#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
GRIN2B	2904	broad.mit.edu	37	12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	ENST00000609686.1	-	13	4632	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1475					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAAGTTTCTCATAAACATGC	0.498																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(4423-4425)Gag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						137.0	136.0	137.0					12																	13715749		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715749C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4423G>A	12.37:g.13715749C>T	ENSP00000477455:p.Glu1475Lys						p.E1475K	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4632	-			1475					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4423G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244525	0.22796	.	.	ENSG00000150086	ENST00000279593	T	0.12039	2.72	4.83	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.16656	0.425	0.80722	D	1	B	0.25486	0.127	B	0.34489	0.184	T	0.03695	-1.1012	10	0.02654	T	1	.	18.1355	0.89618	0.0:1.0:0.0:0.0	.	1475	Q13224	NMDE2_HUMAN	K	1475	ENSP00000279593:E1475K	ENSP00000279593:E1475K	E	-	1	0	GRIN2B	13607016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.504000	0.84457	0.655000	0.94253	GAG		0.498	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	109	0	0	0	1	0	13	109				
CHST10	9486	broad.mit.edu	37	2	101009860	101009860	+	Silent	SNP	C	C	T	rs371699053		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	ENST00000264249.3	-	7	1303	c.918G>A	c.(916-918)ccG>ccA	p.P306P	CHST10_ENST00000542617.1_Silent_p.P354P|CHST10_ENST00000409701.1_Silent_p.P306P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	306					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(916-918)ccG>ccA		carbohydrate sulfotransferase 10		C		0,4406		0,0,2203	160.0	134.0	143.0		918	-10.6	0.5	2		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHST10	NM_004854.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		306/357	101009860	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009860C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.918G>A	2.37:g.101009860C>T						CHST10_ENST00000542617.1_Silent_p.P354P|CHST10_ENST00000409701.1_Silent_p.P306P	p.P306P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1303	-			306					Q53T18	Silent	SNP	ENST00000264249.3	37	c.918G>A	CCDS2047.1																																																																																				0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		8	89	0	0	0	1	0	8	89				
PPP1R13L	10848	broad.mit.edu	37	19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	ENST00000418234.2	-	2	109	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	11					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(31-33)Gac>Aac		protein phosphatase 1, regulatory subunit 13 like							32.0	36.0	34.0					19																	45901546		2202	4300	6502	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901546C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.31G>A	19.37:g.45901546C>T	ENSP00000403902:p.Asp11Asn					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	109	-		all_neural(266;0.224)|Ovarian(192;0.231)	11					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.31G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539873	0.45176	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.03	1.77	0.24775	.	0.533017	0.19854	N	0.104580	T	0.38134	0.1029	N	0.19112	0.55	0.21627	N	0.999617	B;B	0.24618	0.008;0.107	B;B	0.24394	0.012;0.053	T	0.30387	-0.9980	10	0.62326	D	0.03	.	7.0196	0.24907	0.0:0.7791:0.0:0.2209	.	11;11	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	N	11	ENSP00000403902:D11N;ENSP00000354218:D11N	ENSP00000354218:D11N	D	-	1	0	PPP1R13L	50593386	0.800000	0.28916	0.611000	0.29010	0.919000	0.55068	1.245000	0.32790	0.425000	0.26087	0.563000	0.77884	GAC		0.706	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	32	0	0	0	1	0	5	32				
SSH3	54961	broad.mit.edu	37	11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	ENST00000308127.4	+	8	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	295					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(883-885)Gag>Cag		slingshot protein phosphatase 3							54.0	55.0	54.0					11																	67075408		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075408G>C	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.883G>C	11.37:g.67075408G>C	ENSP00000312081:p.Glu295Gln					SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	p.E295Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	1061	+			295					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.883G>C	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642964	0.14451	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.17854	3.81;3.86;2.25	4.44	4.44	0.53790	DEK, C-terminal (1);	0.180290	0.36482	N	0.002569	T	0.15522	0.0374	L	0.31065	0.9	0.40101	D	0.976378	B;B	0.33637	0.42;0.226	B;B	0.36186	0.219;0.193	T	0.09907	-1.0653	10	0.32370	T	0.25	-22.2203	16.2203	0.82255	0.0:0.0:1.0:0.0	.	149;295	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	295;295;47	ENSP00000312081:E295Q;ENSP00000365948:E295Q;ENSP00000433902:E47Q	ENSP00000312081:E295Q	E	+	1	0	SSH3	66831984	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	4.133000	0.57983	2.205000	0.71048	0.462000	0.41574	GAG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	34	0	0	0	1	0	4	34				
WDR47	22911	broad.mit.edu	37	1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	ENST00000369962.3	-	3	427	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q69*			O94967	WDR47_HUMAN	WD repeat domain 47	69	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCTAGAGGCTGAATGAACTGA	0.308																																						ENST00000369965.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(205-207)Cag>Tag		WD repeat domain 47							68.0	73.0	72.0					1																	109560177		2203	4300	6503	SO:0001587	stop_gained	22911							g.chr1:109560177G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.205C>T	1.37:g.109560177G>A	ENSP00000358979:p.Gln69*					WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	p.Q69*	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	3	465	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	69			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.205C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221293	0.95139	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0544	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000358979:Q69X	Q	-	1	0	WDR47	109361700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		5	49	0	0	0	1	0	5	49				
