSP00000443380:E257K	ENSP00000254799:E375K	E	-	1	0	GRSF1	71912445	0.969000	0.33509	1.000000	0.80357	0.510000	0.34073	2.601000	0.46249	2.857000	0.98124	0.650000	0.86243	GAG		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		27	115	0	0	0	1	0	27	115				
RALGAPA2	57186	broad.mit.edu	37	20	20453484	20453484	+	Silent	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:20453484G>C	ENST00000202677.7	-	37	5491	c.5484C>G	c.(5482-5484)ctC>ctG	p.L1828L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1828	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCTCTGGTAGAGTGGGATGA	0.453																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(5482-5484)ctC>ctG		Ral GTPase activating protein, alpha subunit 2 (catalytic)							72.0	69.0	70.0					20																	20453484		1946	4179	6125	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20453484G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5484C>G	20.37:g.20453484G>C							p.L1828L	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			37	5626	-			1828			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.5484C>G	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	8.463	0.855755	0.17106	.	.	ENSG00000188559	ENST00000430436;ENST00000427175	.	.	.	5.77	2.76	0.32466	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	4	.	.	.	.	6.6683	0.23054	0.2651:0.1177:0.6173:0.0	.	.	.	.	C	1645;239	.	.	S	-	2	0	RALGAPA2	20401484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.172000	0.31908	0.446000	0.26666	0.655000	0.94253	TCT		0.453	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	18	0	0	0	1	0	3	18				
LAMA3	3909	broad.mit.edu	37	18	21331018	21331018	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:21331018C>G	ENST00000313654.9	+	5	1062	c.821C>G	c.(820-822)tCc>tGc	p.S274C	LAMA3_ENST00000399516.3_Missense_Mutation_p.S274C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	274	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACCTCATCTCCAAAGCCCAG	0.408																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(820-822)tCc>tGc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						101.0	101.0	101.0					18																	21331018		1891	4117	6008	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21331018C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.821C>G	18.37:g.21331018C>G	ENSP00000324532:p.Ser274Cys					LAMA3_ENST00000399516.3_Missense_Mutation_p.S274C	p.S274C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	1062	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		274			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.821C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396144	0.83011	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75938	-0.98;-0.98	5.64	5.64	0.86602	Laminin, N-terminal (3);	.	.	.	.	D	0.88070	0.6338	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.971;0.946	D	0.87209	0.2246	9	0.40728	T	0.16	.	19.7075	0.96079	0.0:1.0:0.0:0.0	.	274;274;274	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	C	274;274;272;274	ENSP00000324532:S274C;ENSP00000382432:S274C	ENSP00000324532:S274C	S	+	2	0	LAMA3	19585016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.565000	0.60836	2.643000	0.89663	0.655000	0.94253	TCC		0.408	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		37	40	0	0	0	1	0	37	40				
ARHGEF17	9828	broad.mit.edu	37	11	73078705	73078705	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:73078705G>T	ENST00000263674.3	+	21	6422	c.6072G>T	c.(6070-6072)atG>atT	p.M2024I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2024					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCCTAAAATGCTGGTTATCA	0.637																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(6070-6072)atG>atT		Rho guanine nucleotide exchange factor (GEF) 17							90.0	90.0	90.0					11																	73078705		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73078705G>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.6072G>T	11.37:g.73078705G>T	ENSP00000263674:p.Met2024Ile						p.M2024I	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			21	6422	+			2024					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.6072G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394973	0.42512	.	.	ENSG00000110237	ENST00000263674	T	0.57436	0.4	4.9	4.9	0.64082	.	0.169107	0.53938	D	0.000047	T	0.45316	0.1336	L	0.46157	1.445	0.34560	D	0.712239	B	0.18166	0.026	B	0.14578	0.011	T	0.56177	-0.8022	10	0.54805	T	0.06	-22.5726	11.3112	0.49364	0.0:0.1838:0.8162:0.0	.	2024	Q96PE2	ARHGH_HUMAN	I	2024	ENSP00000263674:M2024I	ENSP00000263674:M2024I	M	+	3	0	ARHGEF17	72756353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.129000	0.50500	2.536000	0.85505	0.561000	0.74099	ATG		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		30	31	1	0	3.69857e-22	1	4.31499e-22	30	31				
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552									Ichthyosis				C|||	3	0.000599042	0.0023	0.0	5008	,	,		19222	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9496-9498)cGt>cAt		filaggrin							259.0	260.0	259.0					1																	152277865		2201	4300	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277865C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9497G>A	1.37:g.152277865C>T	ENSP00000357789:p.Arg3166His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R3166H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9532	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3166			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9497G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790751	0.16258	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.22	-2.89	0.05665	.	.	.	.	.	T	0.00666	0.0022	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39781	-0.9597	9	0.44086	T	0.13	.	7.0931	0.25295	0.0:0.5636:0.2617:0.1747	.	3166	P20930	FILA_HUMAN	H	3166	ENSP00000357789:R3166H	ENSP00000357789:R3166H	R	-	2	0	FLG	150544489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.537000	0.06128	-0.706000	0.05028	-1.644000	0.00765	CGT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		29	363	0	0	0	1	0	29	363				
POSTN	10631	broad.mit.edu	37	13	38171330	38171330	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:38171330C>A	ENST00000379747.4	-	2	326	c.209G>T	c.(208-210)gGa>gTa	p.G70V	POSTN_ENST00000379743.4_Missense_Mutation_p.G70V|POSTN_ENST00000541179.1_Missense_Mutation_p.G70V|POSTN_ENST00000379742.4_Missense_Mutation_p.G70V|POSTN_ENST00000379749.4_Missense_Mutation_p.G70V|POSTN_ENST00000541481.1_Missense_Mutation_p.G70V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	70	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGTTTTCTGTCCACAGATGGA	0.388																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(208-210)gGa>gTa		periostin, osteoblast specific factor							108.0	103.0	105.0					13																	38171330		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38171330C>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.209G>T	13.37:g.38171330C>A	ENSP00000369071:p.Gly70Val					POSTN_ENST00000541481.1_Missense_Mutation_p.G70V|POSTN_ENST00000541179.1_Missense_Mutation_p.G70V|POSTN_ENST00000379743.4_Missense_Mutation_p.G70V|POSTN_ENST00000379749.4_Missense_Mutation_p.G70V|POSTN_ENST00000379742.4_Missense_Mutation_p.G70V	p.G70V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	2	326	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	70			EMI.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.209G>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705508	0.89018	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92348	-3.02;-2.98;-3.02;-3.01;-2.99;-3.0	5.83	5.83	0.93111	EMI domain (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.992;1.0;0.999;0.999;0.992	D	0.95758	0.8798	10	0.72032	D	0.01	.	20.1195	0.97955	0.0:1.0:0.0:0.0	.	70;70;70;70;70;70;70	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	V	70	ENSP00000437959:G70V;ENSP00000369073:G70V;ENSP00000369071:G70V;ENSP00000369067:G70V;ENSP00000369066:G70V;ENSP00000437953:G70V	ENSP00000369066:G70V	G	-	2	0	POSTN	37069330	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.433000	0.80362	2.759000	0.94783	0.650000	0.86243	GGA		0.388	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		7	13	1	0	0.0293803	1	0.0298542	7	13				
MAB21L3	126868	broad.mit.edu	37	1	116675767	116675767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:116675767G>A	ENST00000369500.3	+	7	1135	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	290										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGCTCTTTTGGACCTGCGAGA	0.488																																						ENST00000369500.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(868-870)tgG>tgA		mab-21-like 3 (C. elegans)							58.0	53.0	54.0					1																	116675767		2203	4300	6503	SO:0001587	stop_gained	126868							g.chr1:116675767G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.870G>A	1.37:g.116675767G>A	ENSP00000358512:p.Trp290*						p.W290*	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN			7	1135	+			290					Q5TDL7	Nonsense_Mutation	SNP	ENST00000369500.3	37	c.870G>A	CCDS886.1	.	.	.	.	.	.	.	.	.	.	G	39	7.431997	0.98279	.	.	ENSG00000173212	ENST00000369500	.	.	.	5.27	5.27	0.74061	.	0.111125	0.42420	D	0.000719	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0162	19.2462	0.93904	0.0:0.0:1.0:0.0	.	.	.	.	X	290	.	ENSP00000358512:W290X	W	+	3	0	MAB21L3	116477290	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.369000	0.79578	2.607000	0.88179	0.655000	0.94253	TGG		0.488	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		7	14	0	0	0	1	0	7	14				
PLEC	5339	broad.mit.edu	37	8	144993270	144993270	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:144993270G>A	ENST00000322810.4	-	32	11299	c.11130C>T	c.(11128-11130)gaC>gaT	p.D3710D	PLEC_ENST00000345136.3_Silent_p.D3573D|PLEC_ENST00000357649.2_Silent_p.D3577D|PLEC_ENST00000436759.2_Silent_p.D3600D|PLEC_ENST00000354958.2_Silent_p.D3551D|PLEC_ENST00000398774.2_Silent_p.D3541D|PLEC_ENST00000527096.1_Silent_p.D3596D|PLEC_ENST00000354589.3_Silent_p.D3573D|PLEC_ENST00000356346.3_Silent_p.D3559D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3710	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGGGAATGTCGATCTGTG	0.627																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11128-11130)gaC>gaT		plectin							66.0	82.0	77.0					8																	144993270		2095	4207	6302	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993270G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11130C>T	8.37:g.144993270G>A						PLEC_ENST00000356346.3_Silent_p.D3559D|PLEC_ENST00000345136.3_Silent_p.D3573D|PLEC_ENST00000357649.2_Silent_p.D3577D|PLEC_ENST00000354958.2_Silent_p.D3551D|PLEC_ENST00000354589.3_Silent_p.D3573D|PLEC_ENST00000436759.2_Silent_p.D3600D|PLEC_ENST00000527096.1_Silent_p.D3596D|PLEC_ENST00000398774.2_Silent_p.D3541D	p.D3710D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11299	-			3710			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11130C>T	CCDS43772.1																																																																																				0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		82	138	0	0	0	1	0	82	138				
