#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	181	0	0	0	1	0	7	181				
HIST1H4C	8364	broad.mit.edu	37	6	26104424	26104424	+	Silent	SNP	A	A	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:26104424A>T	ENST00000377803.2	+	1	321	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	83					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAACTGTCACAGCCATGGATG	0.483																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(247-249)acA>acT		histone cluster 1, H4c							71.0	63.0	66.0					6																	26104424		2203	4300	6503	SO:0001819	synonymous_variant	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104424A>T	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.249A>T	6.37:g.26104424A>T							p.T83T	NM_003542.3	NP_003533.1	P62805	H4_HUMAN			1	321	+			83					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	37	c.249A>T	CCDS4583.1																																																																																				0.483	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		17	63	0	0	0	1	0	17	63				
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(577-579)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							95.0	85.0	88.0					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	22	0	0	0	1	0	16	22				
FAM173B	134145	broad.mit.edu	37	5	10227588	10227588	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:10227588T>G	ENST00000511437.1	-	5	679	c.667A>C	c.(667-669)Aca>Cca	p.T223P	FAM173B_ENST00000280330.8_Missense_Mutation_p.T59P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P|FAM173B_ENST00000510052.1_5'Flank	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	223						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGCATCGATGTACAGGGCCTC	0.478																																						ENST00000280330.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(175-177)Aca>Cca		family with sequence similarity 173, member B							113.0	111.0	112.0					5																	10227588		1948	4140	6088	SO:0001583	missense	134145					integral to membrane		g.chr5:10227588T>G		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.667A>C	5.37:g.10227588T>G	ENSP00000422338:p.Thr223Pro					FAM173B_ENST00000511437.1_Missense_Mutation_p.T223P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P	p.T59P			Q6P4H8	F173B_HUMAN			6	781	-			223					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.175A>C	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246441	0.22796	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.15952	2.38;2.38;2.38	4.7	-8.62	0.00881	.	4.291010	0.00575	N	0.000309	T	0.06872	0.0175	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	0.25676	-1.0125	10	0.40728	T	0.16	.	3.2527	0.06820	0.25:0.4527:0.1207:0.1766	.	206;223	E9PBZ4;Q6P4H8	.;F173B_HUMAN	P	59;223;206	ENSP00000280330:T59P;ENSP00000422338:T223P;ENSP00000420876:T206P	ENSP00000280330:T59P	T	-	1	0	FAM173B	10280588	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-1.138000	0.02884	-0.274000	0.10170	ACA		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		8	53	0	0	0	1	0	8	53				
HIST1H1B	3009	broad.mit.edu	37	6	27834840	27834840	+	Silent	SNP	C	C	A	rs139479440|rs545007006	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:27834840C>A	ENST00000331442.3	-	1	519	c.468G>T	c.(466-468)ccG>ccT	p.P156P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCGCCTTCTTCGGAGTCTTCT	0.602																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(466-468)ccG>ccT		histone cluster 1, H1b							88.0	102.0	97.0					6																	27834840		2202	4299	6501	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834840C>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.468G>T	6.37:g.27834840C>A							p.P156P	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	519	-			156					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.468G>T	CCDS4635.1																																																																																				0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		31	189	1	0	1.08312e-15	1	1.20574e-15	31	189				
ASNS	440	broad.mit.edu	37	7	97488687	97488687	+	Missense_Mutation	SNP	C	C	T	rs149193118		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:97488687C>T	ENST00000394309.3	-	5	982	c.511G>A	c.(511-513)Gcg>Acg	p.A171T	ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000175506.4_Missense_Mutation_p.A171T	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGGGAGTCGCGGAGTGCTTC	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(511-513)Gcg>Acg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	69.0	73.0	71.0		448,262,262,511,511,511	-3.6	0.0	7	dbSNP_134	71	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	ASNS	NM_001178075.1,NM_001178076.1,NM_001178077.1,NM_001673.4,NM_133436.3,NM_183356.3	58,58,58,58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign,benign	150/541,88/479,88/479,171/562,171/562,171/562	97488687	2,13004	2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488687C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.511G>A	7.37:g.97488687C>T	ENSP00000377846:p.Ala171Thr					ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000394309.3_Missense_Mutation_p.A171T	p.A171T	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1039	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		171			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.511G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092437	0.01858	4.54E-4	0.0	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.48201	0.84;0.84;0.82;0.84;0.84;0.82;0.84;0.93	4.61	-3.63	0.04529	Glutamine amidotransferase, type II (1);	1.053790	0.07392	N	0.889216	T	0.19046	0.0457	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.11794	T	0.64	0.4036	0.6963	0.00899	0.2545:0.1615:0.1308:0.4532	.	171	P08243	ASNS_HUMAN	T	171;171;88;171;150;88;150;171	ENSP00000175506:A171T;ENSP00000377846:A171T;ENSP00000414379:A88T;ENSP00000377845:A171T;ENSP00000414901:A150T;ENSP00000408472:A88T;ENSP00000406994:A150T;ENSP00000400422:A171T	ENSP00000175506:A171T	A	-	1	0	ASNS	97326623	0.010000	0.17322	0.025000	0.17156	0.000000	0.00434	0.040000	0.13905	-0.397000	0.07691	-1.971000	0.00464	GCG		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		13	36	0	0	0	1	0	13	36				
MT-ND2	4536	broad.mit.edu	37	M	2032	2032	+	5'Flank	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:2032G>A	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TTGTCCAAGATAGAATCTTAG	0.423																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2032G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2032G>A	Exception_encountered							NR_039705.1						0	362	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.423	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		105	42	0	0	0	1	0	105	42				
OR9K2	441639	broad.mit.edu	37	12	55524043	55524043	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:55524043G>A	ENST00000305377.5	+	1	579	c.491G>A	c.(490-492)cGt>cAt	p.R164H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTCCACACGTCTGTGTACT	0.468																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(490-492)cGt>cAt		olfactory receptor, family 9, subfamily K, member 2							145.0	137.0	140.0					12																	55524043		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524043G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.491G>A	12.37:g.55524043G>A	ENSP00000307598:p.Arg164His						p.R164H	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	579	+			164					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.491G>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885651	0.17540	.	.	ENSG00000170605	ENST00000305377	T	0.00406	7.55	4.98	-0.24	0.13047	GPCR, rhodopsin-like superfamily (1);	0.404876	0.21454	N	0.074295	T	0.00356	0.0011	M	0.63428	1.95	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.44390	-0.9331	10	0.59425	D	0.04	0.0695	6.1759	0.20442	0.5505:0.0:0.3196:0.1298	.	164	Q8NGE7	OR9K2_HUMAN	H	164	ENSP00000307598:R164H	ENSP00000307598:R164H	R	+	2	0	OR9K2	53810310	0.000000	0.05858	0.351000	0.25721	0.578000	0.36192	-2.219000	0.01218	-0.064000	0.13043	0.650000	0.86243	CGT		0.468	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			34	108	0	0	0	1	0	34	108				