ZNF560	147741	broad.mit.edu	37	19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	ENST00000301480.4	-	10	1078	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D289Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383																																						ENST00000301480.4																			1	Substitution - Missense(1)	p.D289Y(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(865-867)Gat>Cat		zinc finger protein 560							122.0	112.0	115.0					19																	9578758		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578758C>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.865G>C	19.37:g.9578758C>G	ENSP00000301480:p.Asp289His						p.D289H	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1078	-			289					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.865G>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693278	0.30052	.	.	ENSG00000198028	ENST00000301480	T	0.15718	2.4	1.91	0.847	0.18961	.	.	.	.	.	T	0.27524	0.0676	L	0.49126	1.545	0.09310	N	1	D	0.67145	0.996	P	0.61800	0.894	T	0.08576	-1.0715	9	0.87932	D	0	.	6.4628	0.21966	0.0:0.8305:0.0:0.1695	.	289	Q96MR9	ZN560_HUMAN	H	289	ENSP00000301480:D289H	ENSP00000301480:D289H	D	-	1	0	ZNF560	9439758	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.657000	0.24963	0.351000	0.24027	0.491000	0.48974	GAT		0.383	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		8	80	0	0	0	1	0	8	80				
SLC25A45	283130	broad.mit.edu	37	11	65144371	65144371	+	Silent	SNP	C	C	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	ENST00000527174.1	-	5	571	c.516G>T	c.(514-516)ctG>ctT	p.L172L	SLC25A45_ENST00000294187.6_Silent_p.L130L|SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000417511.2_Silent_p.L130L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000526432.1_Silent_p.L110L|SLC25A45_ENST00000360662.3_Silent_p.L148L|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	172					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(388-390)ctG>ctT		solute carrier family 25, member 45							76.0	80.0	79.0					11																	65144371		1966	4145	6111	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144371C>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.516G>T	11.37:g.65144371C>A						SLC25A45_ENST00000526432.1_Silent_p.L110L|SLC25A45_ENST00000294187.6_Silent_p.L130L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000360662.3_Silent_p.L148L|SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000527174.1_Silent_p.L172L	p.L130L	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			9	1524	-			172					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.390G>T	CCDS41670.1																																																																																				0.652	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		20	124	1	0	1.01871e-10	1	1.08897e-10	20	124				
STT3A	3703	broad.mit.edu	37	11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	ENST00000529196.1	+	19	2314	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000392708.4_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	703					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(2107-2109)tCa>tTa		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							80.0	73.0	75.0					11																	125490695		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125490695C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.2108C>T	11.37:g.125490695C>T	ENSP00000436962:p.Ser703Leu					STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000529196.1_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron	p.S703L	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	18	2267	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	703					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.2108C>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245237	0.80024	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	N	0.16743	0.435	0.80722	D	1	P;D	0.54601	0.909;0.967	P;P	0.60789	0.879;0.879	T	0.66571	-0.5890	9	0.72032	D	0.01	-8.6785	19.8925	0.96935	0.0:1.0:0.0:0.0	.	611;703	B4DJ24;P46977	.;STT3A_HUMAN	L	703;703;611	.	ENSP00000376472:S703L	S	+	2	0	STT3A	124995905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.453000	0.80700	2.786000	0.95864	0.563000	0.77884	TCA		0.338	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	37	0	0	0	1	0	4	37				
EIF2AK2	5610	broad.mit.edu	37	2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	ENST00000233057.4	-	17	1913	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	531	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTATTTCAGATGTGTTA	0.383																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(1591-1593)Gaa>Aaa		eukaryotic translation initiation factor 2-alpha kinase 2							146.0	136.0	139.0					2																	37334481		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37334481C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1591G>A	2.37:g.37334481C>T	ENSP00000233057:p.Glu531Lys					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K	p.E531K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			17	1913	-		all_hematologic(82;0.248)	531			Protein kinase.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.1591G>A	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827123	0.71143	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.56275	0.47;0.47;0.47	5.18	0.17	0.15021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.578922	0.16560	N	0.209093	T	0.47451	0.1446	L	0.48642	1.525	0.09310	N	0.999996	P;P	0.52692	0.955;0.519	P;B	0.50049	0.629;0.188	T	0.37478	-0.9704	10	0.59425	D	0.04	-13.6678	4.6237	0.12467	0.1456:0.5162:0.0:0.3382	.	531;490	P19525;E9PC80	E2AK2_HUMAN;.	K	531;531;490	ENSP00000233057:E531K;ENSP00000378559:E531K;ENSP00000385014:E490K	ENSP00000233057:E531K	E	-	1	0	EIF2AK2	37187985	0.137000	0.22531	0.054000	0.19295	0.483000	0.33249	0.284000	0.18864	0.033000	0.15463	-0.253000	0.11424	GAA		0.383	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		4	58	0	0	0	1	0	4	58				
KMT2C	58508	broad.mit.edu	37	7	151962127	151962127	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:151962127A>T	ENST00000262189.6	-	8	1398	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S	KMT2C_ENST00000355193.2_Missense_Mutation_p.C394S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	394					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTTACTTGCAGTTCTGGCAC	0.408																																						ENST00000355193.2																			0											c.(1180-1182)Tgc>Agc		lysine (K)-specific methyltransferase 2C							191.0	177.0	182.0					7																	151962127		2203	4297	6500	SO:0001583	missense	58508							g.chr7:151962127A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1180T>A	7.37:g.151962127A>T	ENSP00000262189:p.Cys394Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.C394S	p.C394S							8	1398	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1180T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596204	0.66332	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99954	-8.82;-8.82	4.53	4.53	0.55603	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.46145	U	0.000314	D	0.99964	0.9986	H	0.98295	4.195	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96248	0.9181	10	0.87932	D	0	.	14.1658	0.65475	1.0:0.0:0.0:0.0	.	394	Q8NEZ4	MLL3_HUMAN	S	394	ENSP00000262189:C394S;ENSP00000347325:C394S	ENSP00000262189:C394S	C	-	1	0	MLL3	151593060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	1.791000	0.52520	0.377000	0.23210	TGC		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	253	0	0	0	1	0	11	253				