NDUFAF3	25915	broad.mit.edu	37	3	49059931	49059931	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059931G>T	ENST00000326925.6	+	2	1364	c.230G>T	c.(229-231)gGc>gTc	p.G77V	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G20V|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G20V|DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G20V	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D). {ECO:0000269|PubMed:19463981}.		mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CGCGTGCTCGGCCCCTGCGCT	0.632																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(229-231)gGc>gTc		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							23.0	22.0	23.0					3																	49059931		2202	4300	6502	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49059931G>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.230G>T	3.37:g.49059931G>T	ENSP00000323076:p.Gly77Val					NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G20V|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G20V|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G20V	p.G77V	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			2	1364	+			77		G -> R (in MT-C1D).				Missense_Mutation	SNP	ENST00000326925.6	37	c.230G>T	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917752	0.92249	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.52	4.63	0.57726	.	0.050661	0.85682	D	0.000000	D	0.92567	0.7639	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94596	0.7792	10	0.87932	D	0	-25.663	15.2332	0.73407	0.0:0.0:0.8581:0.1419	.	77	Q9BU61	NDUF3_HUMAN	V	20;77;20;20	ENSP00000323003:G20V;ENSP00000323076:G77V;ENSP00000378843:G20V;ENSP00000402465:G20V	ENSP00000323003:G20V	G	+	2	0	NDUFAF3	49034935	1.000000	0.71417	0.013000	0.15412	0.906000	0.53458	9.154000	0.94694	1.279000	0.44446	0.591000	0.81541	GGC		0.632	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		4	21	1	0	1.024e-07	1	1.152e-07	4	21				
SHQ1	55164	broad.mit.edu	37	3	72842100	72842100	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:72842100A>G	ENST00000325599.8	-	10	1287	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.I355T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	383					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTAGTCTGAGATGTAGAGATC	0.343																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1147-1149)aTc>aCc		SHQ1, H/ACA ribonucleoprotein assembly factor							86.0	84.0	84.0					3																	72842100		2203	4299	6502	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72842100A>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1148T>C	3.37:g.72842100A>G	ENSP00000315182:p.Ile383Thr					SHQ1_ENST00000463369.1_Missense_Mutation_p.I355T|SHQ1_ENST00000468371.1_5'UTR	p.I383T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	10	1287	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	383					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.1148T>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472260	0.84533	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.40756	1.06;1.02	5.85	5.85	0.93711	SHQ1 protein (1);	0.222135	0.45126	D	0.000393	T	0.67097	0.2857	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.71909	-0.4450	10	0.87932	D	0	-11.0802	16.2317	0.82347	1.0:0.0:0.0:0.0	.	383	Q6PI26	SHQ1_HUMAN	T	383;355	ENSP00000315182:I383T;ENSP00000417452:I355T	ENSP00000315182:I383T	I	-	2	0	SHQ1	72924790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.126000	0.94411	2.237000	0.73441	0.528000	0.53228	ATC		0.343	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		3	28	0	0	0	1	0	3	28				
SPTA1	6708	broad.mit.edu	37	1	158618302	158618302	+	Silent	SNP	A	A	G	rs373848368		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:158618302A>G	ENST00000368147.4	-	26	3891	c.3711T>C	c.(3709-3711)gaT>gaC	p.D1237D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1237					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTCACCTTATCTCCCAGGG	0.483																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3709-3711)gaT>gaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		A		1,3821		0,1,1910	107.0	108.0	107.0		3711	-5.8	0.9	1		107	0,8238		0,0,4119	no	coding-synonymous	SPTA1	NM_003126.2		0,1,6029	GG,GA,AA		0.0,0.0262,0.0083		1237/2420	158618302	1,12059	1911	4119	6030	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618302A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3711T>C	1.37:g.158618302A>G						SPTA1_ENST00000368147.3_Silent_p.D1237D	p.D1237D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3891	-	all_hematologic(112;0.0378)		1237					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3711T>C	CCDS41423.1																																																																																				0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	76	0	0	0	1	0	22	76				
DAOA	267012	broad.mit.edu	37	13	106124954	106124954	+	Silent	SNP	C	C	T	rs201139062		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:106124954C>T	ENST00000375936.3	+	3	247	c.201C>T	c.(199-201)gaC>gaT	p.D67D	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	67					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.D67D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGCATGAGGACGGCTATTTGG	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18053	0.0		0.0	False		,,,				2504	0.0					ENST00000375936.3																			1	Substitution - coding silent(1)	p.D67D(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13						c.(199-201)gaC>gaT		D-amino acid oxidase activator							176.0	176.0	176.0					13																	106124954		1937	4123	6060	SO:0001819	synonymous_variant	267012					Golgi apparatus		g.chr13:106124954C>T	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.201C>T	13.37:g.106124954C>T						DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	p.D67D	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN			3	247	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		67					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Silent	SNP	ENST00000375936.3	37	c.201C>T	CCDS41905.1																																																																																				0.413	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370		22	28	0	0	0	1	0	22	28				
NDUFAF3	25915	broad.mit.edu	37	3	49059932	49059932	+	Silent	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059932C>A	ENST00000326925.6	+	2	1365	c.231C>A	c.(229-231)ggC>ggA	p.G77G	NDUFAF3_ENST00000395458.2_Silent_p.G20G|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Silent_p.G20G|DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000451378.2_Silent_p.G20G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D). {ECO:0000269|PubMed:19463981}.		mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGTGCTCGGCCCCTGCGCTC	0.632																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(229-231)ggC>ggA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							23.0	22.0	23.0					3																	49059932		2202	4300	6502	SO:0001819	synonymous_variant	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49059932C>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.231C>A	3.37:g.49059932C>A						NDUFAF3_ENST00000395458.2_Silent_p.G20G|NDUFAF3_ENST00000326912.4_Silent_p.G20G|NDUFAF3_ENST00000451378.2_Silent_p.G20G	p.G77G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			2	1365	+			77		G -> R (in MT-C1D).				Silent	SNP	ENST00000326925.6	37	c.231C>A	CCDS2784.1																																																																																				0.632	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		4	21	1	0	1	1	1	4	21				
MAP3K13	9175	broad.mit.edu	37	3	185184672	185184672	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:185184672C>G	ENST00000265026.3	+	10	1898	c.1564C>G	c.(1564-1566)Cct>Gct	p.P522A	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P315A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P522A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P378A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P378A	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTGTTCGTCCTATCATCCA	0.493																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1564-1566)Cct>Gct		mitogen-activated protein kinase kinase kinase 13							150.0	120.0	130.0					3																	185184672		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184672C>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1564C>G	3.37:g.185184672C>G	ENSP00000265026:p.Pro522Ala					MAP3K13_ENST00000446828.1_Missense_Mutation_p.P315A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P378A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P522A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P378A	p.P522A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1898	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		522						Missense_Mutation	SNP	ENST00000265026.3	37	c.1564C>G	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620363	0.87460	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.056975	0.64402	D	0.000001	T	0.26738	0.0654	L	0.27053	0.805	0.80722	D	1	P;D;P	0.55385	0.868;0.971;0.952	P;P;P	0.56700	0.661;0.804;0.54	T	0.01045	-1.1470	10	0.06757	T	0.87	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	378;315;522	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	A	315;522;378;378;522	ENSP00000411483:P315A;ENSP00000399910:P522A;ENSP00000409325:P378A;ENSP00000439257:P378A;ENSP00000265026:P522A	ENSP00000265026:P522A	P	+	1	0	MAP3K13	186667366	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.929000	0.70096	2.776000	0.95493	0.655000	0.94253	CCT		0.493	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		44	53	0	0	0	1	0	44	53				