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	C	T	rs200350302		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:129453154C>T	ENST00000373474.4	+	3	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000425646.2_Silent_p.I99I|LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000355497.5_Silent_p.I122I			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	122	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(364-366)atC>atT		LIM homeobox transcription factor 1, beta							47.0	42.0	44.0					9																	129453154		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453154C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.366C>T	9.37:g.129453154C>T						LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000425646.2_Silent_p.I99I	p.I122I	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			3	373	+			99			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.366C>T	CCDS55342.1																																																																																				0.647	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			15	24	0	0	0	1	0	15	24				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	9	1	0	0.00198382	1	0.00205343	7	9				
ATP13A2	23400	broad.mit.edu	37	1	17320326	17320326	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:17320326C>A	ENST00000326735.8	-	16	1580	c.1547G>T	c.(1546-1548)gGc>gTc	p.G516V	ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000452699.1_Missense_Mutation_p.G511V|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V			Q9NQ11	AT132_HUMAN	ATPase type 13A2	516					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTGAGGGTGCCCGTCTGTGG	0.692																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1531-1533)gGc>gTc		ATPase type 13A2							12.0	8.0	10.0					1																	17320326		2149	4229	6378	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17320326C>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1547G>T	1.37:g.17320326C>A	ENSP00000327214:p.Gly516Val					RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G516V	p.G511V	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	16	1721	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	516					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1532G>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796431	0.90453	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.82167	-1.58;-1.58;-1.58	5.63	5.63	0.86233	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94496	0.8228	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95964	0.8964	10	0.87932	D	0	-38.8788	18.2179	0.89893	0.0:1.0:0.0:0.0	.	511;511;516	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	V	516;511;511	ENSP00000327214:G516V;ENSP00000341115:G511V;ENSP00000413307:G511V	ENSP00000327214:G516V	G	-	2	0	ATP13A2	17192913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.867000	0.75511	2.656000	0.90262	0.491000	0.48974	GGC		0.692	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		3	9	1	0	0.004672	1	0.00475255	3	9				
ABCA3	21	broad.mit.edu	37	16	2331468	2331468	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2331468C>T	ENST00000301732.5	-	27	4778	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1360					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TCCGCTACATCTTGGTCCTCA	0.582																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4078-4080)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 3							66.0	67.0	66.0					16																	2331468		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331468C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4078G>A	16.37:g.2331468C>T	ENSP00000301732:p.Asp1360Asn					ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	p.D1360N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			27	4778	-		Ovarian(90;0.17)	1360					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.4078G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757631	0.89843	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.92858	-3.12	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.86097	2.795	0.80722	D	1	B;D	0.54964	0.382;0.969	B;P	0.55455	0.202;0.776	D	0.95813	0.8843	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	1364;1360	Q4LE27;Q99758	.;ABCA3_HUMAN	N	1360;1364	ENSP00000301732:D1360N	ENSP00000301732:D1360N	D	-	1	0	ABCA3	2271469	1.000000	0.71417	0.982000	0.44146	0.535000	0.34838	6.929000	0.75852	2.699000	0.92147	0.655000	0.94253	GAT		0.582	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	98	0	0	0	1	0	10	98				
MYO1G	64005	broad.mit.edu	37	7	45003662	45003662	+	Missense_Mutation	SNP	C	C	T	rs376350486		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:45003662C>T	ENST00000258787.7	-	20	2867	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	911	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V911L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCAAGGGGCACGGCCCGCATC	0.642																																						ENST00000258787.7																			1	Substitution - Missense(1)	p.V911L(1)	breast(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(2731-2733)Gtg>Atg		myosin IG		C	MET/VAL	0,4390		0,0,2195	60.0	54.0	56.0		2731	2.2	0.5	7		56	1,8599		0,1,4299	no	missense	MYO1G	NM_033054.2	21	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	911/1019	45003662	1,12989	2195	4300	6495	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45003662C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2731G>A	7.37:g.45003662C>T	ENSP00000258787:p.Val911Met						p.V911M	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			20	2867	-			911					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2731G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282849	0.23392	0.0	1.16E-4	ENSG00000136286	ENST00000258787	T	0.42900	0.96	4.24	2.22	0.28083	Myosin tail 2 (1);	0.000000	0.33834	N	0.004502	T	0.28665	0.0710	L	0.39397	1.21	0.20196	N	0.999927	B	0.32829	0.386	B	0.33392	0.163	T	0.11717	-1.0576	10	0.35671	T	0.21	.	5.015	0.14331	0.0:0.4693:0.3268:0.2038	.	911	B0I1T2	MYO1G_HUMAN	M	911	ENSP00000258787:V911M	ENSP00000258787:V911M	V	-	1	0	MYO1G	44970187	0.004000	0.15560	0.544000	0.28141	0.208000	0.24298	-0.013000	0.12678	0.395000	0.25257	0.655000	0.94253	GTG		0.642	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			3	11	0	0	0	1	0	3	11				
FGF13	2258	broad.mit.edu	37	X	137717785	137717785	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:137717785T>A	ENST00000315930.6	-	4	1095	c.434A>T	c.(433-435)gAa>gTa	p.E145V	FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V|FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	145	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACACTGATTCTTTGAATTT	0.373																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(433-435)gAa>gTa		fibroblast growth factor 13							79.0	67.0	71.0					X																	137717785		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717785T>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.434A>T	X.37:g.137717785T>A	ENSP00000322390:p.Glu145Val					FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V|FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V	p.E145V	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			4	1095	-	Acute lymphoblastic leukemia(192;0.000127)		145					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.434A>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896149	0.91962	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	H	0.97131	3.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94424	0.7643	10	0.87932	D	0	.	14.7713	0.69681	0.0:0.0:0.0:1.0	.	99;155;92;145	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	V	145;92;126;155;99;155;161	ENSP00000322390:E145V;ENSP00000303391:E92V;ENSP00000409276:E126V;ENSP00000359635:E155V;ENSP00000437903:E99V;ENSP00000396198:E155V;ENSP00000406916:E161V	ENSP00000303391:E92V	E	-	2	0	FGF13	137545451	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.088000	0.63022	0.486000	0.48141	GAA		0.373	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		14	35	0	0	0	1	0	14	35				