RNF13	11342	broad.mit.edu	37	3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	ENST00000344229.3	+	10	1444	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_ENST00000392894.3_Missense_Mutation_p.E248K|RNF13_ENST00000361785.6_Missense_Mutation_p.E129K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	248					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(742-744)Gaa>Aaa		ring finger protein 13							222.0	226.0	225.0					3																	149677884		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149677884G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.742G>A	3.37:g.149677884G>A	ENSP00000341361:p.Glu248Lys					RNF13_ENST00000361785.6_Missense_Mutation_p.E129K|RNF13_ENST00000392894.3_Missense_Mutation_p.E248K	p.E248K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1444	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	248					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.742G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338421	0.95783	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000467977;ENST00000543506;ENST00000361785;ENST00000482083	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	N	0.11651	0.15	0.80722	D	1	P;B	0.49696	0.927;0.425	P;B	0.58620	0.842;0.414	T	0.08472	-1.0720	10	0.02654	T	1	-32.1258	20.6208	0.99490	0.0:0.0:1.0:0.0	.	129;248	B3KR12;O43567	.;RNF13_HUMAN	K	248;248;129;129;248;129;129	ENSP00000376628:E248K;ENSP00000341361:E248K;ENSP00000420667:E129K;ENSP00000418308:E129K;ENSP00000355268:E129K;ENSP00000418863:E129K	ENSP00000341361:E248K	E	+	1	0	RNF13	151160574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.882000	0.98803	0.655000	0.94253	GAA		0.323	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		14	116	0	0	0	1	0	14	116				
ASTN1	460	broad.mit.edu	37	1	176852036	176852036	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	ENST00000367654.3	-	20	3556	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000424564.2_Silent_p.I1107I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1115	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3343-3345)atC>atT		astrotactin 1							170.0	144.0	153.0					1																	176852036		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852036G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3345C>T	1.37:g.176852036G>A						ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000424564.2_Silent_p.I1107I	p.I1115I			O14525	ASTN1_HUMAN			20	3358	-			1115			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3345C>T																																																																																					0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	46	0	0	0	1	0	7	46				
TGFBRAP1	9392	broad.mit.edu	37	2	105924339	105924339	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	ENST00000393359.2	-	2	846	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_ENST00000258449.1_Silent_p.I140I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	140	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGACAGAGATGATGCAAACTT	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(418-420)atC>atT		transforming growth factor, beta receptor associated protein 1							134.0	137.0	136.0					2																	105924339		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924339G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.420C>T	2.37:g.105924339G>A						TGFBRAP1_ENST00000258449.1_Silent_p.I140I	p.I140I			Q8WUH2	TGFA1_HUMAN			2	846	-			140			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.420C>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		26	131	0	0	0	1	0	26	131				
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	ENST00000508661.1	+	1	73	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.F16I			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(46-48)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B7							141.0	140.0	140.0					4																	69962284		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284T>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46T>A	4.37:g.69962284T>A	ENSP00000427659:p.Phe16Ile					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.F16I	p.F16I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	92	+			16					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.46T>A		.	.	.	.	.	.	.	.	.	.	T	9.110	1.006360	0.19199	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60171	0.21;0.82	2.54	1.25	0.21368	.	0.425221	0.19424	U	0.114608	T	0.38268	0.1034	L	0.28192	0.835	0.09310	N	1	B;B	0.20368	0.044;0.012	B;B	0.25759	0.063;0.004	T	0.18967	-1.0320	9	.	.	.	.	5.9873	0.19442	0.2313:0.0:0.0:0.7687	.	16;16	E9PBP8;P16662	.;UD2B7_HUMAN	I	16	ENSP00000304811:F16I;ENSP00000427659:F16I	.	F	+	1	0	UGT2B7	69996873	0.036000	0.19791	0.000000	0.03702	0.038000	0.13279	2.489000	0.45285	0.183000	0.20059	0.260000	0.18958	TTT		0.418	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		33	67	0	0	0	1	0	33	67				
IDI2	91734	broad.mit.edu	37	10	1070568	1070568	+	Silent	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	ENST00000277517.1	-	2	160	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	32					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(94-96)ggT>ggC		isopentenyl-diphosphate delta isomerase 2							143.0	120.0	128.0					10																	1070568		2203	4300	6503	SO:0001819	synonymous_variant	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1070568A>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.96T>C	10.37:g.1070568A>G						IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	p.G32G	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	2	160	-		Colorectal(49;0.235)	32						Silent	SNP	ENST00000277517.1	37	c.96T>C	CCDS7055.1																																																																																				0.473	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		18	41	0	0	0	1	0	18	41				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	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.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	21	0	0	0	1	0	5	21				
WDR47	22911	broad.mit.edu	37	1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	ENST00000369962.3	-	3	418	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q66*			O94967	WDR47_HUMAN	WD repeat domain 47	66	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAATGAACTGAAGAACTTCA	0.308																																						ENST00000369965.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(196-198)Cag>Tag		WD repeat domain 47							67.0	72.0	70.0					1																	109560186		2203	4299	6502	SO:0001587	stop_gained	22911							g.chr1:109560186G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.196C>T	1.37:g.109560186G>A	ENSP00000358979:p.Gln66*					WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	p.Q66*	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	3	456	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	66			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.196C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216353	0.95104	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.1238	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000358979:Q66X	Q	-	1	0	WDR47	109361709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		4	48	0	0	0	1	0	4	48				