RNF150	57484	broad.mit.edu	37	4	141888838	141888838	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:141888838G>T	ENST00000515673.2	-	2	707	c.674C>A	c.(673-675)gCa>gAa	p.A225E	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.A225E|RNF150_ENST00000420921.2_Missense_Mutation_p.A84E|RNF150_ENST00000379512.2_Missense_Mutation_p.A84E			Q9ULK6	RN150_HUMAN	ring finger protein 150	225						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GACGAGCCATGCGAGGGAAAT	0.418																																						ENST00000420921.2																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(250-252)gCa>gAa		ring finger protein 150							139.0	128.0	132.0					4																	141888838		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888838G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.674C>A	4.37:g.141888838G>T	ENSP00000425840:p.Ala225Glu					RNF150_ENST00000306799.3_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.A225E|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Missense_Mutation_p.A225E|RNF150_ENST00000379512.2_Missense_Mutation_p.A84E	p.A84E			Q9ULK6	RN150_HUMAN			3	339	-	all_hematologic(180;0.162)		225			PA.		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.251C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359890	0.95854	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.17370	2.28;2.28;3.22;3.24;2.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.29027	-1.0025	10	0.54805	T	0.06	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	225;225	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	E	84;84;225;225;56	ENSP00000368827:A84E;ENSP00000394581:A84E;ENSP00000425840:A225E;ENSP00000425568:A225E;ENSP00000425947:A56E	ENSP00000368827:A84E	A	-	2	0	RNF150	142108288	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCA		0.418	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		20	78	1	0	2.39187e-15	1	2.75649e-15	20	78				
SETBP1	26040	broad.mit.edu	37	18	42529917	42529917	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:42529917C>A	ENST00000282030.5	+	4	908	c.612C>A	c.(610-612)gaC>gaA	p.D204E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	204						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCACCGGTGACACCTTAAAAC	0.537									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(610-612)gaC>gaA		SET binding protein 1							82.0	73.0	76.0					18																	42529917		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42529917C>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.612C>A	18.37:g.42529917C>A	ENSP00000282030:p.Asp204Glu						p.D204E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	908	+			204					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.612C>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195861	0.38806	.	.	ENSG00000152217	ENST00000282030	T	0.35973	1.28	5.79	5.79	0.91817	.	0.050969	0.85682	D	0.000000	T	0.23926	0.0579	N	0.19112	0.55	0.31068	N	0.713312	P	0.41393	0.748	B	0.36134	0.218	T	0.13335	-1.0513	10	0.27785	T	0.31	.	15.2134	0.73244	0.0:0.9308:0.0:0.0692	.	204	Q9Y6X0	SETBP_HUMAN	E	204	ENSP00000282030:D204E	ENSP00000282030:D204E	D	+	3	2	SETBP1	40783915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.746000	0.38288	2.751000	0.94390	0.650000	0.86243	GAC		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		22	31	1	0	1.2644e-06	1	1.3578e-06	22	31				
CCL28	56477	broad.mit.edu	37	5	43388547	43388547	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:43388547C>T	ENST00000361115.4	-	2	170	c.96G>A	c.(94-96)acG>acA	p.T32T	CCL28_ENST00000537013.1_Silent_p.T32T|CCL28_ENST00000513525.1_5'UTR	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	32					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GTGAAACCTCCGTGCAACAGC	0.423																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(94-96)acG>acA		chemokine (C-C motif) ligand 28							67.0	63.0	64.0					5																	43388547		2203	4300	6503	SO:0001819	synonymous_variant	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43388547C>T	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.96G>A	5.37:g.43388547C>T						CCL28_ENST00000537013.1_Silent_p.T32T|CCL28_ENST00000513525.1_5'UTR	p.T32T	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN			2	170	-			32					D7RIE7	Silent	SNP	ENST00000361115.4	37	c.96G>A	CCDS3944.1																																																																																				0.423	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		19	28	0	0	0	1	0	19	28				
BMP8B	656	broad.mit.edu	37	1	40230531	40230531	+	Intron	SNP	C	C	T	rs16826268	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:40230531C>T	ENST00000372827.3	-	4	1049				BMP8B_ENST00000397360.2_Missense_Mutation_p.G275S	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCAGTGGCCCTGCAGCAGA	0.677																																						ENST00000397360.2																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(823-825)Ggc>Agc		bone morphogenetic protein 8b		C		134,4224	83.9+/-122.4	6,122,2051	49.0	52.0	51.0			-0.1	0.0	1	dbSNP_132	51	1123,7439	198.2+/-242.6	34,1055,3192	no	intron	BMP8B	NM_001720.3		40,1177,5243	TT,TC,CC		13.1161,3.0748,9.7291			40230531	1257,11663	2179	4281	6460	SO:0001627	intron_variant	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40230531C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.674-42G>A	1.37:g.40230531C>T						BMP8B_ENST00000372827.3_Intron	p.G275S			P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	1186	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	251					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.823G>A	CCDS444.1	227	0.10393772893772894	5	0.01016260162601626	40	0.11049723756906077	86	0.15034965034965034	96	0.1266490765171504	C	10.59	1.392748	0.25118	0.030748	0.131161	ENSG00000116985	ENST00000397360	T	0.59638	0.25	3.11	-0.0478	0.13841	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.05354	-1.0890	7	0.42905	T	0.14	.	3.9126	0.09210	0.4145:0.4617:0.0:0.1237	.	275	E7EMY8	.	S	275	ENSP00000380518:G275S	ENSP00000380518:G275S	G	-	1	0	BMP8B	40003118	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.751000	0.04803	-0.010000	0.14271	0.563000	0.77884	GGC		0.677	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		5	43	0	0	0	1	0	5	43				
MCM10	55388	broad.mit.edu	37	10	13234263	13234263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:13234263C>T	ENST00000484800.2	+	12	1631	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	MCM10_ENST00000378694.1_Nonsense_Mutation_p.Q509*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Q509*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	510					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGGAATACCCCAGAAGAGCCT	0.463																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1525-1527)Cag>Tag		minichromosome maintenance complex component 10							81.0	78.0	79.0					10																	13234263		2203	4300	6503	SO:0001587	stop_gained	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13234263C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1528C>T	10.37:g.13234263C>T	ENSP00000418268:p.Gln510*					MCM10_ENST00000484800.2_Nonsense_Mutation_p.Q510*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Q509*	p.Q509*			Q7L590	MCM10_HUMAN			11	1600	+			510					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	c.1525C>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	38	6.667384	0.97747	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.68	5.68	0.88126	.	0.326276	0.34828	N	0.003654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6186	12.8239	0.57708	0.2718:0.7282:0.0:0.0	.	.	.	.	X	509;510;510;509	.	ENSP00000354945:Q510X	Q	+	1	0	MCM10	13274269	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	2.280000	0.43443	2.674000	0.91012	0.643000	0.83706	CAG		0.463	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		3	37	0	0	0	1	0	3	37				
SEMA6A	57556	broad.mit.edu	37	5	115783098	115783098	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:115783098C>G	ENST00000343348.6	-	19	3091	c.2304G>C	c.(2302-2304)cgG>cgC	p.R768R	SEMA6A_ENST00000510263.1_Silent_p.R768R|SEMA6A_ENST00000503865.1_Silent_p.R147R|SEMA6A_ENST00000282394.6_Silent_p.R245R|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.R195R|SEMA6A_ENST00000257414.8_Silent_p.R785R|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	768					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCTGGGCTTCCGCTTCTGCT	0.637																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2302-2304)cgG>cgC		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							50.0	62.0	58.0					5																	115783098		2094	4206	6300	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783098C>G	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2304G>C	5.37:g.115783098C>G						SEMA6A_ENST00000513137.1_Silent_p.R195R|SEMA6A_ENST00000503865.1_Silent_p.R147R|SEMA6A_ENST00000282394.6_Silent_p.R245R|SEMA6A_ENST00000510263.1_Silent_p.R768R|SEMA6A_ENST00000257414.8_Silent_p.R785R	p.R768R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3091	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	768					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2304G>C	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	5.505	0.278093	0.10403	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.45	-3.3	0.05003	.	.	.	.	.	T	0.50377	0.1612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	.	7.2297	0.26036	0.1021:0.2454:0.5299:0.1226	.	.	.	.	A	283	.	.	G	-	2	0	SEMA6A	115810997	0.226000	0.23696	0.961000	0.40146	0.994000	0.84299	-0.254000	0.08781	-0.646000	0.05452	0.650000	0.86243	GGA		0.637	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		27	83	0	0	0	1	0	27	83				