MT-ND5	4540	broad.mit.edu	37	M	12441	12441	+	Silent	SNP	T	T	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:12441T>C	ENST00000361567.2	+	1	105	c.105T>C	c.(103-105)taT>taC	p.Y35Y	MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TACCCCCATTATGTAAAATCC	0.423																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(103-105)taT>taC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12441T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.105T>C	M.37:g.12441T>C							p.Y35Y			P03915	NU5M_HUMAN			1	105	+			35					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.105T>C																																																																																					0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		21	150	0	0	0	1	0	21	150				
FSCB	84075	broad.mit.edu	37	14	44976102	44976102	+	Missense_Mutation	SNP	C	C	T	rs554125229		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:44976102C>T	ENST00000340446.4	-	1	380	c.89G>A	c.(88-90)cGt>cAt	p.R30H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	30						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.R30H(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTACCAATACGATGGGTAGC	0.428																																						ENST00000340446.4																			1	Substitution - Missense(1)	p.R30H(1)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(88-90)cGt>cAt		fibrous sheath CABYR binding protein							227.0	220.0	222.0					14																	44976102		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976102C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.89G>A	14.37:g.44976102C>T	ENSP00000344579:p.Arg30His						p.R30H	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	380	-			30					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.89G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004566	0.35320	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12569	2.67	5.49	3.68	0.42216	.	.	.	.	.	T	0.15478	0.0373	N	0.22421	0.69	0.22552	N	0.999	D	0.71674	0.998	P	0.53649	0.731	T	0.08973	-1.0696	9	0.56958	D	0.05	-0.3208	8.5507	0.33449	0.0:0.823:0.0:0.177	.	30	Q5H9T9	FSCB_HUMAN	H	30	ENSP00000344579:R30H	ENSP00000344579:R30H	R	-	2	0	FSCB	44045852	0.980000	0.34600	0.756000	0.31282	0.077000	0.17291	0.886000	0.28241	0.816000	0.34421	0.555000	0.69702	CGT		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		22	115	0	0	0	1	0	22	115				
DERL1	79139	broad.mit.edu	37	8	124037229	124037229	+	Silent	SNP	G	G	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr8:124037229G>T	ENST00000259512.4	-	3	627	c.327C>A	c.(325-327)atC>atA	p.I109I	DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000523036.1_Silent_p.I9I|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.I9I	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	109					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGATACCACGATGCAAATCC	0.383																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(325-327)atC>atA		derlin 1							69.0	65.0	66.0					8																	124037229		2203	4300	6503	SO:0001819	synonymous_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124037229G>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.327C>A	8.37:g.124037229G>T						DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000523036.1_Silent_p.I9I|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.I9I	p.I109I	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	627	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		109					B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	c.327C>A	CCDS6337.1																																																																																				0.383	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		5	30	1	0	0.000602214	1	0.000634476	5	30				
RPTN	126638	broad.mit.edu	37	1	152128023	152128023	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:152128023C>A	ENST00000316073.3	-	3	1616	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	518	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAACTCTGGCCTTGTCTGTCT	0.498																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1552-1554)Ggc>Tgc		repetin							816.0	711.0	743.0					1																	152128023		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128023C>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1552G>T	1.37:g.152128023C>A	ENSP00000317895:p.Gly518Cys						p.G518C	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1616	-			518			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1552G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104754	0.56291	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.16897	2.31	5.05	2.07	0.26955	.	0.241071	0.21161	U	0.079150	T	0.26666	0.0652	M	0.87269	2.87	0.09310	N	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.72032	D	0.01	-6.3588	6.5582	0.22471	0.0:0.6792:0.1488:0.172	.	518	Q6XPR3	RPTN_HUMAN	C	518;173	ENSP00000317895:G518C	ENSP00000317895:G518C	G	-	1	0	RPTN	150394647	0.000000	0.05858	0.083000	0.20561	0.010000	0.07245	0.019000	0.13444	0.140000	0.18849	0.478000	0.44815	GGC		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		379	665	1	0	1.76114e-179	1	2.0374e-179	379	665				
ZNF585A	199704	broad.mit.edu	37	19	37643369	37643369	+	Silent	SNP	G	G	T	rs143272721	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:37643369G>T	ENST00000356958.4	-	5	1690	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	ZNF585A_ENST00000392157.2_Silent_p.R423R|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Silent_p.R423R|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTTGACCGGTTGGTGAAT	0.403																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1432-1434)Cgg>Agg		zinc finger protein 585A							107.0	104.0	105.0					19																	37643369		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643369G>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1432C>A	19.37:g.37643369G>T						ZNF585A_ENST00000292841.5_Silent_p.R423R|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.R423R	p.R478R			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1690	-			478					Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.1432C>A																																																																																					0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		15	104	1	0	9.16793e-09	1	1.00168e-08	15	104				
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGACGCCTCGCAGAGCCGGT	0.592																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(916-918)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						120.0	108.0	112.0					5																	1420693		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420693G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.918C>T	5.37:g.1420693G>A						SLC6A3_ENST00000453492.2_Silent_p.C306C	p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		6	1045	-			306					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.918C>T	CCDS3863.1																																																																																				0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		58	109	0	0	0	1	0	58	109				
SAV1	60485	broad.mit.edu	37	14	51101951	51101951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:51101951G>A	ENST00000324679.4	-	5	1465	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	368	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTGCTTTCGGTTTTCCAAC	0.343																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(1102-1104)Cga>Tga		salvador homolog 1 (Drosophila)							137.0	129.0	132.0					14																	51101951		2203	4300	6503	SO:0001587	stop_gained	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51101951G>A	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.1102C>T	14.37:g.51101951G>A	ENSP00000324729:p.Arg368*						p.R368*	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			5	1465	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		368			SARAH.		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	37	c.1102C>T	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.038299|3.038299	0.54896|0.54896	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000557458|ENST00000555720;ENST00000324679;ENST00000535862	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.100365	.|0.64402	.|D	.|0.000001	T|.	0.46964|.	0.1420|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36529|.	-0.9744|.	4|.	.|0.02654	.|T	.|1	-1.0887|-1.0887	18.5751|18.5751	0.91151|0.91151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	73|300;368;335	.|.	.|ENSP00000324729:R368X	P|R	-|-	2|1	0|2	SAV1|SAV1	50171701|50171701	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.255000|0.255000	0.26057|0.26057	9.795000|9.795000	0.99099|0.99099	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.343	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			23	34	0	0	0	1	0	23	34				