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	ENST00000307340.3	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000366943.2_Missense_Mutation_p.R4682T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14044-14046)aGa>aCa		Usher syndrome 2A (autosomal recessive, mild)							173.0	170.0	171.0					1																	215844402		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844402C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14045G>C	1.37:g.215844402C>G	ENSP00000305941:p.Arg4682Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T	p.R4682T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14431	-			4682			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14045G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021558	0.07634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.09	2.19	0.27852	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.605103	0.13682	U	0.370113	T	0.20820	0.0501	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18398	-1.0338	10	0.14252	T	0.57	.	1.4075	0.02283	0.1857:0.4565:0.1205:0.2373	.	4682	O75445	USH2A_HUMAN	T	4682	ENSP00000305941:R4682T;ENSP00000355910:R4682T	ENSP00000305941:R4682T	R	-	2	0	USH2A	213911025	0.004000	0.15560	0.003000	0.11579	0.029000	0.11900	2.083000	0.41615	0.259000	0.21709	0.557000	0.71058	AGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	106	0	0	0	1	0	10	106				
C6	729	broad.mit.edu	37	5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	ENST00000263413.3	-	2	405	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_ENST00000337836.5_Missense_Mutation_p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	47	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACCCACCTGTGTCTGCTCT	0.483																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(139-141)caC>caA		complement component 6							211.0	216.0	214.0					5																	41203192		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203192G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.141C>A	5.37:g.41203192G>T	ENSP00000263413:p.His47Gln					C6_ENST00000337836.5_Missense_Mutation_p.H47Q	p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			2	405	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	47			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.141C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990303	0.18966	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.50548	0.74;0.74;0.74	5.81	-3.77	0.04346	.	1.274360	0.04720	N	0.419149	T	0.17023	0.0409	N	0.02158	-0.66	0.09310	N	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.08269	-1.0730	10	0.23891	T	0.37	-23.6411	1.7424	0.02955	0.1858:0.18:0.3769:0.2573	.	47	P13671	CO6_HUMAN	Q	47	ENSP00000338861:H47Q;ENSP00000263413:H47Q;ENSP00000396565:H47Q	ENSP00000263413:H47Q	H	-	3	2	C6	41238949	0.000000	0.05858	0.944000	0.38274	0.768000	0.43524	-1.428000	0.02439	-0.420000	0.07427	-0.283000	0.09986	CAC		0.483	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			25	164	1	0	6.36457e-07	1	6.46891e-07	25	164				
ZNF165	7718	broad.mit.edu	37	6	28056396	28056396	+	Silent	SNP	T	T	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	ENST00000377325.1	+	4	1162	c.606T>C	c.(604-606)atT>atC	p.I202I	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	202					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(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(604-606)atT>atC		zinc finger protein 165							65.0	75.0	72.0					6																	28056396		2199	4300	6499	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056396T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.606T>C	6.37:g.28056396T>C							p.I202I	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1162	+			202						Silent	SNP	ENST00000377325.1	37	c.606T>C	CCDS4643.1																																																																																				0.363	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		33	74	0	0	0	1	0	33	74				
SFTPA2	729238	broad.mit.edu	37	10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	rs150273659	byFrequency	TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627									Pulmonary Fibrosis, Idiopathic				G|||	24	0.00479233	0.0045	0.0	5008	,	,		17841	0.0159		0.0	False		,,,				2504	0.002					ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(253-255)Cgt>Tgt		surfactant protein A2		G	CYS/ARG	33,4373		0,33,2170	108.0	121.0	117.0		253	2.9	1.0	10	dbSNP_134	117	10,8582		0,10,4286	no	missense	SFTPA2	NM_001098668.2	180	0,43,6456	AA,AG,GG		0.1164,0.749,0.3308	benign	85/249	81318681	43,12955	2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81318681G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.253C>T	10.37:g.81318681G>A	ENSP00000361400:p.Arg85Cys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	337	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		85			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.253C>T	CCDS41540.1	8	0.003663003663003663	1	0.0020325203252032522	0	0.0	7	0.012237762237762238	0	0.0	N	4.066	0.009984	0.07912	0.00749	0.001164	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.94417	-3.42;-3.42;-3.42	2.87	2.87	0.33458	.	0.455646	0.20973	N	0.082360	D	0.89757	0.6807	M	0.71036	2.16	0.26410	N	0.976274	B	0.09022	0.002	B	0.04013	0.001	D	0.83885	0.0281	10	0.40728	T	0.16	-0.1951	9.5435	0.39266	0.0:0.0:1.0:0.0	.	85	E3VLC8	.	C	85;51;85;85	ENSP00000361400:R85C;ENSP00000361402:R85C;ENSP00000397375:R85C	ENSP00000361400:R85C	R	-	1	0	SFTPA2	80988687	0.000000	0.05858	0.975000	0.42487	0.012000	0.07955	-0.048000	0.11944	1.329000	0.45376	0.423000	0.28283	CGT		0.627	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		8	137	0	0	0	1	0	8	137				
NPPA	4878	broad.mit.edu	37	1	11907290	11907290	+	Silent	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	ENST00000376480.3	-	2	428	c.330C>A	c.(328-330)ctC>ctA	p.L110L	NPPA_ENST00000376476.1_Silent_p.L60L|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	110					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)ctC>ctA		natriuretic peptide A							58.0	68.0	64.0					1																	11907290		2203	4298	6501	SO:0001819	synonymous_variant	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907290G>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.330C>A	1.37:g.11907290G>T						NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Silent_p.L60L	p.L110L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	428	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	110					Q13766|Q5JZE1	Silent	SNP	ENST00000376480.3	37	c.330C>A	CCDS139.1																																																																																				0.667	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		7	127	1	0	0.00198382	1	0.00198382	7	127				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>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.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	21	0	0	0	1	0	5	21				