ALMS1	7840	broad.mit.edu	37	2	73786128	73786128	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:73786128T>C	ENST00000264448.6	+	15	10351	c.10240T>C	c.(10240-10242)Tca>Cca	p.S3414P	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3372P	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3414					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCAGAGCACTCAGCTCAAGT	0.433																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(10240-10242)Tca>Cca		Alstrom syndrome 1							70.0	68.0	69.0					2																	73786128		1877	4106	5983	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73786128T>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10240T>C	2.37:g.73786128T>C	ENSP00000264448:p.Ser3414Pro					ALMS1_ENST00000409009.1_Missense_Mutation_p.S3372P	p.S3414P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			15	10351	+			3414					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.10240T>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611226	0.28712	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.12465	2.69;2.68	3.1	0.648	0.17801	.	0.943815	0.08598	N	0.921907	T	0.10637	0.0260	L	0.40543	1.245	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.21360	0.013;0.034;0.034	T	0.39035	-0.9633	10	0.38643	T	0.18	.	3.229	0.06741	0.0:0.1345:0.2465:0.619	.	3414;3372;3414	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	P	3372;3414	ENSP00000386627:S3372P;ENSP00000264448:S3414P	ENSP00000264448:S3414P	S	+	1	0	ALMS1	73639636	0.001000	0.12720	0.007000	0.13788	0.322000	0.28314	0.055000	0.14229	0.132000	0.18615	0.377000	0.23210	TCA		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		21	19	0	0	0	1	0	21	19				
RALB	5899	broad.mit.edu	37	2	121047295	121047295	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:121047295G>A	ENST00000272519.5	+	4	733	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.V177M|RALB_ENST00000404963.3_Missense_Mutation_p.V176M|RALB_ENST00000420510.1_Missense_Mutation_p.V155M	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	155					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CGTGCAGTACGTGGAGACGTC	0.567																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(463-465)Gtg>Atg		v-ral simian leukemia viral oncogene homolog B							101.0	99.0	99.0					2																	121047295		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121047295G>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.463G>A	2.37:g.121047295G>A	ENSP00000272519:p.Val155Met					RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.V177M|RALB_ENST00000404963.3_Missense_Mutation_p.V176M|RALB_ENST00000420510.1_Missense_Mutation_p.V155M	p.V155M	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			4	733	+		Prostate(154;0.122)	155					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.463G>A	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731579	0.69189	.	.	ENSG00000144118	ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	N	0.11131	0.1	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.74023	0.982;0.979;0.958	T	0.79738	-0.1677	9	.	.	.	.	19.3554	0.94410	0.0:0.0:1.0:0.0	.	177;176;155	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	M	177;155;155;176;155	ENSP00000438764:V177M;ENSP00000272519:V155M;ENSP00000414224:V155M;ENSP00000384328:V176M;ENSP00000398162:V155M	.	V	+	1	0	RALB	120763765	1.000000	0.71417	0.978000	0.43139	0.519000	0.34347	9.548000	0.98103	2.813000	0.96785	0.561000	0.74099	GTG		0.567	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		11	347	0	0	0	1	0	11	347				
PTH2R	5746	broad.mit.edu	37	2	209324626	209324626	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:209324626G>T	ENST00000272847.2	+	9	1134	c.921G>T	c.(919-921)tgG>tgT	p.W307C	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCAGGTGCTGGGAACTTAGTG	0.358																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(919-921)tgG>tgT		parathyroid hormone 2 receptor							121.0	123.0	122.0					2																	209324626		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209324626G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.921G>T	2.37:g.209324626G>T	ENSP00000272847:p.Trp307Cys					PTH2R_ENST00000413482.1_3'UTR	p.W307C	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	9	1134	+			307					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.921G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634820	0.67130	.	.	ENSG00000144407	ENST00000272847	D	0.82711	-1.64	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.154096	0.30093	N	0.010424	D	0.93930	0.8057	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95298	0.8401	10	0.87932	D	0	.	15.3337	0.74234	0.0:0.0:1.0:0.0	.	196;307	B4DFN8;P49190	.;PTH2R_HUMAN	C	307	ENSP00000272847:W307C	ENSP00000272847:W307C	W	+	3	0	PTH2R	209032871	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.174000	0.77620	2.701000	0.92244	0.561000	0.74099	TGG		0.358	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		22	62	1	0	7.87624e-14	1	9.02188e-14	22	62				
GBP7	388646	broad.mit.edu	37	1	89616098	89616098	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:89616098C>T	ENST00000294671.2	-	6	924	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	262	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGATTGCATCTGGAAATTAC	0.408																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(784-786)caG>caA		guanylate binding protein 7							126.0	122.0	123.0					1																	89616098		2203	4300	6503	SO:0001819	synonymous_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616098C>T	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.786G>A	1.37:g.89616098C>T							p.Q262Q	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	924	-		Lung NSC(277;0.0908)	262						Silent	SNP	ENST00000294671.2	37	c.786G>A	CCDS720.1																																																																																				0.408	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		22	44	0	0	0	1	0	22	44				
PAPPA2	60676	broad.mit.edu	37	1	176564033	176564033	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:176564033C>T	ENST00000367662.3	+	3	2457	c.1293C>T	c.(1291-1293)acC>acT	p.T431T	PAPPA2_ENST00000367661.3_Silent_p.T431T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	431					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGGTCGACCGCCCTGCCAC	0.562																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1291-1293)acC>acT		pappalysin 2							92.0	99.0	97.0					1																	176564033		2119	4229	6348	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564033C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1293C>T	1.37:g.176564033C>T						PAPPA2_ENST00000367661.3_Silent_p.T431T	p.T431T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2457	+			431					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1293C>T	CCDS41438.1																																																																																				0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			33	56	0	0	0	1	0	33	56				
JAG1	182	broad.mit.edu	37	20	10632825	10632825	+	Silent	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:10632825A>G	ENST00000254958.5	-	7	1475	c.960T>C	c.(958-960)taT>taC	p.Y320Y	JAG1_ENST00000423891.2_Silent_p.Y161Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	320	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGGAACACTGATATTTGTCAG	0.468									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(958-960)taT>taC		jagged 1							82.0	77.0	79.0					20																	10632825		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10632825A>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.960T>C	20.37:g.10632825A>G						JAG1_ENST00000423891.2_Silent_p.Y161Y	p.Y320Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			7	1475	-			320			EGF-like 3.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.960T>C	CCDS13112.1																																																																																				0.468	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		12	41	0	0	0	1	0	12	41				
NRXN1	9378	broad.mit.edu	37	2	50149208	50149208	+	Silent	SNP	G	G	A	rs201630518		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:50149208G>A	ENST00000406316.2	-	22	5784	c.4308C>T	c.(4306-4308)gaC>gaT	p.D1436D	NRXN1_ENST00000401669.2_Silent_p.D1466D|NRXN1_ENST00000401710.1_Silent_p.D454D|NRXN1_ENST00000342183.5_Silent_p.D401D|NRXN1_ENST00000402717.3_Silent_p.D1458D|NRXN1_ENST00000405472.3_Silent_p.D1458D|NRXN1_ENST00000404971.1_Silent_p.D1506D|NRXN1_ENST00000406859.3_Silent_p.D1436D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1436					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCGACTCTCGTCCACATGGT	0.483																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4516-4518)gaC>gaT		neurexin 1							229.0	184.0	199.0					2																	50149208		2203	4300	6503	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149208G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4308C>T	2.37:g.50149208G>A						NRXN1_ENST00000342183.5_Silent_p.D401D|NRXN1_ENST00000406859.3_Silent_p.D1436D|NRXN1_ENST00000401710.1_Silent_p.D454D|NRXN1_ENST00000405472.3_Silent_p.D1458D|NRXN1_ENST00000406316.2_Silent_p.D1436D|NRXN1_ENST00000402717.3_Silent_p.D1458D|NRXN1_ENST00000401669.2_Silent_p.D1466D	p.D1506D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5857	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1436					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.4518C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.619|3.619	-0.077983|-0.077983	0.07184|0.07184	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.44|5.44	-0.365|-0.365	0.12549|0.12549	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58278	.|0.2111	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52631	.|-0.8550	.|4	.|.	.|.	.|.	.|.	11.1887|11.1887	0.48673|0.48673	0.5965:0.0:0.4035:0.0|0.5965:0.0:0.4035:0.0	.|.	.|.	.|.	.|.	X|M	103|169	.|.	.|.	R|T	-|-	1|2	2|0	NRXN1|NRXN1	50002712|50002712	0.283000|0.283000	0.24277|0.24277	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	-0.390000|-0.390000	0.07332|0.07332	-0.262000|-0.262000	0.09392|0.09392	-0.126000|-0.126000	0.14955|0.14955	CGA|ACG		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			26	58	0	0	0	1	0	26	58				