PJA1	64219	broad.mit.edu	37	X	68382933	68382933	+	Missense_Mutation	SNP	G	G	A	rs147196192		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:68382933G>A	ENST00000361478.1	-	2	526	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	50					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCGGAGTTCGTCTTTCTCTG	0.537																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(148-150)aCg>aTg		praja ring finger 1, E3 ubiquitin protein ligase		G	,MET/THR,MET/THR	0,3835		0,0,1632,571	222.0	196.0	204.0		,149,149	3.3	0.6	X	dbSNP_134	204	1,6727		0,1,2427,1872	no	utr-5,missense,missense	PJA1	NM_001032396.2,NM_022368.4,NM_145119.3	,81,81	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,probably-damaging,probably-damaging	,50/456,50/644	68382933	1,10562	2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382933G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.149C>T	X.37:g.68382933G>A	ENSP00000355014:p.Thr50Met					PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M|PJA1_ENST00000477231.1_5'UTR	p.T50M	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	526	-			50					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.149C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114228	0.20795	0.0	1.49E-4	ENSG00000181191	ENST00000374584;ENST00000374583;ENST00000361478	T;T;T	0.05855	3.39;3.38;3.38	3.3	3.3	0.37823	.	0.738070	0.11260	U	0.582628	T	0.14356	0.0347	L	0.36672	1.1	0.35740	D	0.818598	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.17992	-1.0351	10	0.87932	D	0	.	7.204	0.25897	0.0:0.0:0.7355:0.2645	.	50;50	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	M	50	ENSP00000363712:T50M;ENSP00000363711:T50M;ENSP00000355014:T50M	ENSP00000355014:T50M	T	-	2	0	PJA1	68299658	0.943000	0.32029	0.642000	0.29436	0.013000	0.08279	1.886000	0.39688	1.938000	0.56188	0.534000	0.68092	ACG		0.537	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		41	116	0	0	0	1	0	41	116				
MAN2A2	4122	broad.mit.edu	37	15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	rs146996561		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr15:91455346G>A	ENST00000559717.1	+	15	2642	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_ENST00000360468.3_Missense_Mutation_p.R728H|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	728					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGGCACCGCACGCTGCCC	0.667																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2182-2184)cGc>cAc		mannosidase, alpha, class 2A, member 2		G	HIS/ARG	0,4396		0,0,2198	63.0	60.0	61.0		2183	1.8	0.2	15	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	no	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	728/1151	91455346	1,12991	2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455346G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2183G>A	15.37:g.91455346G>A	ENSP00000452948:p.Arg728His					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R728H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H	p.R728H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2201	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		728					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2183G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191580	0.38707	0.0	1.16E-4	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.78816	-1.21;-1.21	5.29	1.83	0.25207	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.406531	0.30584	N	0.009317	T	0.69214	0.3086	M	0.64997	1.995	0.26295	N	0.978066	B;B;B	0.12013	0.005;0.0;0.002	B;B;B	0.16289	0.015;0.005;0.008	T	0.59241	-0.7491	10	0.45353	T	0.12	-12.6347	4.9597	0.14059	0.4073:0.1598:0.4329:0.0	.	236;356;728	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	728;236	ENSP00000353655:R728H;ENSP00000388221:R236H	ENSP00000353655:R728H	R	+	2	0	MAN2A2	89256350	0.455000	0.25736	0.154000	0.22540	0.974000	0.67602	0.748000	0.26305	0.080000	0.16959	0.456000	0.33151	CGC		0.667	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		56	58	0	0	0	1	0	56	58				
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000284629.2																			1	Substitution - Missense(1)	p.E16K(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(46-48)Gag>Aag		ankyrin repeat, SAM and basic leucine zipper domain containing 1							57.0	53.0	54.0					7																	117067469		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067469C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.46G>A	7.37:g.117067469C>T	ENSP00000284629:p.Glu16Lys		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478		p.E16K	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	108	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		16						Missense_Mutation	SNP	ENST00000284629.2	37	c.46G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721436	0.89298	.	.	ENSG00000154438	ENST00000284629	T	0.69306	-0.39	5.14	5.14	0.70334	.	0.057091	0.64402	D	0.000002	T	0.81880	0.4916	M	0.78049	2.395	0.48452	D	0.99965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83488	0.0068	10	0.72032	D	0.01	-1.79	16.4814	0.84158	0.0:1.0:0.0:0.0	.	16;16	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	K	16	ENSP00000284629:E16K	ENSP00000284629:E16K	E	-	1	0	ASZ1	116854705	1.000000	0.71417	0.999000	0.59377	0.576000	0.36127	3.829000	0.55760	2.829000	0.97493	0.655000	0.94253	GAG		0.667	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		19	79	0	0	0	1	0	19	79				
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G	rs201054007	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597																																						ENST00000602139.1																			2	Substitution - Missense(2)	p.A337G(1)|p.A299G(1)	endometrium(2)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474960C>G	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474960C>G														0	1035	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	C	8.640	0.895790	0.17686	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	2.09	-4.17	0.03857	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.896444	0.09326	N	0.817572	T	0.25644	0.0624	.	.	.	0.09310	N	1	B	0.21309	0.054	B	0.23419	0.046	T	0.17228	-1.0376	8	0.39692	T	0.17	.	4.75	0.13056	0.3457:0.3082:0.3461:0.0	.	337	A6NMB1	SIG16_HUMAN	G	365;337	.	ENSP00000396157:A365G	A	+	2	0	SIGLEC16	55166772	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.800000	0.04555	-1.793000	0.01258	0.407000	0.27541	GCA		0.597	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		8	137	0	0	0	1	0	8	137				
NCBP1	4686	broad.mit.edu	37	9	100403882	100403882	+	Silent	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:100403882T>A	ENST00000375147.3	+	3	418	c.162T>A	c.(160-162)gcT>gcA	p.A54A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	54	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGGCTTGGCTGGTGTTTTGG	0.373																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(160-162)gcT>gcA		nuclear cap binding protein subunit 1, 80kDa							165.0	155.0	158.0					9																	100403882		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100403882T>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.162T>A	9.37:g.100403882T>A							p.A54A	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			3	418	+		Acute lymphoblastic leukemia(62;0.158)	54			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.162T>A	CCDS6728.1																																																																																				0.373	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		33	69	0	0	0	1	0	33	69				
