#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
COL4A3	1285	broad.mit.edu	37	2	228118887	228118887	+	Silent	SNP	C	C	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:228118887C>G	ENST00000396578.3	+	14	987	c.825C>G	c.(823-825)ccC>ccG	p.P275P	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	275	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTCCTGGACCCTCAGTAGGTT	0.393																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(823-825)ccC>ccG		collagen, type IV, alpha 3 (Goodpasture antigen)							89.0	98.0	95.0					2																	228118887		1886	4097	5983	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118887C>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.825C>G	2.37:g.228118887C>G						AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.P275P	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	14	987	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	275			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.825C>G	CCDS42829.1																																																																																				0.393	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	52	0	0	0	1	0	3	52				
PCDHA9	9752	broad.mit.edu	37	5	140229963	140229963	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140229963C>T	ENST00000532602.1	+	1	2916	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T628M|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGTACACGGGCGAGATC	0.677																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1882-1884)aCg>aTg									72.0	75.0	74.0					5																	140229963		2197	4275	6472	SO:0001583	missense	0							g.chr5:140229963C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1883C>T	5.37:g.140229963C>T	ENSP00000436042:p.Thr628Met					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T628M|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.T628M	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2607	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1883C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986258	0.35036	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.58060	0.36;0.36	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006029	T	0.79913	0.4528	H	0.96175	3.78	0.24564	N	0.993955	D;D	0.89917	0.986;1.0	P;D	0.87578	0.819;0.998	T	0.75311	-0.3362	10	0.87932	D	0	.	13.0686	0.59048	0.0:0.7841:0.2159:0.0	.	628;628	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	628	ENSP00000436042:T628M;ENSP00000367362:T628M	ENSP00000367362:T628M	T	+	2	0	PCDHA9	140210147	0.035000	0.19736	0.965000	0.40720	0.040000	0.13550	0.698000	0.25571	1.982000	0.57802	0.313000	0.20887	ACG		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		13	56	0	0	0	1	0	13	56				
TRPA1	8989	broad.mit.edu	37	8	72970018	72970018	+	Missense_Mutation	SNP	G	G	A	rs372548303		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:72970018G>A	ENST00000262209.4	-	9	1234	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	343					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGTGGAGAGCGTCCTTCAGAA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		18359	0.0		0.0	False		,,,				2504	0.001					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1027-1029)Cgc>Tgc		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	96.0	96.0		1027	5.5	1.0	8		96	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRPA1	NM_007332.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	343/1120	72970018	3,13003	2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72970018G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1027C>T	8.37:g.72970018G>A	ENSP00000262209:p.Arg343Cys						p.R343C	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		9	1234	-			343					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1027C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692172	0.68271	2.27E-4	2.33E-4	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.66638	-0.22;-0.22	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.161687	0.56097	D	0.000027	T	0.76140	0.3946	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.73959	-0.3818	10	0.38643	T	0.18	-17.217	19.4942	0.95065	0.0:0.0:1.0:0.0	.	343	O75762	TRPA1_HUMAN	C	195;343	ENSP00000428151:R195C;ENSP00000262209:R343C	ENSP00000262209:R343C	R	-	1	0	TRPA1	73132572	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	5.959000	0.70339	2.602000	0.87976	0.655000	0.94253	CGC		0.343	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		24	68	0	0	0	1	0	24	68				