FBN1	2200	broad.mit.edu	37	15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T	rs534859193		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	ENST00000316623.5	-	8	1282	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	276	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGTTTGTGTCCAGCAGGGCA	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15103	0.0		0.0	False		,,,				2504	0.0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(826-828)gGa>gAa		fibrillin 1							270.0	278.0	275.0					15																	48826312		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48826312C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.827G>A	15.37:g.48826312C>T	ENSP00000325527:p.Gly276Glu						p.G276E	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	8	1282	-		all_lung(180;0.00279)	276			EGF-like 4; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.827G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045005	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.95205	-3.64	5.4	5.4	0.78164	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	10	0.87932	D	0	.	19.5281	0.95214	0.0:1.0:0.0:0.0	.	276	P35555	FBN1_HUMAN	E	276	ENSP00000325527:G276E	ENSP00000325527:G276E	G	-	2	0	FBN1	46613604	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.696000	0.92011	0.655000	0.94253	GGA		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			45	282	0	0	0	1	0	45	282				
ABCA9	10350	broad.mit.edu	37	17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	ENST00000340001.4	-	21	3019	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	936					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCTATGTTCTGTCGCCTCA	0.368																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2806-2808)caG>caC		ATP-binding cassette, sub-family A (ABC1), member 9							249.0	229.0	236.0					17																	67013890		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67013890C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2808G>C	17.37:g.67013890C>G	ENSP00000342216:p.Gln936His					ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9-AS1_ENST00000458677.1_RNA	p.Q936H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			21	3019	-	Breast(10;1.47e-12)		936					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2808G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737613	0.30774	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.23;-2.35	5.1	3.01	0.34805	.	0.000000	0.42682	D	0.000675	D	0.93232	0.7844	M	0.84219	2.685	0.33548	D	0.595721	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93341	0.6710	10	0.87932	D	0	.	7.0398	0.25013	0.0:0.694:0.0:0.3059	.	936;936	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	936;919;936;931	ENSP00000342216:Q936H;ENSP00000359767:Q936H	ENSP00000342216:Q936H	Q	-	3	2	ABCA9	64525485	0.995000	0.38212	0.955000	0.39395	0.100000	0.18952	0.601000	0.24119	0.480000	0.27534	-0.185000	0.12909	CAG		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		21	181	0	0	0	1	0	21	181				
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	ENST00000360465.3	+	5	460	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000391788.2_Missense_Mutation_p.D2Y|ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458																																						ENST00000391788.2																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(4-6)Gat>Tat		zinc finger protein 528							198.0	193.0	195.0					19																	52909178		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909178G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.34G>T	19.37:g.52909178G>T	ENSP00000353652:p.Asp12Tyr					ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000360465.3_Missense_Mutation_p.D12Y|ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y	p.D2Y			Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	527	+			12					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.4G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259950	0.23051	.	.	ENSG00000167555	ENST00000391788;ENST00000436397;ENST00000391787;ENST00000360465;ENST00000494167;ENST00000493272	T;T;T	0.12039	2.72;2.72;2.72	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.58075	0.2097	H	0.99900	4.915	0.29338	N	0.866253	D	0.89917	1.0	D	0.97110	1.0	T	0.64499	-0.6393	9	0.87932	D	0	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	12	Q3MIS6	ZN528_HUMAN	Y	2;12;12;12;2;2	ENSP00000375665:D2Y;ENSP00000375664:D12Y;ENSP00000353652:D12Y	ENSP00000353652:D12Y	D	+	1	0	ZNF528	57600990	0.949000	0.32298	0.035000	0.18076	0.012000	0.07955	3.915000	0.56409	1.141000	0.42275	0.491000	0.48974	GAT		0.458	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		16	137	1	0	4.7546e-09	1	4.91309e-09	16	137				
WDR33	55339	broad.mit.edu	37	2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	ENST00000322313.4	-	19	3567	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1137					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCAGAAGCATCAAAATTCTCC	0.577																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3409-3411)Gat>Aat		WD repeat domain 33							92.0	104.0	100.0					2																	128467330		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467330C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3409G>A	2.37:g.128467330C>T	ENSP00000325377:p.Asp1137Asn						p.D1137N	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3567	-	Colorectal(110;0.1)		1137					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3409G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620043	0.96660	.	.	ENSG00000136709	ENST00000322313	D	0.92752	-3.1	5.32	5.32	0.75619	.	0.059851	0.64402	D	0.000004	D	0.92254	0.7543	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89894	0.4039	10	0.17832	T	0.49	-12.4855	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1137	Q9C0J8	WDR33_HUMAN	N	1137	ENSP00000325377:D1137N	ENSP00000325377:D1137N	D	-	1	0	WDR33	128183800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.493000	0.84123	0.561000	0.74099	GAT		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	131	0	0	0	1	0	7	131				
CNBD2	140894	broad.mit.edu	37	20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	ENST00000373973.3	+	12	1620	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	483																	TAGTGATGAAGATATGTGCCA	0.567																																						ENST00000373973.3																			0											c.(1447-1449)Gat>Cat		cyclic nucleotide binding domain containing 2							88.0	86.0	87.0					20																	34618286		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34618286G>C	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1447G>C	20.37:g.34618286G>C	ENSP00000363084:p.Asp483His					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H	p.D483H							12	1620	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1447G>C		.	.	.	.	.	.	.	.	.	.	G	14.89	2.670970	0.47781	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12879	2.64;2.64	5.33	2.94	0.34122	.	0.914123	0.09151	N	0.841486	T	0.19846	0.0477	L	0.42245	1.32	0.09310	N	1	D	0.53151	0.958	P	0.53313	0.723	T	0.14227	-1.0480	10	0.54805	T	0.06	-1.3745	6.5966	0.22677	0.1054:0.0:0.7128:0.1818	.	479	Q96M20-2	.	H	483;479	ENSP00000363084:D483H;ENSP00000340954:D479H	ENSP00000340954:D479H	D	+	1	0	C20orf152	34081700	0.230000	0.23740	0.329000	0.25429	0.899000	0.52679	2.005000	0.40864	1.205000	0.43262	0.491000	0.48974	GAT		0.567	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		10	88	0	0	0	1	0	10	88				