NF1	4763	broad.mit.edu	37	17	29687566	29687566	+	Missense_Mutation	SNP	C	C	G	rs144178015		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:29687566C>G	ENST00000358273.4	+	57	8605	c.8222C>G	c.(8221-8223)aCg>aGg	p.T2741R	NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.T534R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2741					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGATTGACACGTACCTGCCT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8221-8223)aCg>aGg		neurofibromin 1							169.0	162.0	164.0					17																	29687566		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29687566C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8222C>G	17.37:g.29687566C>G	ENSP00000351015:p.Thr2741Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000444181.2_Missense_Mutation_p.T534R|NF1_ENST00000417592.2_3'UTR	p.T2741R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	57	8605	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2741					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8222C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938539	0.52972	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.49432	3.05;3.19;2.88;0.78	5.27	5.27	0.74061	.	0.165378	0.50627	D	0.000101	T	0.36963	0.0986	L	0.32530	0.975	0.80722	D	1	B;B;B	0.31485	0.177;0.325;0.138	B;B;B	0.25506	0.041;0.061;0.059	T	0.34900	-0.9810	10	0.87932	D	0	.	13.8091	0.63252	0.1532:0.8468:0.0:0.0	.	534;2720;2741	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	R	2741;2720;2386;534	ENSP00000351015:T2741R;ENSP00000348498:T2720R;ENSP00000389907:T2386R;ENSP00000396481:T534R	ENSP00000348498:T2720R	T	+	2	0	NF1	26711692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.793000	0.47845	2.465000	0.83290	0.655000	0.94253	ACG		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	143	0	0	0	1	0	15	143				
MT-CO2	4513	broad.mit.edu	37	M	7664	7664	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:7664G>A	ENST00000361739.1	+	1	79	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	MT-TD_ENST00000387419.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TK_ENST00000387421.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	27					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TTCATGATCACGCCCTCATAA	0.413																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(79-81)Gcc>Acc		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7664G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.79G>A	M.37:g.7664G>A	ENSP00000354876:p.Ala27Thr						p.A27T							1	79	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.79G>A																																																																																					0.413	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		28	120	0	0	0	1	0	28	120				
MT-ND6	4541	broad.mit.edu	37	M	14600	14600	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:14600G>A	ENST00000361681.2	-	1	73	c.74C>T	c.(73-75)cCt>cTt	p.P25L	MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	25					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCCCATAAATAGGAGAAGGCT	0.393																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(73-75)cCt>cTt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14600G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.74C>T	M.37:g.14600G>A	ENSP00000354665:p.Pro25Leu						p.P25L							1	73	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.74C>T																																																																																					0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		28	81	0	0	0	1	0	28	81				
ZNF462	58499	broad.mit.edu	37	9	109694600	109694600	+	Intron	SNP	C	C	T	rs564428856		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:109694600C>T	ENST00000277225.5	+	5	6301				ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Silent_p.D868D|ZNF462_ENST00000457913.1_Silent_p.D2022D|ZNF462_ENST00000542028.1_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462						chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCCAAAGACGCCAGTGGCG	0.557																																						ENST00000457913.1																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6064-6066)gaC>gaT		zinc finger protein 462																																				SO:0001627	intron_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109694600C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6013-127C>T	9.37:g.109694600C>T						ZNF462_ENST00000277225.5_Intron|ZNF462_ENST00000441147.2_Silent_p.D868D|ZNF462_ENST00000497489.1_3'UTR	p.D2022D	NM_021224.4	NP_067047.4	Q96JM2	ZN462_HUMAN			5	6355	+			2011					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6066C>T	CCDS35096.1																																																																																				0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	6	0	0	0	1	0	4	6				
PSMD2	5708	broad.mit.edu	37	3	184019846	184019846	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:184019846C>G	ENST00000310118.4	+	5	1249	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	231					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AAAGGTCTGCCTTTATCTCAC	0.507																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(691-693)Ctt>Gtt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						113.0	100.0	104.0					3																	184019846		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184019846C>G	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.691C>G	3.37:g.184019846C>G	ENSP00000310129:p.Leu231Val					EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V	p.L231V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	1249	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		231					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.691C>G	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943338	0.73672	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.25085	1.82;1.82;1.82	4.99	4.99	0.66335	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.92459	3.31	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.70016	0.901;0.967	T	0.72481	-0.4280	10	0.87932	D	0	-11.5101	18.4724	0.90779	0.0:1.0:0.0:0.0	.	72;231	E9PCS3;Q13200	.;PSMD2_HUMAN	V	231;223;72;101	ENSP00000310129:L231V;ENSP00000402618:L72V;ENSP00000416028:L101V	ENSP00000310129:L231V	L	+	1	0	PSMD2	185502540	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.875000	0.69660	2.586000	0.87340	0.603000	0.83216	CTT		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		33	54	0	0	0	1	0	33	54				
NACA	4666	broad.mit.edu	37	12	57114545	57114545	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:57114545A>C	ENST00000454682.1	-	3	1050	c.769T>G	c.(769-771)Tct>Gct	p.S257A	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	257	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S257P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGTGGAGAAATCAGAACT	0.512			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		1	Substitution - Missense(1)	p.S257P(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(769-771)Tct>Gct		nascent polypeptide-associated complex alpha subunit							172.0	159.0	163.0					12																	57114545		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114545A>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.769T>G	12.37:g.57114545A>C	ENSP00000403817:p.Ser257Ala					NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	p.S257A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1050	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.769T>G		.	.	.	.	.	.	.	.	.	.	a	13.97	2.397131	0.42512	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.32272	1.46;1.46	3.58	-1.13	0.09775	.	.	.	.	.	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999999	B;B	0.19817	0.039;0.007	B;B	0.17433	0.018;0.018	T	0.21518	-1.0243	9	0.87932	D	0	.	3.3985	0.07315	0.4606:0.2128:0.3265:0.0	.	257;257	E9PAV3;F8VU71	.;.	A	257	ENSP00000403817:S257A;ENSP00000448035:S257A	ENSP00000403817:S257A	S	-	1	0	NACA	55400812	0.678000	0.27586	0.714000	0.30535	0.169000	0.22640	0.847000	0.27696	-0.594000	0.05836	0.235000	0.17854	TCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		63	55	0	0	0	1	0	63	55				