BLM	641	broad.mit.edu	37	15	91312419	91312419	+	Silent	SNP	C	C	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr15:91312419C>G	ENST00000355112.3	+	11	2482	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	BLM_ENST00000560509.1_Silent_p.L788L|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	788	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAGGAAGCTCTTGGCACGTT	0.353			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2362-2364)ctC>ctG	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							168.0	159.0	162.0					15																	91312419		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312419C>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2364C>G	15.37:g.91312419C>G						BLM_ENST00000560509.1_Silent_p.L788L|BLM_ENST00000560136.1_3'UTR	p.L788L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		11	2482	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		788			Helicase ATP-binding.		Q52M96	Silent	SNP	ENST00000355112.3	37	c.2364C>G	CCDS10363.1																																																																																				0.353	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			4	126	0	0	0	1	0	4	126				
TIAM2	26230	broad.mit.edu	37	6	155500554	155500554	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:155500554G>A	ENST00000461783.3	+	14	3944	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	TIAM2_ENST00000360366.4_Missense_Mutation_p.V915M|TIAM2_ENST00000318981.5_Missense_Mutation_p.V891M|TIAM2_ENST00000367174.2_Missense_Mutation_p.V267M|TIAM2_ENST00000456877.2_Missense_Mutation_p.V203M|TIAM2_ENST00000529824.2_Missense_Mutation_p.V891M|TIAM2_ENST00000456144.1_Missense_Mutation_p.V891M|TIAM2_ENST00000528391.2_Missense_Mutation_p.V227M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	891	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTTATGACGTGCAGCTCAC	0.408																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2671-2673)Gtg>Atg		T-cell lymphoma invasion and metastasis 2							274.0	267.0	269.0					6																	155500554		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500554G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2671G>A	6.37:g.155500554G>A	ENSP00000437188:p.Val891Met					TIAM2_ENST00000360366.4_Missense_Mutation_p.V915M|TIAM2_ENST00000456144.1_Missense_Mutation_p.V891M|TIAM2_ENST00000456877.2_Missense_Mutation_p.V203M|TIAM2_ENST00000367174.2_Missense_Mutation_p.V267M|TIAM2_ENST00000318981.5_Missense_Mutation_p.V891M|TIAM2_ENST00000529824.2_Missense_Mutation_p.V891M|TIAM2_ENST00000528391.2_Missense_Mutation_p.V227M	p.V891M			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3944	+		Ovarian(120;0.196)	891			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2671G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044250	0.55110	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.09	4.2	0.49525	PDZ/DHR/GLGF (2);	0.191227	0.39083	N	0.001461	T	0.47395	0.1443	L	0.50333	1.59	0.26514	N	0.974549	D;D;D;D	0.67145	0.996;0.994;0.994;0.992	D;P;P;P	0.67548	0.952;0.822;0.822;0.888	T	0.31916	-0.9926	10	0.87932	D	0	.	10.1962	0.43056	0.1507:0.0:0.8493:0.0	.	227;891;915;891	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	M	891;1137;891;891;891;267;915;891;203;227	ENSP00000437188:V891M;ENSP00000434901:V891M;ENSP00000407746:V891M;ENSP00000327315:V891M;ENSP00000356142:V267M;ENSP00000353528:V915M;ENSP00000433348:V891M;ENSP00000407183:V203M;ENSP00000435335:V227M	ENSP00000327315:V891M	V	+	1	0	TIAM2	155542246	0.804000	0.28969	0.846000	0.33378	0.602000	0.36980	1.116000	0.31221	2.537000	0.85549	0.655000	0.94253	GTG		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		28	113	0	0	0	1	0	28	113				
CUBN	8029	broad.mit.edu	37	10	16941092	16941092	+	Missense_Mutation	SNP	G	G	A	rs144422027		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:16941092G>A	ENST00000377833.4	-	54	8566	c.8501C>T	c.(8500-8502)aCg>aTg	p.T2834M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2834	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAATGGCCGTCCAGGAACA	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8500-8502)aCg>aTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	MET/THR	0,4406		0,0,2203	161.0	147.0	151.0		8501	4.7	1.0	10	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUBN	NM_001081.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2834/3624	16941092	1,13005	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941092G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8501C>T	10.37:g.16941092G>A	ENSP00000367064:p.Thr2834Met						p.T2834M	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			54	8566	-			2834			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8501C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629520	0.46944	0.0	1.16E-4	ENSG00000107611	ENST00000377833	T	0.32272	1.46	5.63	4.73	0.59995	CUB (5);	0.430897	0.19808	N	0.105582	T	0.50411	0.1614	M	0.88241	2.94	0.80722	D	1	D	0.58268	0.982	P	0.49999	0.628	T	0.59337	-0.7473	10	0.37606	T	0.19	.	15.1293	0.72511	0.068:0.0:0.932:0.0	.	2834	O60494	CUBN_HUMAN	M	2834	ENSP00000367064:T2834M	ENSP00000367064:T2834M	T	-	2	0	CUBN	16981098	1.000000	0.71417	0.999000	0.59377	0.435000	0.31806	3.711000	0.54868	1.537000	0.49254	-0.215000	0.12644	ACG		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	99	0	0	0	1	0	4	99				