GBF1	8729	broad.mit.edu	37	10	104140004	104140004	+	Splice_Site	SNP	A	A	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	ENST00000369983.3	+	37	5135		c.e37-1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e37-1		golgi brefeldin A resistant guanine nucleotide exchange factor 1							116.0	109.0	111.0					10																	104140004		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140004A>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4876-1A>C	10.37:g.104140004A>C								NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5135	+		Colorectal(252;0.0236)						Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37		CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967434	0.74131	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104129994	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	9.152000	0.94680	2.254000	0.74563	0.533000	0.62120	.		0.572	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	19	57	0	0	0	1	0	19	57				
BCL2L12	83596	broad.mit.edu	37	19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	ENST00000246785.3	+	1	346	c.88G>A	c.(88-90)Gag>Aag	p.E30K	IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000599223.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000597198.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	30					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CATGCAAATTGAGCGTGCACC	0.602																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(88-90)Gag>Aag		BCL2-like 12 (proline rich)							38.0	39.0	39.0					19																	50169168		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50169168G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.88G>A	19.37:g.50169168G>A	ENSP00000246785:p.Glu30Lys					BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K	p.E30K	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	1	346	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	30					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.88G>A	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386792	0.11524	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.47177	0.94;0.94;0.85	3.36	1.19	0.21007	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16778	-1.0391	9	0.29301	T	0.29	0.2905	3.283	0.06922	0.6207:0.2416:0.1377:0.0	.	30;30	Q3SY13;Q9HB09	.;B2L12_HUMAN	K	30	ENSP00000246785:E30K;ENSP00000393803:E30K;ENSP00000246784:E30K	ENSP00000246784:E30K	E	+	1	0	BCL2L12	54860980	0.000000	0.05858	0.002000	0.10522	0.177000	0.22998	-0.175000	0.09825	0.194000	0.20326	-0.373000	0.07131	GAG		0.602	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		14	26	0	0	0	1	0	14	26				
LNPEP	4012	broad.mit.edu	37	5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	ENST00000231368.5	+	12	2865	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	725					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2173-2175)Gac>Aac		leucyl/cystinyl aminopeptidase							149.0	147.0	148.0					5																	96349489		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349489G>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2173G>A	5.37:g.96349489G>A	ENSP00000231368:p.Asp725Asn					LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	p.D725N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	12	2865	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	725					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2173G>A	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741004	0.49151	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05580	3.42;3.42	5.27	5.27	0.74061	.	0.714464	0.14270	N	0.330201	T	0.10508	0.0257	L	0.40543	1.245	0.24587	N	0.993846	P	0.39964	0.697	P	0.48738	0.588	T	0.23297	-1.0192	10	0.27785	T	0.31	.	10.1736	0.42924	0.0:0.1469:0.7012:0.1519	.	725	Q9UIQ6	LCAP_HUMAN	N	725;711	ENSP00000231368:D725N;ENSP00000379117:D711N	ENSP00000231368:D725N	D	+	1	0	LNPEP	96375245	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.286000	0.18902	2.444000	0.82710	0.650000	0.86243	GAC		0.328	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		19	118	0	0	0	1	0	19	118				
LOC645752	645752	broad.mit.edu	37	15	78213892	78213892	+	lincRNA	SNP	C	C	T	rs376678630		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:78213892C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTCGAAGTGTCGGGCAGCACG	0.493																																						ENST00000565869.1																			0																																																			0							g.chr15:78213892C>T																													15.37:g.78213892C>T						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.493	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			8	93	0	0	0	1	0	8	93				
TARBP1	6894	broad.mit.edu	37	1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	ENST00000040877.1	-	29	4587	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1530					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L1530V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348																																						ENST00000040877.1																			1	Substitution - Missense(1)	p.L1530V(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4588-4590)Ctg>Gtg		TAR (HIV-1) RNA binding protein 1							151.0	148.0	149.0					1																	234528271		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234528271G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4588C>G	1.37:g.234528271G>C	ENSP00000040877:p.Leu1530Val					TARBP1_ENST00000483404.1_5'UTR	p.L1530V	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		29	4587	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1530					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4588C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918551	0.33908	.	.	ENSG00000059588	ENST00000040877	T	0.50548	0.74	5.72	3.52	0.40303	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000003	T	0.66177	0.2763	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66720	-0.5852	10	0.46703	T	0.11	-13.6468	6.5681	0.22523	0.3607:0.0:0.6393:0.0	.	1530	Q13395	TARB1_HUMAN	V	1530	ENSP00000040877:L1530V	ENSP00000040877:L1530V	L	-	1	2	TARBP1	232594894	1.000000	0.71417	0.973000	0.42090	0.220000	0.24768	3.413000	0.52686	1.436000	0.47453	-0.237000	0.12165	CTG		0.348	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		18	85	0	0	0	1	0	18	85				