G3BP2	9908	broad.mit.edu	37	4	76571563	76571563	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr4:76571563A>G	ENST00000359707.4	-	11	1920	c.1135T>C	c.(1135-1137)Ttt>Ctt	p.F379L	G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	379	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGTCATCAAAAACCACAAAA	0.328																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1135-1137)Ttt>Ctt		GTPase activating protein (SH3 domain) binding protein 2							120.0	131.0	127.0					4																	76571563		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76571563A>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1135T>C	4.37:g.76571563A>G	ENSP00000352738:p.Phe379Leu					G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	p.F379L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	1920	-			379			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1135T>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	A	36	5.658359	0.96734	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.86164	-2.08;-2.08;-2.08	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.77103	2.36	0.80722	D	1	D;P	0.56035	0.974;0.774	D;P	0.67725	0.953;0.677	D	0.93711	0.7024	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	346;379	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	L	379;379;346	ENSP00000379069:F379L;ENSP00000352738:F379L;ENSP00000350518:F346L	ENSP00000350518:F346L	F	-	1	0	G3BP2	76790587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.949000	0.93012	2.371000	0.80710	0.533000	0.62120	TTT		0.328	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		19	137	0	0	0	1	0	19	137				
MT-ND1	4535	broad.mit.edu	37	M	4113	4113	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:4113G>A	ENST00000361390.2	+	1	807	c.807G>A	c.(805-807)ctG>ctA	p.L269L	MT-ND2_ENST00000361453.3_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TV_ENST00000387342.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	269					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTAACCTCCCTGTTCTTATGA	0.443																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(805-807)ctG>ctA		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001819	synonymous_variant	4535							g.chrM:4113G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.807G>A	M.37:g.4113G>A							p.269_269insL							1	807	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.807G>A																																																																																					0.443	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		30	117	0	0	0	1	0	30	117				
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T	rs370847654		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1705-1707)aaC>aaT		armadillo repeat containing 3		C		0,4406		0,0,2203	131.0	135.0	134.0		1707	2.0	0.3	10		134	1,8599		0,1,4299	no	coding-synonymous	ARMC3	NM_173081.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		569/873	23292319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23292319C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1707C>T	10.37:g.23292319C>T						ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1791	+			569					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.1707C>T	CCDS7142.1																																																																																				0.323	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		19	95	0	0	0	1	0	19	95				
DNAH11	8701	broad.mit.edu	37	7	21757423	21757423	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:21757423G>A	ENST00000409508.3	+	43	7045	c.7014G>A	c.(7012-7014)cgG>cgA	p.R2338R	DNAH11_ENST00000328843.6_Silent_p.R2345R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2345	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGAAGGCGGCATCAATCAG	0.378									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(7033-7035)cgG>cgA		dynein, axonemal, heavy chain 11							124.0	121.0	122.0					7																	21757423		1876	4097	5973	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21757423G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7014G>A	7.37:g.21757423G>A						DNAH11_ENST00000409508.3_Silent_p.R2338R	p.R2345R			Q96DT5	DYH11_HUMAN			44	7066	+			2345			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.7035G>A																																																																																					0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	45	0	0	0	1	0	9	45				
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A	rs577495599	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511815G>A	ENST00000463781.3	-	2	7095	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_ENST00000475231.1_Silent_p.T2212T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602													.|||	116	0.0231629	0.0257	0.0187	5008	,	,		15703	0.0		0.0497	False		,,,				2504	0.0194					ENST00000463781.3																			1	Substitution - coding silent(1)	p.T2212T(1)	urinary_tract(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6634-6636)acC>acT		mucin 4, cell surface associated							38.0	31.0	33.0					3																	195511815		690	1590	2280	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511815G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6636C>T	3.37:g.195511815G>A						MUC4_ENST00000475231.1_Silent_p.T2212T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T2212T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7095	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1001					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6636C>T	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	11	0	0	0	1	0	3	11				
MUC4	4585	broad.mit.edu	37	3	195511911	195511911	+	Silent	SNP	G	G	A	rs200732241		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511911G>A	ENST00000463781.3	-	2	6999	c.6540C>T	c.(6538-6540)acC>acT	p.T2180T	MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2180T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.587																																						ENST00000463781.3																			2	Substitution - coding silent(2)	p.T2180T(2)	endometrium(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6538-6540)acC>acT		mucin 4, cell surface associated							8.0	14.0	12.0					3																	195511911		633	1518	2151	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511911G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6540C>T	3.37:g.195511911G>A						MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T2180T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6999	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	959					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6540C>T	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	6	0	0	0	1	0	3	6				
PKD1L2	114780	broad.mit.edu	37	16	81197274	81197274	+	RNA	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:81197274G>A	ENST00000525539.1	-	0	3407				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGGCCACCGACAGTCCCGC	0.532																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							42.0	41.0	42.0					16																	81197274		1958	4156	6114			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81197274G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81197274G>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	3407	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	12	0	0	0	1	0	5	12				
ERBB3	2065	broad.mit.edu	37	12	56492632	56492632	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56492632G>A	ENST00000267101.3	+	23	3222	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	928	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAGAAGGGGGAGCGGTTGGC	0.512																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2782-2784)Gag>Aag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							114.0	102.0	106.0					12																	56492632		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56492632G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2782G>A	12.37:g.56492632G>A	ENSP00000267101:p.Glu928Lys					ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K	p.E928K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3222	+			928			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2782G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983417	0.97173	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.86719	0.6000	N	0.25245	0.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.87636	0.2519	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	869;48;928	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	K	928;285;869;51;169;48	ENSP00000267101:E928K;ENSP00000399178:E285K;ENSP00000408340:E869K;ENSP00000449129:E169K;ENSP00000448729:E48K	ENSP00000267101:E928K	E	+	1	0	ERBB3	54778899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.686000	0.98664	2.941000	0.99782	0.655000	0.94253	GAG		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			49	138	0	0	0	1	0	49	138				