PIK3CD	5293	broad.mit.edu	37	1	9778767	9778767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:9778767G>A	ENST00000377346.4	+	9	1231	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	PIK3CD_ENST00000361110.2_Missense_Mutation_p.G311R|PIK3CD_ENST00000536656.1_Missense_Mutation_p.G311R|PIK3CD_ENST00000543390.1_Missense_Mutation_p.G13R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	346	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGTGCAGGCCGGGCTTTTCCA	0.637																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(931-933)Ggg>Agg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							65.0	63.0	64.0					1																	9778767		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9778767G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1036G>A	1.37:g.9778767G>A	ENSP00000366563:p.Gly346Arg					PIK3CD_ENST00000543390.1_Missense_Mutation_p.G13R|PIK3CD_ENST00000361110.2_Missense_Mutation_p.G311R|PIK3CD_ENST00000377346.4_Missense_Mutation_p.G346R	p.G311R			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	9	1139	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	346					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.931G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058172	0.93846	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.45	5.45	0.79879	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.052624	0.85682	D	0.000000	D	0.88654	0.6495	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.999;0.973;0.999	D	0.90242	0.4287	10	0.87932	D	0	-44.9659	19.3356	0.94316	0.0:0.0:1.0:0.0	.	346;311;346	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	R	311;346;311;311;13	ENSP00000446444:G311R;ENSP00000366563:G346R;ENSP00000354410:G311R;ENSP00000443811:G13R	ENSP00000353766:G311R	G	+	1	0	PIK3CD	9701354	1.000000	0.71417	0.942000	0.38095	0.692000	0.40212	9.822000	0.99363	2.548000	0.85928	0.650000	0.86243	GGG		0.637	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		16	32	0	0	0	1	0	16	32				
TRBV6-9	28598	broad.mit.edu	37	7	142104180	142104180	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:142104180G>A	ENST00000390379.1	-	0	284									T cell receptor beta variable 6-9																		ACTCCAGCCTGAGCGGGAAAT	0.512																																						ENST00000390379.1																			0																				163.0	168.0	166.0					7																	142104180		2131	4247	6378			28598							g.chr7:142104180G>A	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104180G>A														0	284	-									RNA	SNP	ENST00000390379.1	37																																																																																						0.512	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		95	102	0	0	0	1	0	95	102				
ESPNP	284729	broad.mit.edu	37	1	17023363	17023363	+	RNA	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:17023363C>G	ENST00000492551.1	-	0	1584					NR_026567.1				espin pseudogene																		GCCTTAATCTCAGCCAGTAGC	0.622																																						ENST00000492551.1																			0																																																			284729							g.chr1:17023363C>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023363C>G								NR_026567.1						0	1584	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	13	0	0	0	1	0	6	13				
TMEM81	388730	broad.mit.edu	37	1	205053122	205053122	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:205053122G>A	ENST00000367167.3	-	1	523	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	109	Ig-like.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAAACTCCAAGATGTCTGAAC	0.498																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(325-327)atC>atT		transmembrane protein 81							94.0	94.0	94.0					1																	205053122		2203	4300	6503	SO:0001819	synonymous_variant	388730					integral to membrane		g.chr1:205053122G>A	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.327C>T	1.37:g.205053122G>A							p.I109I	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	523	-	all_cancers(21;0.144)|Breast(84;0.0437)		109			Ig-like.		Q6UVZ4	Silent	SNP	ENST00000367167.3	37	c.327C>T	CCDS1450.1																																																																																				0.498	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		23	36	0	0	0	1	0	23	36				
CDC42EP4	23580	broad.mit.edu	37	17	71282259	71282259	+	Silent	SNP	G	G	A	rs150501422	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:71282259G>A	ENST00000335793.3	-	2	775	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CDC42EP4_ENST00000439510.2_Silent_p.A57A|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	127					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTCTCCGCGGCCTCCTTCT	0.662													G|||	8	0.00159744	0.0	0.0014	5008	,	,		17358	0.0		0.003	False		,,,				2504	0.0041					ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(379-381)gcC>gcT		CDC42 effector protein (Rho GTPase binding) 4		G		4,4402	8.1+/-20.4	0,4,2199	47.0	48.0	48.0		381	-4.2	0.0	17	dbSNP_134	48	22,8578	16.0+/-53.3	0,22,4278	no	coding-synonymous	CDC42EP4	NM_012121.4		0,26,6477	AA,AG,GG		0.2558,0.0908,0.1999		127/357	71282259	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282259G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.381C>T	17.37:g.71282259G>A						CDC42EP4_ENST00000439510.2_Silent_p.A57A|CDC42EP4_ENST00000581014.1_Intron	p.A127A			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	775	-			127					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.381C>T	CCDS11695.1																																																																																				0.662	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		20	24	0	0	0	1	0	20	24				
HPDL	84842	broad.mit.edu	37	1	45793531	45793531	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:45793531G>A	ENST00000334815.3	+	1	987	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	237					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCCGGGGGCGACGACACGAC	0.652																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(709-711)gcG>gcA		4-hydroxyphenylpyruvate dioxygenase-like							62.0	68.0	66.0					1																	45793531		2203	4300	6503	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793531G>A	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.711G>A	1.37:g.45793531G>A							p.A237A	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	987	+	Acute lymphoblastic leukemia(166;0.155)		237					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.711G>A	CCDS519.1																																																																																				0.652	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		37	71	0	0	0	1	0	37	71				
VIL1	7429	broad.mit.edu	37	2	219296650	219296650	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219296650G>C	ENST00000248444.5	+	11	1261	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	VIL1_ENST00000392114.2_Missense_Mutation_p.K80N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	391	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCAGAAGATGGTAGATG	0.567																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1171-1173)aaG>aaC		villin 1							94.0	79.0	84.0					2																	219296650		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296650G>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1173G>C	2.37:g.219296650G>C	ENSP00000248444:p.Lys391Asn					VIL1_ENST00000392114.2_Missense_Mutation_p.K80N	p.K391N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1261	+		Renal(207;0.0474)	391			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1173G>C	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422829	0.43020	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.13657	2.57;2.57	5.09	3.17	0.36434	.	0.203849	0.39615	N	0.001313	T	0.05640	0.0148	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.32375	-0.9909	10	0.14656	T	0.56	-16.3152	6.5696	0.22531	0.1588:0.0:0.6959:0.1454	.	391	P09327	VILI_HUMAN	N	391;80	ENSP00000248444:K391N;ENSP00000375962:K80N	ENSP00000248444:K391N	K	+	3	2	VIL1	219004894	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	0.247000	0.18179	1.125000	0.41998	0.462000	0.41574	AAG		0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		3	19	0	0	0	1	0	3	19				
KRTAP5-11	440051	broad.mit.edu	37	11	71293601	71293601	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:71293601A>C	ENST00000398530.1	-	1	320	c.283T>G	c.(283-285)Tca>Gca	p.S95A	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	95	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccacagcctgaggaggagcag	0.627																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(283-285)Tca>Gca		keratin associated protein 5-11							80.0	101.0	94.0					11																	71293601		2200	4293	6493	SO:0001583	missense	440051					keratin filament		g.chr11:71293601A>C	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.283T>G	11.37:g.71293601A>C	ENSP00000381541:p.Ser95Ala					AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S95A	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	320	-			95			6 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000398530.1	37	c.283T>G	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	2.550	-0.304394	0.05495	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.01527	4.8	1.76	0.581	0.17407	.	.	.	.	.	T	0.03695	0.0105	M	0.87900	2.915	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.29731	-1.0002	9	0.59425	D	0.04	.	4.8613	0.13585	0.8126:0.0:0.1873:0.0	.	95	Q6L8G4	KR511_HUMAN	A	95	ENSP00000381541:S95A	ENSP00000365718:S95A	S	-	1	0	KRTAP5-11	70971249	0.313000	0.24554	0.089000	0.20774	0.094000	0.18550	0.101000	0.15251	0.146000	0.19002	0.363000	0.22086	TCA		0.627	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		36	101	0	0	0	1	0	36	101				
FSTL5	56884	broad.mit.edu	37	4	162307078	162307078	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:162307078C>T	ENST00000306100.5	-	16	2801	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	FSTL5_ENST00000427802.2_Missense_Mutation_p.E779K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.E788K|FSTL5_ENST00000536695.1_Missense_Mutation_p.E788K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	789						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGCCATTCTTCTGCCTTGAGT	0.468																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2365-2367)Gaa>Aaa		follistatin-like 5							225.0	200.0	209.0					4																	162307078		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307078C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2365G>A	4.37:g.162307078C>T	ENSP00000305334:p.Glu789Lys					FSTL5_ENST00000379164.4_Missense_Mutation_p.E788K|FSTL5_ENST00000427802.2_Missense_Mutation_p.E779K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.E788K	p.E789K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2801	-	all_hematologic(180;0.24)		789					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2365G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188567	0.38609	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.55	4.7	0.59300	.	0.556677	0.20514	N	0.090827	T	0.14313	0.0346	L	0.28115	0.83	0.29132	N	0.879558	B;B;B	0.30584	0.142;0.016;0.286	B;B;B	0.29077	0.063;0.026;0.098	T	0.10520	-1.0626	10	0.07030	T	0.85	.	15.4191	0.74997	0.0:0.8606:0.1394:0.0	.	779;788;789	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	789;788;779;788	ENSP00000305334:E789K;ENSP00000368462:E788K;ENSP00000389270:E779K;ENSP00000440409:E788K	ENSP00000305334:E789K	E	-	1	0	FSTL5	162526528	0.012000	0.17670	0.300000	0.25030	0.996000	0.88848	2.410000	0.44592	1.288000	0.44600	0.655000	0.94253	GAA		0.468	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		29	96	0	0	0	1	0	29	96				