RAB33A	9363	broad.mit.edu	37	X	129318340	129318340	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	ENST00000257017.4	+	2	754	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	114					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACATGCCGTGGTCTTCGTCTA	0.502																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(340-342)Gtc>Ttc		RAB33A, member RAS oncogene family							161.0	122.0	135.0					X																	129318340		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318340G>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.340G>T	X.37:g.129318340G>T	ENSP00000257017:p.Val114Phe						p.V114F	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	754	+			114					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.340G>T	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517263	0.85495	.	.	ENSG00000134594	ENST00000257017	D	0.82081	-1.57	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88428	0.3033	10	0.87932	D	0	-19.3113	17.2062	0.86918	0.0:0.0:1.0:0.0	.	114	Q14088	RB33A_HUMAN	F	114	ENSP00000257017:V114F	ENSP00000257017:V114F	V	+	1	0	RAB33A	129146021	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.706000	0.74649	2.072000	0.62099	0.429000	0.28392	GTC		0.502	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		16	47	1	0	6.72482e-11	1	7.31472e-11	16	47				
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	ENST00000380055.5	-	5	1059	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(949-951)Gaa>Caa		leucine rich repeat containing 19							128.0	127.0	128.0					9																	26995683		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26995683C>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.949G>C	9.37:g.26995683C>G	ENSP00000369395:p.Glu317Gln					IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000429045.2_Intron	p.E317Q	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	5	1059	-		all_neural(11;1.81e-09)	317					A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.949G>C	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171881	0.38315	.	.	ENSG00000184434	ENST00000380055	T	0.54479	0.57	5.55	3.71	0.42584	.	0.837919	0.10910	N	0.620714	T	0.58466	0.2124	L	0.60455	1.87	0.31775	N	0.631625	D	0.57899	0.981	P	0.49637	0.617	T	0.62695	-0.6800	10	0.72032	D	0.01	-0.0482	11.7226	0.51691	0.0:0.8579:0.0:0.1421	.	317	Q9H756	LRC19_HUMAN	Q	317	ENSP00000369395:E317Q	ENSP00000369395:E317Q	E	-	1	0	LRRC19	26985683	0.996000	0.38824	0.105000	0.21289	0.060000	0.15804	2.360000	0.44151	0.716000	0.32124	-0.225000	0.12378	GAA		0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		8	60	0	0	0	1	0	8	60				
SPAG6	9576	broad.mit.edu	37	10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	ENST00000376624.3	+	5	642	c.500G>C	c.(499-501)gGa>gCa	p.G167A	SPAG6_ENST00000376603.2_Missense_Mutation_p.G243A|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	167					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTGGATGCAGGAGCTGTTCCT	0.463																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(727-729)gGa>gCa		sperm associated antigen 6							110.0	102.0	105.0					10																	22675710		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22675710G>C	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.500G>C	10.37:g.22675710G>C	ENSP00000365811:p.Gly167Ala					SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.G167A|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A	p.G243A			O75602	SPAG6_HUMAN			5	870	+			167					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.728G>C	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654449	0.88056	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;0.15	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.73380	0.98;0.967;0.967;0.98	D	0.95486	0.8565	10	0.87932	D	0	-27.5983	19.9756	0.97304	0.0:0.0:1.0:0.0	.	142;243;167;167	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	A	167;243;142;167;243	ENSP00000365811:G167A;ENSP00000365788:G243A;ENSP00000441325:G142A;ENSP00000323599:G167A;ENSP00000406594:G243A	ENSP00000323599:G167A	G	+	2	0	SPAG6	22715716	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.772000	0.98984	2.793000	0.96121	0.563000	0.77884	GGA		0.463	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	72	0	0	0	1	0	4	72				
AP4E1	23431	broad.mit.edu	37	15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	ENST00000261842.5	+	16	2157	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	684					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCTTGGTTCAGATGTATCT	0.383																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2050-2052)tCa>tTa		adaptor-related protein complex 4, epsilon 1 subunit							140.0	139.0	139.0					15																	51276303		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51276303C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2051C>T	15.37:g.51276303C>T	ENSP00000261842:p.Ser684Leu					AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	p.S684L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	16	2157	+			684					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2051C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339678	0.81911	.	.	ENSG00000081014	ENST00000261842	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.27020	-1.0086	10	0.56958	D	0.05	-10.1007	16.6229	0.84934	0.0:1.0:0.0:0.0	.	684	Q9UPM8	AP4E1_HUMAN	L	684	ENSP00000261842:S684L	ENSP00000261842:S684L	S	+	2	0	AP4E1	49063595	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.161000	0.64935	2.295000	0.77249	0.650000	0.86243	TCA		0.383	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	81	0	0	0	1	0	6	81				
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(142-144)Cga>Tga		zona pellucida binding protein							33.0	34.0	33.0					7																	50129291		2203	4298	6501	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129291G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.142C>T	7.37:g.50129291G>A	ENSP00000046087:p.Arg48*					ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			2	211	-	Glioma(55;0.08)|all_neural(89;0.245)		48					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.142C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259065	0.95368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.49	4.6	0.57074	.	0.365143	0.20359	N	0.093885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6381	13.7355	0.62815	0.0:0.0:0.8368:0.1632	.	.	.	.	X	48;48;9	.	.	R	-	1	2	ZPBP	50099837	0.956000	0.32656	0.839000	0.33178	0.855000	0.48748	2.010000	0.40913	1.425000	0.47237	0.557000	0.71058	CGA		0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	22	0	0	0	1	0	3	22				