MT-ND2	4536	broad.mit.edu	37	M	2108	2108	+	5'Flank	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:2108G>A	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TAGTCCAAAGAGGAACAGCTC	0.388																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2108G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2108G>A	Exception_encountered							NR_039705.1						0	438	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		107	30	0	0	0	1	0	107	30				
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																						ENST00000267101.3																			9	Substitution - Missense(9)	p.V104M(7)|p.V104L(2)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(310-312)Gtg>Atg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478854G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met					ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	750	+			104		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.310G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			75	161	0	0	0	1	0	75	161				
OR12D3	81797	broad.mit.edu	37	6	29343055	29343055	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29343055C>T	ENST00000396806.3	-	1	13	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATTGTAGTGACATTCTCCATT	0.328																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(10-12)Gtc>Atc		olfactory receptor, family 12, subfamily D, member 3							32.0	36.0	34.0					6																	29343055		1495	2693	4188	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29343055C>T		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.10G>A	6.37:g.29343055C>T	ENSP00000380023:p.Val4Ile					OR5V1_ENST00000377154.1_Intron	p.V4I	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	13	-			4					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.10G>A	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	c	8.196	0.796981	0.16327	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00576	6.45	4.34	-0.213	0.13165	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14364	-1.0475	9	0.36615	T	0.2	-1.4052	7.328	0.26566	0.2573:0.2565:0.4862:0.0	.	4	Q9UGF7	O12D3_HUMAN	I	4	ENSP00000380023:V4I	ENSP00000366348:V4I	V	-	1	0	OR12D3	29451034	0.000000	0.05858	0.001000	0.08648	0.807000	0.45602	-1.900000	0.01599	0.046000	0.15833	0.431000	0.28591	GTC		0.328	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			16	34	0	0	0	1	0	16	34				
KLHDC7A	127707	broad.mit.edu	37	1	18809452	18809452	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:18809452C>T	ENST00000400664.1	+	1	2029	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	659						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTGGGCCGGCCCCACCG	0.682																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1975-1977)gcC>gcT		kelch domain containing 7A							23.0	26.0	25.0					1																	18809452		2202	4298	6500	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809452C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1977C>T	1.37:g.18809452C>T							p.A659A	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2029	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	659					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1977C>T	CCDS185.2																																																																																				0.682	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		18	21	0	0	0	1	0	18	21				
PAPPA2	60676	broad.mit.edu	37	1	176738843	176738843	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:176738843C>A	ENST00000367662.3	+	16	5588	c.4424C>A	c.(4423-4425)gCa>gAa	p.A1475E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1475	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGAACTATGCAAACTTCTCC	0.517																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4423-4425)gCa>gAa		pappalysin 2							136.0	131.0	132.0					1																	176738843		1947	4154	6101	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738843C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4424C>A	1.37:g.176738843C>A	ENSP00000356634:p.Ala1475Glu						p.A1475E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5588	+			1475			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4424C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356046	0.82243	.	.	ENSG00000116183	ENST00000367662	T	0.52754	0.65	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75258	-0.3381	10	0.87932	D	0	-17.6206	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1475	Q9BXP8	PAPP2_HUMAN	E	1475	ENSP00000356634:A1475E	ENSP00000356634:A1475E	A	+	2	0	PAPPA2	175005466	1.000000	0.71417	0.364000	0.25888	0.282000	0.26991	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	GCA		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	73	1	0	2.05212e-20	1	2.32837e-20	38	73				
ESX1	80712	broad.mit.edu	37	X	103499131	103499131	+	Silent	SNP	G	G	A	rs376654393		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:103499131G>A	ENST00000372588.4	-	2	293	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	70					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.D70D(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTCTTGGTCGTCCGAGGGGA	0.652																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			1	Substitution - coding silent(1)	p.D70D(1)	endometrium(1)	endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(208-210)gaC>gaT		ESX homeobox 1							108.0	108.0	108.0					X																	103499131		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499131G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.210C>T	X.37:g.103499131G>A							p.D70D	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	293	-			70					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.210C>T	CCDS14516.1																																																																																				0.652	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		6	244	0	0	0	1	0	6	244				
KCNA3	3738	broad.mit.edu	37	1	111216299	111216299	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:111216299G>A	ENST00000369769.2	-	1	1356	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	378					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGAGTGGCGCGACAGCTTGAA	0.592																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1132-1134)tCg>tTg		potassium voltage-gated channel, shaker-related subfamily, member 3							108.0	107.0	107.0					1																	111216299		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216299G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1133C>T	1.37:g.111216299G>A	ENSP00000358784:p.Ser378Leu						p.S378L	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1356	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	378					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1133C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531187	0.85706	.	.	ENSG00000177272	ENST00000369769	D	0.98329	-4.87	5.47	5.47	0.80525	Ion transport (1);	0.065309	0.64402	U	0.000005	D	0.98792	0.9593	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99902	1.1166	10	0.87932	D	0	.	19.3206	0.94237	0.0:0.0:1.0:0.0	.	378	P22001	KCNA3_HUMAN	L	378	ENSP00000358784:S378L	ENSP00000358784:S378L	S	-	2	0	KCNA3	111017822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.573000	0.86826	0.655000	0.94253	TCG		0.592	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		68	144	0	0	0	1	0	68	144				
HECW2	57520	broad.mit.edu	37	2	197184313	197184313	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:197184313G>A	ENST00000260983.3	-	9	1483	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCAGGTCGCTGTCCCCGG	0.502																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1300-1302)gCg>gTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							58.0	59.0	59.0					2																	197184313		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184313G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1301C>T	2.37:g.197184313G>A	ENSP00000260983:p.Ala434Val					HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	p.A434V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1483	-			434					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1301C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	5.349	0.249640	0.10130	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32023	1.47;1.47	5.42	3.61	0.41365	.	0.963224	0.08672	N	0.910767	T	0.20007	0.0481	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.22871	-1.0204	10	0.38643	T	0.18	.	9.553	0.39321	0.0744:0.1422:0.7835:0.0	.	434	Q9P2P5	HECW2_HUMAN	V	78;434	ENSP00000386775:A78V;ENSP00000260983:A434V	ENSP00000260983:A434V	A	-	2	0	HECW2	196892558	0.472000	0.25870	0.003000	0.11579	0.000000	0.00434	3.647000	0.54403	0.841000	0.35020	-0.182000	0.12963	GCG		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		26	65	0	0	0	1	0	26	65				