SEC14L1	6397	broad.mit.edu	37	17	75187292	75187292	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:75187292C>T	ENST00000413679.2	+	5	546	c.243C>T	c.(241-243)gtC>gtT	p.V81V	SEC14L1_ENST00000443798.4_Silent_p.V81V|SEC14L1_ENST00000591437.1_Silent_p.V47V|SEC14L1_ENST00000430767.4_Silent_p.V81V|SEC14L1_ENST00000585618.1_Silent_p.V81V|SEC14L1_ENST00000431431.2_Silent_p.V47V|SEC14L1_ENST00000392476.2_Silent_p.V81V|SEC14L1_ENST00000436233.4_Silent_p.V81V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	81	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTTATTTTGTCCAGAAAAACT	0.338																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(241-243)gtC>gtT		SEC14-like 1 (S. cerevisiae)							110.0	110.0	110.0					17																	75187292		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75187292C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.243C>T	17.37:g.75187292C>T						SEC14L1_ENST00000392476.2_Silent_p.V81V|SEC14L1_ENST00000430767.4_Silent_p.V81V|SEC14L1_ENST00000443798.4_Silent_p.V81V|SEC14L1_ENST00000431431.2_Silent_p.V47V|SEC14L1_ENST00000585618.1_Silent_p.V81V|SEC14L1_ENST00000436233.4_Silent_p.V81V|SEC14L1_ENST00000591437.1_Silent_p.V47V	p.V81V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			5	546	+			81			PRELI/MSF1.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.243C>T	CCDS11752.1																																																																																				0.338	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		27	59	0	0	0	1	0	27	59				
DHX37	57647	broad.mit.edu	37	12	125432554	125432554	+	Intron	SNP	G	G	A	rs560318030		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:125432554G>A	ENST00000308736.2	-	26	3487				DHX37_ENST00000544745.1_Missense_Mutation_p.T942M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGGCTGACCGTGCACAAAGC	0.607																																						ENST00000544745.1																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2824-2826)aCg>aTg		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001627	intron_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125432554G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3388+75C>T	12.37:g.125432554G>A						DHX37_ENST00000308736.2_Intron	p.T942M			Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	2934	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2825C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	0.223	-1.027035	0.02045	.	.	ENSG00000150990	ENST00000544745	T	0.03441	3.93	0.43	-0.633	0.11519	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.09310	N	1	B	0.27594	0.182	B	0.12156	0.007	T	0.43310	-0.9399	8	0.46703	T	0.11	.	4.4486	0.11609	0.2821:0.0:0.7179:0.0	.	942	F5H3Y4	.	M	942	ENSP00000439009:T942M	ENSP00000439009:T942M	T	-	2	0	DHX37	123998507	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.549000	0.02182	-0.449000	0.07117	-0.448000	0.05591	ACG		0.607	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		10	19	0	0	0	1	0	10	19				
GON4L	54856	broad.mit.edu	37	1	155723033	155723033	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:155723033G>T	ENST00000368331.1	-	29	5852	c.5804C>A	c.(5803-5805)aCt>aAt	p.T1935N	GON4L_ENST00000271883.5_Missense_Mutation_p.T1935N|GON4L_ENST00000437809.1_Missense_Mutation_p.T1935N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1935					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCTGACAGTCCTGCTCTG	0.562																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(5803-5805)aCt>aAt		gon-4-like (C. elegans)							91.0	101.0	98.0					1																	155723033		2076	4203	6279	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155723033G>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5804C>A	1.37:g.155723033G>T	ENSP00000357315:p.Thr1935Asn					GON4L_ENST00000271883.5_Missense_Mutation_p.T1935N|GON4L_ENST00000368331.1_Missense_Mutation_p.T1935N	p.T1935N			Q3T8J9	GON4L_HUMAN			29	5926	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1935					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.5804C>A		.	.	.	.	.	.	.	.	.	.	G	11.00	1.510940	0.27036	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10477	2.87;2.87;2.87	5.28	4.37	0.52481	.	0.805869	0.11344	N	0.573776	T	0.04182	0.0116	L	0.27053	0.805	0.09310	N	1	P;P	0.42409	0.671;0.779	B;P	0.44359	0.261;0.447	T	0.37957	-0.9683	10	0.42905	T	0.14	.	9.3139	0.37921	0.1649:0.0:0.8351:0.0	.	1935;1935	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	N	1935	ENSP00000396117:T1935N;ENSP00000357315:T1935N;ENSP00000271883:T1935N	ENSP00000271883:T1935N	T	-	2	0	GON4L	153989657	0.020000	0.18652	0.099000	0.21106	0.119000	0.20118	1.550000	0.36223	1.469000	0.48083	-0.266000	0.10368	ACT		0.562	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		11	75	1	0	0.00010058	1	0.000105609	11	75				
TMEM130	222865	broad.mit.edu	37	7	98446303	98446303	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:98446303A>T	ENST00000416379.2	-	7	1026	c.1022T>A	c.(1021-1023)gTc>gAc	p.V341D	TMEM130_ENST00000339375.4_Missense_Mutation_p.V341D|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000345589.4_Missense_Mutation_p.V239D|TMEM130_ENST00000546258.1_Missense_Mutation_p.V322D|TMEM130_ENST00000450876.1_Missense_Mutation_p.V257D			Q8N3G9	TM130_HUMAN	transmembrane protein 130	341						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCAAAGACAGCCGGCTG	0.498																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(769-771)gTc>gAc		transmembrane protein 130							154.0	138.0	144.0					7																	98446303		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98446303A>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1022T>A	7.37:g.98446303A>T	ENSP00000413163:p.Val341Asp					TMEM130_ENST00000339375.4_Missense_Mutation_p.V341D|TMEM130_ENST00000546258.1_Missense_Mutation_p.V322D|TMEM130_ENST00000345589.4_Missense_Mutation_p.V239D|TMEM130_ENST00000416379.2_Missense_Mutation_p.V341D	p.V257D			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	2085	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		341					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.770T>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.988029	0.53934	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.15	5.15	0.70609	.	0.621647	0.14829	N	0.295964	T	0.22666	0.0547	L	0.54323	1.7	0.49582	D	0.999808	P;P;P;P	0.52061	0.946;0.693;0.95;0.946	P;P;P;P	0.50896	0.653;0.533;0.576;0.653	T	0.00695	-1.1606	10	0.54805	T	0.06	-19.5093	11.3844	0.49776	1.0:0.0:0.0:0.0	.	341;322;341;239	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	D	341;341;257;239;322	ENSP00000413163:V341D;ENSP00000341256:V341D;ENSP00000390200:V257D;ENSP00000330262:V239D;ENSP00000445869:V322D	ENSP00000341256:V341D	V	-	2	0	TMEM130	98284239	1.000000	0.71417	0.993000	0.49108	0.408000	0.30992	2.582000	0.46085	1.953000	0.56701	0.459000	0.35465	GTC		0.498	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		90	59	0	0	0	1	0	90	59				
NAV3	89795	broad.mit.edu	37	12	78512009	78512009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:78512009G>C	ENST00000397909.2	+	14	3145	c.2972G>C	c.(2971-2973)aGa>aCa	p.R991T	NAV3_ENST00000228327.6_Missense_Mutation_p.R991T|NAV3_ENST00000536525.2_Missense_Mutation_p.R991T|NAV3_ENST00000266692.7_Missense_Mutation_p.R991T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	991						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCTGGAGAAGAGGCATGTCT	0.547										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2971-2973)aGa>aCa		neuron navigator 3							64.0	67.0	66.0					12																	78512009		1908	4119	6027	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78512009G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2972G>C	12.37:g.78512009G>C	ENSP00000381007:p.Arg991Thr	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.R991T|NAV3_ENST00000228327.6_Missense_Mutation_p.R991T|NAV3_ENST00000536525.2_Missense_Mutation_p.R991T	p.R991T			Q8IVL0	NAV3_HUMAN			14	3145	+			991					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2972G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.931005|4.931005	0.92389|0.92389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.42172	.|U	.|0.000755	T|T	0.58736|0.58736	0.2143|0.2143	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.89917	.|0.942;1.0;0.996	.|P;D;D	.|0.83275	.|0.474;0.996;0.99	T|T	0.59096|0.59096	-0.7518|-0.7518	5|10	.|0.87932	.|D	.|0	-26.3374|-26.3374	20.1542|20.1542	0.98100|0.98100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|991;991;991	.|E7EUC6;Q8IVL0;Q8IVL0-2	.|.;NAV3_HUMAN;.	N|T	62|991	.|ENSP00000446132:R991T;ENSP00000381007:R991T;ENSP00000228327:R991T;ENSP00000266692:R991T	.|ENSP00000228327:R991T	K|R	+|+	3|2	2|0	NAV3|NAV3	77036140|77036140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.188000|9.188000	0.94921|0.94921	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.547	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	66	0	0	0	1	0	15	66				
FAT1	2195	broad.mit.edu	37	4	187630588	187630588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630588G>A	ENST00000441802.2	-	2	603	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			1	Substitution - Nonsense(1)	p.R132*(1)	upper_aerodigestive_tract(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(394-396)Cga>Tga		FAT atypical cadherin 1							146.0	152.0	150.0					4																	187630588		2075	4225	6300	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630588G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.394C>T	4.37:g.187630588G>A	ENSP00000406229:p.Arg132*	HNSCC(5;0.00058)					p.R132*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	603	-			132			Cadherin 1.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.394C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617110	0.96649	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.5053	0.90894	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000260147:R132X	R	-	1	2	FAT1	187867582	1.000000	0.71417	0.586000	0.28679	0.454000	0.32378	4.777000	0.62361	2.704000	0.92352	0.591000	0.81541	CGA		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	123	0	0	0	1	0	20	123				