PCDHGA8	9708	broad.mit.edu	37	5	140774055	140774055	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140774055G>A	ENST00000398604.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCGCCCGAGAT	0.657																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1675-1677)Gcg>Acg									105.0	121.0	115.0					5																	140774055		2203	4300	6503	SO:0001583	missense	0							g.chr5:140774055G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1675G>A	5.37:g.140774055G>A	ENSP00000381605:p.Ala559Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A559T	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1675G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	1.721	-0.496727	0.04291	.	.	ENSG00000253767	ENST00000398604	T	0.18016	2.24	4.92	-0.184	0.13280	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.30999	U	0.008448	T	0.12305	0.0299	L	0.55017	1.72	0.09310	N	1	B;B	0.31026	0.106;0.304	B;B	0.26693	0.014;0.072	T	0.15694	-1.0428	10	0.37606	T	0.19	.	4.8413	0.13492	0.4009:0.0:0.4646:0.1345	.	559;559	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	T	559	ENSP00000381605:A559T	ENSP00000381605:A559T	A	+	1	0	PCDHGA8	140754239	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.099000	0.01346	-0.387000	0.07809	-0.345000	0.07892	GCG		0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		4	133	0	0	0	1	0	4	133				
NEURL3	93082	broad.mit.edu	37	2	97166221	97166221	+	RNA	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:97166221C>T	ENST00000310865.3	-	0	706							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										TCCATCACGGCCCAGAGCGGG	0.716																																						ENST00000310865.3																			0													neuralized E3 ubiquitin protein ligase 3							12.0	14.0	13.0					2																	97166221		1975	4139	6114			93082							g.chr2:97166221C>T		CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97166221C>T														0	706	-								C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	ENST00000310865.3	37																																																																																						0.716	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1	NM_138397		6	9	0	0	0	1	0	6	9				
TMEM209	84928	broad.mit.edu	37	7	129841775	129841775	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:129841775C>A	ENST00000397622.2	-	5	610	c.488G>T	c.(487-489)aGc>aTc	p.S163I	TMEM209_ENST00000462753.1_Missense_Mutation_p.S162I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S162I|TMEM209_ENST00000473456.1_Missense_Mutation_p.S163I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	163	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CAGCTGAGGGCTGTAACCAGT	0.517																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(487-489)aGc>aTc		transmembrane protein 209							68.0	68.0	68.0					7																	129841775		2025	4204	6229	SO:0001583	missense	84928					integral to membrane		g.chr7:129841775C>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.488G>T	7.37:g.129841775C>A	ENSP00000380747:p.Ser163Ile					TMEM209_ENST00000473456.1_Missense_Mutation_p.S163I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S162I|TMEM209_ENST00000462753.1_Missense_Mutation_p.S162I	p.S163I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			5	610	-	Melanoma(18;0.0435)		163			Ser-rich.		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.488G>T	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063244	0.93898	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.77	5.77	0.91146	.	0.116911	0.85682	D	0.000000	T	0.61211	0.2329	M	0.72118	2.19	0.54753	D	0.999985	D;D;D	0.76494	0.997;0.982;0.999	D;P;D	0.87578	0.994;0.839;0.998	T	0.62863	-0.6764	10	0.87932	D	0	-10.8266	17.1486	0.86772	0.0:1.0:0.0:0.0	.	163;163;163	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	I	163;162;163;162;163	ENSP00000380747:S163I;ENSP00000419697:S162I;ENSP00000417258:S163I;ENSP00000338388:S162I	ENSP00000338388:S162I	S	-	2	0	TMEM209	129629011	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.273000	0.78527	2.729000	0.93468	0.467000	0.42956	AGC		0.517	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		6	26	1	0	8.12818e-05	1	8.71932e-05	6	26				
BCL11B	64919	broad.mit.edu	37	14	99642013	99642013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:99642013G>A	ENST00000357195.3	-	4	1169	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L	BCL11B_ENST00000443726.2_Missense_Mutation_p.P193L|BCL11B_ENST00000345514.2_Missense_Mutation_p.P316L	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	387					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGGTGCATAGGGTTGCCGCG	0.756			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(946-948)cCt>cTt		B-cell CLL/lymphoma 11B (zinc finger protein)							5.0	6.0	6.0					14																	99642013		1810	3734	5544	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642013G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1160C>T	14.37:g.99642013G>A	ENSP00000349723:p.Pro387Leu					BCL11B_ENST00000357195.3_Missense_Mutation_p.P387L|BCL11B_ENST00000443726.2_Missense_Mutation_p.P193L	p.P316L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1213	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	387					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.947C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404651	0.62288	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.14266	2.54;2.56;2.52	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.32852	0.0843	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.968	T	0.04373	-1.0956	10	0.45353	T	0.12	-1.8718	17.0711	0.86573	0.0:0.0:1.0:0.0	.	316;387	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	L	387;316;193	ENSP00000349723:P387L;ENSP00000280435:P316L;ENSP00000387419:P193L	ENSP00000280435:P316L	P	-	2	0	BCL11B	98711766	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.267000	0.65530	2.102000	0.63906	0.561000	0.74099	CCT		0.756	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	1	0	0	0	1	0	3	1				