SPATA2	9825	broad.mit.edu	37	20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	ENST00000422556.1	-	3	1182	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	278					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(832-834)cCt>cTt		spermatogenesis associated 2							56.0	56.0	56.0					20																	48522886		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522886G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.833C>T	20.37:g.48522886G>A	ENSP00000416799:p.Pro278Leu					SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	p.P278L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1182	-	Hepatocellular(150;0.133)		278					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.833C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103166	0.56183	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.58652	0.33;0.33;0.32	5.05	5.05	0.67936	.	0.069405	0.64402	D	0.000015	T	0.64305	0.2586	L	0.59436	1.845	0.80722	D	1	P	0.46327	0.876	P	0.47864	0.559	T	0.69235	-0.5198	10	0.87932	D	0	-41.3362	18.5996	0.91244	0.0:0.0:1.0:0.0	.	278	Q9UM82	SPAT2_HUMAN	L	278;278;141	ENSP00000289431:P278L;ENSP00000416799:P278L;ENSP00000438855:P141L	ENSP00000289431:P278L	P	-	2	0	SPATA2	47956293	1.000000	0.71417	0.894000	0.35097	0.045000	0.14185	8.850000	0.92190	2.615000	0.88500	0.650000	0.86243	CCT		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		8	76	0	0	0	1	0	8	76				
PHKA2	5256	broad.mit.edu	37	X	18970621	18970621	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	ENST00000379942.4	-	3	941	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	92					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCTGTCTCATCATGCACTGGA	0.478																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(274-276)atG>atA		phosphorylase kinase, alpha 2 (liver)							173.0	110.0	131.0					X																	18970621		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18970621C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.276G>A	X.37:g.18970621C>T	ENSP00000369274:p.Met92Ile						p.M92I	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			3	941	-	Hepatocellular(33;0.183)		92					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.276G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331310	0.81690	.	.	ENSG00000044446	ENST00000379942	D	0.90069	-2.61	5.74	5.74	0.90152	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.84773	2.715	0.80722	D	1	B	0.28055	0.199	B	0.31751	0.135	D	0.90105	0.4187	10	0.62326	D	0.03	-31.8502	18.8392	0.92176	0.0:1.0:0.0:0.0	.	92	P46019	KPB2_HUMAN	I	92	ENSP00000369274:M92I	ENSP00000369274:M92I	M	-	3	0	PHKA2	18880542	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.776000	0.55356	2.395000	0.81488	0.600000	0.82982	ATG		0.478	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	58	0	0	0	1	0	6	58				
ARHGAP4	393	broad.mit.edu	37	X	153184648	153184648	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	ENST00000350060.5	-	6	812	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000370028.3_Silent_p.V297V|ARHGAP4_ENST00000393721.1_Intron	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(889-891)gtC>gtT		Rho GTPase activating protein 4							220.0	141.0	168.0					X																	153184648		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184648G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.771C>T	X.37:g.153184648G>A						ARHGAP4_ENST00000350060.5_Silent_p.V257V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000393721.1_Intron	p.V297V	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			7	948	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		257					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.891C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042786	0.19748	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6652	0.28426	0.2086:0.0:0.7914:0.0	.	.	.	.	X	145	.	.	Q	-	1	0	ARHGAP4	152837842	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	2.497000	0.45354	0.800000	0.34041	0.479000	0.44913	CAG		0.572	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		9	76	0	0	0	1	0	9	76				
ABCA5	23461	broad.mit.edu	37	17	67261047	67261047	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	ENST00000392676.3	-	24	3209		c.e24-1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGCTTTGATCTAAAAAAAAT	0.259																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e24-1		ATP-binding cassette, sub-family A (ABC1), member 5							39.0	41.0	41.0					17																	67261047		2202	4293	6495	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67261047C>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3145-1G>C	17.37:g.67261047C>G						ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site				Q8WWZ7	ABCA5_HUMAN			24	3209	-	Breast(10;3.72e-11)							Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37		CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895219	0.72639	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8117	0.92059	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64772642	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.810000	0.75216	2.526000	0.85167	0.462000	0.41574	.		0.259	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	4	44	0	0	0	1	0	4	44				
DNAH1	25981	broad.mit.edu	37	3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	ENST00000420323.2	+	26	4650	c.4389delC	c.(4387-4389)ttcfs	p.F1463fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAACTGTTCCCCCAGCTCT	0.637																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4387-4389)ttfs		dynein, axonemal, heavy chain 1							31.0	40.0	37.0					3																	52393384		1948	4137	6085	SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393384delC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4389delC	3.37:g.52393384delC	ENSP00000401514:p.Phe1463fs						p.F1463fs	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4650	+			1463			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	c.4389delC	CCDS46842.1																																																																																				0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		2	4						2	4	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-	rs563612549		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	ENST00000320580.4	+	1	279	c.246delG	c.(244-246)tcgfs	p.S82fs	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	82	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CGGTGGCCTCGGGCTCCGCGC	0.741																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(244-246)tcfs		phosphofurin acidic cluster sorting protein 1							6.0	8.0	7.0					11																	65838203		2098	4137	6235	SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838203delG	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.246delG	11.37:g.65838203delG	ENSP00000316454:p.Ser82fs						p.S82fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	279	+			82			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Del	DEL	ENST00000320580.4	37	c.246delG	CCDS8129.1																																																																																				0.741	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4						2	4	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-	rs575458911		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)ccfs		synaptotagmin V							19.0	20.0	20.0					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs					SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	456	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		2	4						2	4	---	---	---	---