KIAA1045	23349	broad.mit.edu	37	9	34977143	34977143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:34977143C>T	ENST00000242315.3	+	6	995	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R305W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	305							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTCCTGGCTCGGGGCAGTGG	0.597																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(913-915)Cgg>Tgg		KIAA1045							49.0	54.0	52.0					9																	34977143		1901	4108	6009	SO:0001583	missense	23349						calcium ion binding	g.chr9:34977143C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.913C>T	9.37:g.34977143C>T	ENSP00000242315:p.Arg305Trp					KIAA1045_ENST00000544237.1_Missense_Mutation_p.R305W|KIAA1045_ENST00000476115.2_3'UTR	p.R305W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		6	995	+			305					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.913C>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438607	0.25900	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	4.72	0.725	0.18242	.	0.841724	0.10506	N	0.666792	T	0.24851	0.0603	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	9	0.38643	T	0.18	0.045	4.2218	0.10561	0.1592:0.5845:0.0:0.2564	.	305	Q9UPV7	K1045_HUMAN	W	305	.	ENSP00000242315:R305W	R	+	1	2	KIAA1045	34967143	0.000000	0.05858	0.000000	0.03702	0.665000	0.39181	1.029000	0.30140	-0.031000	0.13781	0.655000	0.94253	CGG		0.597	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		23	60	0	0	0	1	0	23	60				
ASB2	51676	broad.mit.edu	37	14	94405625	94405625	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405625G>A	ENST00000315988.4	-	6	1790	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ASB2_ENST00000555019.1_Silent_p.I482I|ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	434					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGCGAACATGATGGTGGCGG	0.657																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1444-1446)atC>atT		ankyrin repeat and SOCS box containing 2							57.0	58.0	58.0					14																	94405625		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94405625G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1302C>T	14.37:g.94405625G>A						ASB2_ENST00000315988.4_Silent_p.I434I	p.I482I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	8	1876	-		all_cancers(154;0.13)	434					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.1446C>T	CCDS9915.1																																																																																				0.657	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			12	105	0	0	0	1	0	12	105				
LILRA6	79168	broad.mit.edu	37	19	54744756	54744756	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:54744756G>A	ENST00000396365.2	-	5	945	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LILRA6_ENST00000245621.5_Silent_p.L302L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Silent_p.L302L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.L302L	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	302	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTCGGAGGAGAGGTTGTGTG	0.682																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(904-906)ctC>ctT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							49.0	61.0	57.0					19																	54744756		2203	4300	6503	SO:0001819	synonymous_variant	79168							g.chr19:54744756G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.906C>T	19.37:g.54744756G>A						LILRA6_ENST00000419410.2_Silent_p.L302L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.L302L|LILRA6_ENST00000396365.2_Silent_p.L302L|LILRB3_ENST00000407860.2_Intron	p.L302L						GBM - Glioblastoma multiforme(193;0.105)	5	954	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.906C>T	CCDS42610.1																																																																																				0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		7	89	0	0	0	1	0	7	89				
NRK	203447	broad.mit.edu	37	X	105153550	105153550	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:105153550G>A	ENST00000243300.9	+	13	2220	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	NRK_ENST00000428173.2_Silent_p.L640L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	639					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCAAGCACTGATAGAGGGAC	0.488										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1918-1920)ctG>ctA		Nik related kinase							56.0	52.0	54.0					X																	105153550		1915	4114	6029	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153550G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1917G>A	X.37:g.105153550G>A		HNSCC(51;0.14)				NRK_ENST00000243300.9_Silent_p.L639L	p.L640L			Q7Z2Y5	NRK_HUMAN			13	2223	+			639					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.1920G>A																																																																																					0.488	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	7	0	0	0	1	0	6	7				
ACAD10	80724	broad.mit.edu	37	12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	rs142030532	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:112194215G>A	ENST00000313698.4	+	21	3273	c.3118G>A	c.(3118-3120)Gac>Aac	p.D1040N	RP11-162P23.2_ENST00000546840.2_Intron|ACAD10_ENST00000455480.2_Missense_Mutation_p.D1071N	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1040						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGCTTTGCCGACGGCCCTGA	0.647													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		17267	0.0		0.002	False		,,,				2504	0.0					ENST00000455480.2																			1	Substitution - Missense(1)	p.D1040N(1)	urinary_tract(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(3211-3213)Gac>Aac		acyl-CoA dehydrogenase family, member 10		G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	35.0	34.0	34.0		3211,3118	5.7	0.2	12	dbSNP_134	34	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	23,23	0,7,6495	AA,AG,GG		0.0582,0.0454,0.0538	probably-damaging,probably-damaging	1071/1091,1040/1060	112194215	7,12997	2203	4299	6502	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112194215G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.3118G>A	12.37:g.112194215G>A	ENSP00000325137:p.Asp1040Asn					ACAD10_ENST00000313698.4_Missense_Mutation_p.D1040N|RP11-162P23.2_ENST00000546840.2_Intron	p.D1071N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			22	3388	+			1040					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.3211G>A	CCDS31903.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	24.8	4.568288	0.86439	4.54E-4	5.82E-4	ENSG00000111271	ENST00000455480;ENST00000313698	D;D	0.96168	-3.93;-3.93	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.979	D	0.99537	1.0962	10	0.87932	D	0	.	18.5671	0.91120	0.0:0.0:1.0:0.0	.	1071;1040	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	N	1071;1040	ENSP00000389813:D1071N;ENSP00000325137:D1040N	ENSP00000325137:D1040N	D	+	1	0	ACAD10	110678598	1.000000	0.71417	0.239000	0.24122	0.637000	0.38172	5.218000	0.65257	2.684000	0.91462	0.462000	0.41574	GAC		0.647	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	15	0	0	0	1	0	4	15				
NOP9	161424	broad.mit.edu	37	14	24774225	24774225	+	Missense_Mutation	SNP	G	G	A	rs142732440		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:24774225G>A	ENST00000267425.3	+	10	1928	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	612							poly(A) RNA binding (GO:0044822)										TTCCTAAAGCGGCGAGAGGCT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					ENST00000267425.3																			0											c.(1834-1836)cGg>cAg		NOP9 nucleolar protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	47.0	48.0		1835	4.9	0.9	14	dbSNP_134	48	0,8600		0,0,4300	no	missense	C14orf21	NM_174913.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	612/637	24774225	1,13005	2203	4300	6503	SO:0001583	missense	161424							g.chr14:24774225G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1835G>A	14.37:g.24774225G>A	ENSP00000267425:p.Arg612Gln					NOP9_ENST00000396802.3_3'UTR	p.R612Q	NM_174913.1	NP_777573.1					10	1928	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.1835G>A	CCDS9624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.03	3.284465	0.59867	2.27E-4	0.0	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.34859	1.34	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B	0.28128	0.201	B	0.18263	0.021	T	0.04400	-1.0954	10	0.31617	T	0.26	-8.2106	12.2959	0.54847	0.0799:0.0:0.9201:0.0	.	612	Q86U38	CN021_HUMAN	Q	612;163	ENSP00000267425:R612Q	ENSP00000267425:R612Q	R	+	2	0	C14orf21	23844065	1.000000	0.71417	0.886000	0.34754	0.640000	0.38277	3.785000	0.55424	1.429000	0.47314	0.655000	0.94253	CGG		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			3	22	0	0	0	1	0	3	22				
ZNF599	148103	broad.mit.edu	37	19	35250735	35250735	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:35250735G>C	ENST00000329285.8	-	4	1344	c.971C>G	c.(970-972)tCc>tGc	p.S324C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAATGAGGAGCTGTAGTA	0.433																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(970-972)tCc>tGc		zinc finger protein 599							66.0	69.0	68.0					19																	35250735		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250735G>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.971C>G	19.37:g.35250735G>C	ENSP00000333802:p.Ser324Cys						p.S324C	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1344	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		324					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.971C>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	5.458	0.269658	0.10349	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.08282	3.11	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.82630	2.6	0.09310	N	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.04386	-1.0955	9	0.66056	D	0.02	.	5.9283	0.19124	0.1448:0.0:0.8552:0.0	.	324	Q96NL3	ZN599_HUMAN	C	323;324;98	ENSP00000333802:S324C	ENSP00000333802:S324C	S	-	2	0	ZNF599	39942575	0.000000	0.05858	0.035000	0.18076	0.143000	0.21401	0.074000	0.14662	1.935000	0.56089	0.491000	0.48974	TCC		0.433	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		18	34	0	0	0	1	0	18	34				