SRRM2	23524	broad.mit.edu	37	16	2812318	2812318	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2812318A>G	ENST00000301740.8	+	11	2338	c.1789A>G	c.(1789-1791)Aga>Gga	p.R597G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	597	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCACGATCCAGAACTCCCAC	0.617																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1789-1791)Aga>Gga		serine/arginine repetitive matrix 2							52.0	56.0	55.0					16																	2812318		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812318A>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1789A>G	16.37:g.2812318A>G	ENSP00000301740:p.Arg597Gly						p.R597G	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2338	+			597			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1789A>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386784	0.25031	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29655	1.56	5.91	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.24586	0.0596	N	0.24115	0.695	0.38104	D	0.937361	D	0.58268	0.982	P	0.46796	0.527	T	0.05533	-1.0879	10	0.27082	T	0.32	-12.5153	11.3036	0.49320	0.8472:0.1528:0.0:0.0	.	597	Q9UQ35	SRRM2_HUMAN	G	597;597;562	ENSP00000301740:R597G	ENSP00000301740:R597G	R	+	1	2	SRRM2	2752319	0.996000	0.38824	0.988000	0.46212	0.890000	0.51754	2.352000	0.44080	1.011000	0.39340	0.533000	0.62120	AGA		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			23	57	0	0	0	1	0	23	57				
SUZ12	23512	broad.mit.edu	37	17	30293184	30293184	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:30293184G>A	ENST00000322652.5	+	5	703	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SUZ12_ENST00000580398.1_Silent_p.Q135Q|RNA5SP437_ENST00000517249.1_RNA	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	158					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTCATTTGCAGCTTACGTTTA	0.269			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(472-474)caG>caA		SUZ12 polycomb repressive complex 2 subunit							28.0	28.0	28.0					17																	30293184		2199	4288	6487	SO:0001819	synonymous_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30293184G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.474G>A	17.37:g.30293184G>A						SUZ12_ENST00000580398.1_Silent_p.Q135Q	p.Q158Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			5	703	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	158					Q96BD9	Silent	SNP	ENST00000322652.5	37	c.474G>A	CCDS11270.1																																																																																				0.269	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		3	11	0	0	0	1	0	3	11				
TTC34	100287898	broad.mit.edu	37	1	2576888	2576888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:2576888delG	ENST00000401095.3	-	5	881	c.802delC	c.(802-804)cacfs	p.H268fs	TTC34_ENST00000401094.6_Frame_Shift_Del_p.H71fs	NM_001242672.1	NP_001229601.1	A8MYJ7	TTC34_HUMAN	tetratricopeptide repeat domain 34	268																	GCCCGGCAGTGGGAGTAGAGG	0.652																																						ENST00000401094.6																			0											c.(211-213)acfs		tetratricopeptide repeat domain 34																																				SO:0001589	frameshift_variant	100287898						binding	g.chr1:2576888delG		CCDS55565.1	1p36.32	2013-01-11			ENSG00000215912	ENSG00000215912		"""Tetratricopeptide (TTC) repeat domain containing"""	34297	protein-coding gene	gene with protein product							Standard	NM_001242672		Approved		uc021oey.1	A8MYJ7	OTTHUMG00000000539	ENST00000401095.3:c.802delC	1.37:g.2576888delG	ENSP00000383873:p.His268fs					TTC34_ENST00000401095.3_Frame_Shift_Del_p.H268fs	p.H71fs			A8MYJ7	TTC34_HUMAN			5	638	-			268					A8MXL8	Frame_Shift_Del	DEL	ENST00000401095.3	37	c.211delC	CCDS55565.1																																																																																				0.652	TTC34-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_002342015		2	4						2	4	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921040	247921042	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:247921040_247921042delGGA	ENST00000408896.2	-	1	940_942	c.667_669delTCC	c.(667-669)tccdel	p.S223del		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	223					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGAACAGTGGAGAAGATAAGT	0.493																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(667-669)del		olfactory receptor, family 1, subfamily C, member 1																																				SO:0001651	inframe_deletion	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921040_247921042delGGA	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.667_669delTCC	1.37:g.247921040_247921042delGGA	ENSP00000386138:p.Ser223del						p.S223del	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	940_942	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	223					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	In_Frame_Del	DEL	ENST00000408896.2	37	c.667_669delTCC	CCDS41481.1																																																																																				0.493	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			53	52						53	52	---	---	---	---
GCC2-AS1	644903	broad.mit.edu	37	2	109140460	109140460	+	RNA	DEL	C	C	-	rs61036212	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:109140460delC	ENST00000440975.1	-	0	250				AC012487.2_ENST00000322353.3_RNA																							gacagcccggccccacaccct	0.433													|||unknown(ALL_OTHER_Ns)	937	0.187101	0.3147	0.0908	5008	,	,		17076	0.0675		0.174	False		,,,				2504	0.2198					ENST00000440975.1																			0																																																			0							g.chr2:109140460delC																													2.37:g.109140460delC						AC012487.2_ENST00000322353.3_RNA								0	250	-									RNA	DEL	ENST00000440975.1	37																																																																																						0.433	AC012487.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000330228.1			6	0						6	0	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	lincRNA	DEL	A	A	-	rs60396213|rs57773684		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692																																						ENST00000412295.2																			0																																																			0							g.chr5:180708854delA																													5.37:g.180708854delA														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.692	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29593423	29593424	+	RNA	DEL	AT	AT	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr20:29593423_29593424delAT	ENST00000432067.1	-	0	74																											ACAAATAGAAATAGAGAGATGG	0.351																																						ENST00000432067.1																			0																																																			0							g.chr20:29593423_29593424delAT																													20.37:g.29593423_29593424delAT														0	74	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.351	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			4	8						4	8	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11089518	11089519	+	RNA	INS	-	-	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr21:11089518_11089519insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactctgtctcaaaaaaacaga	0.48																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11089518_11089519insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11089525_11089525dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.480	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