TRDV2	28517	broad.mit.edu	37	14	22891900	22891900	+	RNA	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:22891900A>G	ENST00000390469.2	+	0	387				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA					T cell receptor delta variable 2																		ATATACCGAGAAAAGGACATC	0.438																																						ENST00000514473.2																			0																				99.0	98.0	98.0					14																	22891900		1907	4120	6027			0							g.chr14:22891900A>G	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22891900A>G						TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA								0	225	-									RNA	SNP	ENST00000390469.2	37																																																																																						0.438	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		14	35	0	0	0	1	0	14	35				
PDE4DIP	9659	broad.mit.edu	37	1	144886198	144886198	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:144886198C>T	ENST00000369354.3	-	23	3225	c.3036G>A	c.(3034-3036)gaG>gaA	p.E1012E	PDE4DIP_ENST00000530740.1_Silent_p.E1149E|PDE4DIP_ENST00000369356.4_Silent_p.E1012E|PDE4DIP_ENST00000313382.9_Silent_p.E1078E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.E1149E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1012					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGTGGAACTCAGCCCTCA	0.512			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3445-3447)gaG>gaA		phosphodiesterase 4D interacting protein							208.0	199.0	202.0					1																	144886198		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886198C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3036G>A	1.37:g.144886198C>T						PDE4DIP_ENST00000530740.1_Silent_p.E1149E|PDE4DIP_ENST00000369354.3_Silent_p.E1012E|PDE4DIP_ENST00000369356.4_Silent_p.E1012E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.E1078E	p.E1149E			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	26	3485	-			1012					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3447G>A	CCDS30824.1																																																																																				0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		26	196	0	0	0	1	0	26	196				
TBCE	6905	broad.mit.edu	37	1	235606187	235606187	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:235606187C>T	ENST00000366601.3	+	15	1536	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	TBCE_ENST00000406207.1_Missense_Mutation_p.H454Y|TBCE_ENST00000543662.1_Missense_Mutation_p.H505Y|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	454					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATACCCTCATCAACTTGA	0.373																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(1513-1515)Cat>Tat		tubulin folding cofactor E							67.0	70.0	69.0					1																	235606187		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235606187C>T	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1360C>T	1.37:g.235606187C>T	ENSP00000355560:p.His454Tyr					TBCE_ENST00000366601.3_Missense_Mutation_p.H454Y|TBCE_ENST00000406207.1_Missense_Mutation_p.H454Y|TBCE_ENST00000472011.1_3'UTR	p.H505Y			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		16	1619	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	454					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.1513C>T	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298488	0.10622	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.08008	3.14;3.14;3.14	5.36	-2.78	0.05859	.	0.371682	0.32372	N	0.006189	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28552	0.215;0.024;0.007	B;B;B	0.18561	0.022;0.005;0.007	T	0.18999	-1.0319	10	0.54805	T	0.06	-4.6726	7.7265	0.28763	0.2476:0.4763:0.2761:0.0	.	505;454;454	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	Y	454;454;505	ENSP00000355560:H454Y;ENSP00000384571:H454Y;ENSP00000439170:H505Y	ENSP00000355560:H454Y	H	+	1	0	TBCE	233672810	0.357000	0.24938	0.000000	0.03702	0.480000	0.33159	0.255000	0.18333	-1.076000	0.03125	-2.193000	0.00311	CAT		0.373	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		5	24	0	0	0	1	0	5	24				
SLC2A14	144195	broad.mit.edu	37	12	7982437	7982437	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:7982437G>C	ENST00000543909.1	-	10	1266	c.507C>G	c.(505-507)atC>atG	p.I169M	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I146M|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I169M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I184M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I146M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	169					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CAGTAGGCGAGATCTCTCCAA	0.502																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(505-507)atC>atG		solute carrier family 2 (facilitated glucose transporter), member 14							82.0	75.0	77.0					12																	7982437		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982437G>C	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.507C>G	12.37:g.7982437G>C	ENSP00000440480:p.Ile169Met					SLC2A14_ENST00000340749.5_Missense_Mutation_p.I146M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I169M|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I184M|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I146M	p.I169M			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1266	-			169					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.507C>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724509	0.30593	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	3.41	-0.148	0.13424	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.670272	0.15247	N	0.272579	D	0.86130	0.5859	M	0.83312	2.635	0.29345	N	0.865773	D;D;D;P	0.60575	0.982;0.974;0.988;0.784	P;P;P;P	0.61940	0.896;0.886;0.879;0.626	T	0.78954	-0.2000	10	0.62326	D	0.03	.	6.3097	0.21159	0.0:0.4196:0.2761:0.3043	.	184;60;146;169	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	M	146;169;146;169;60;60;184;146;146	ENSP00000340450:I146M;ENSP00000440480:I169M;ENSP00000407287:I146M;ENSP00000379834:I169M;ENSP00000440492:I60M;ENSP00000443903:I60M;ENSP00000445929:I184M;ENSP00000440043:I146M;ENSP00000438312:I146M	ENSP00000340450:I146M	I	-	3	3	SLC2A14	7873704	0.012000	0.17670	0.850000	0.33497	0.519000	0.34347	-1.311000	0.02723	-0.602000	0.05775	0.460000	0.39030	ATC		0.502	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		18	30	0	0	0	1	0	18	30				
FAT1	2195	broad.mit.edu	37	4	187630671	187630671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630671delT	ENST00000441802.2	-	2	520	c.311delA	c.(310-312)aatfs	p.N104fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCTGTATTTCCTCCTTT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(310-312)atfs		FAT atypical cadherin 1							101.0	97.0	98.0					4																	187630671		1896	4121	6017	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630671delT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.311delA	4.37:g.187630671delT	ENSP00000406229:p.Asn104fs	HNSCC(5;0.00058)					p.N104fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	520	-			104			Cadherin 1.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.311delA	CCDS47177.1																																																																																				0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		30	39						30	39	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268989	52268991	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:52268989_52268991delCTT	ENST00000442253.2	+	2	1152_1154	c.978_980delCTT	c.(976-981)tccttc>tcc	p.F329del	PAQR8_ENST00000360726.3_In_Frame_Del_p.F329del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	329					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGCCTCTCCTTCTTCTTCCTG	0.616																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(976-981)tcc>tc		progestin and adipoQ receptor family member VIII																																				SO:0001651	inframe_deletion	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268989_52268991delCTT	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.978_980delCTT	6.37:g.52268995_52268997delCTT	ENSP00000406197:p.Phe329del					PAQR8_ENST00000360726.3_In_Frame_Del_p.SF326del	p.SF326del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1152_1154	+	Lung NSC(77;0.0875)		326					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	In_Frame_Del	DEL	ENST00000442253.2	37	c.978_980delCTT	CCDS4941.1																																																																																				0.616	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		12	18						12	18	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23619301	23619302	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:23619301_23619302delGA	ENST00000415083.2	-	6	781_782	c.726_727delTC	c.(724-729)aatcatfs	p.NH242fs	SS18_ENST00000545952.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.NH242fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.NH219fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.NH160fs|SS18_ENST00000585241.1_5'Flank	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	242	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCATCATATGATTGCCTTGGT	0.441			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(724-729)aaatfs		synovial sarcoma translocation, chromosome 18																																				SO:0001589	frameshift_variant	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619301_23619302delGA	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.726_727delTC	18.37:g.23619301_23619302delGA	ENSP00000414516:p.Asn242fs					SS18_ENST00000545952.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.NH219fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.NH160fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.NH242fs	p.NH242fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			6	781_782	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		242			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Frame_Shift_Del	DEL	ENST00000415083.2	37	c.726_727delTC	CCDS32807.1																																																																																				0.441	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			60	111						60	111	---	---	---	---