CCDC132	55610	broad.mit.edu	37	7	92901950	92901950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:92901950C>T	ENST00000305866.5	+	11	834	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	CCDC132_ENST00000544910.1_Nonsense_Mutation_p.Q206*|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q236*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q47*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	236						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATATAGGAACAGCTGGACGT	0.328																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(616-618)Cag>Tag		coiled-coil domain containing 132							56.0	56.0	56.0					7																	92901950		2203	4297	6500	SO:0001587	stop_gained	55610							g.chr7:92901950C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.706C>T	7.37:g.92901950C>T	ENSP00000307666:p.Gln236*					CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q47*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Nonsense_Mutation_p.Q236*|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q236*	p.Q206*	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	836	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		236					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	ENST00000305866.5	37	c.616C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757117	0.89843	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.0539	20.3116	0.98642	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;206;47	.	ENSP00000251739:Q236X	Q	+	1	0	CCDC132	92739886	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.770000	0.85390	2.890000	0.99128	0.650000	0.86243	CAG		0.328	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		4	33	0	0	0	1	0	4	33				
TACC2	10579	broad.mit.edu	37	10	123970886	123970886	+	Missense_Mutation	SNP	G	G	C	rs374042332		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:123970886G>C	ENST00000369005.1	+	9	7286	c.6946G>C	c.(6946-6948)Gcc>Ccc	p.A2316P	TACC2_ENST00000513429.1_Missense_Mutation_p.A462P|TACC2_ENST00000334433.3_Missense_Mutation_p.A2316P|TACC2_ENST00000515273.1_Missense_Mutation_p.A2320P|TACC2_ENST00000453444.2_Missense_Mutation_p.A2320P|TACC2_ENST00000358010.1_Missense_Mutation_p.A462P|TACC2_ENST00000369004.3_Missense_Mutation_p.A394P|TACC2_ENST00000368999.1_Missense_Mutation_p.A394P|TACC2_ENST00000369001.1_Missense_Mutation_p.A20P|TACC2_ENST00000360561.3_Missense_Mutation_p.A394P|TACC2_ENST00000515603.1_Missense_Mutation_p.A2271P|TACC2_ENST00000260733.3_Missense_Mutation_p.A394P|TACC2_ENST00000369000.1_Missense_Mutation_p.A20P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2316	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAACACTCCTGCCTCACCTCC	0.488																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6946-6948)Gcc>Ccc		transforming, acidic coiled-coil containing protein 2							141.0	141.0	141.0					10																	123970886		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970886G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6946G>C	10.37:g.123970886G>C	ENSP00000358001:p.Ala2316Pro					TACC2_ENST00000369000.1_Missense_Mutation_p.A20P|TACC2_ENST00000260733.3_Missense_Mutation_p.A394P|TACC2_ENST00000360561.3_Missense_Mutation_p.A394P|TACC2_ENST00000515603.1_Missense_Mutation_p.A2271P|TACC2_ENST00000513429.1_Missense_Mutation_p.A462P|TACC2_ENST00000358010.1_Missense_Mutation_p.A462P|TACC2_ENST00000369001.1_Missense_Mutation_p.A20P|TACC2_ENST00000515273.1_Missense_Mutation_p.A2320P|TACC2_ENST00000334433.3_Missense_Mutation_p.A2316P|TACC2_ENST00000453444.2_Missense_Mutation_p.A2320P|TACC2_ENST00000369004.3_Missense_Mutation_p.A394P|TACC2_ENST00000368999.1_Missense_Mutation_p.A394P	p.A2316P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7286	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2316			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6946G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791978	0.31685	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20332	3.9;3.49;3.95;3.94;3.9;3.49;3.95;2.08;2.09;3.38;3.38;3.38;3.37;2.99;2.38	4.74	3.82	0.43975	.	0.000000	0.36703	N	0.002443	T	0.11707	0.0285	N	0.22421	0.69	0.29901	N	0.82438	B;B;B;P;B;B;B;B;B;P	0.38617	0.016;0.264;0.009;0.64;0.264;0.016;0.016;0.002;0.016;0.64	B;B;B;B;B;B;B;B;B;B	0.37144	0.022;0.132;0.006;0.242;0.132;0.013;0.013;0.009;0.013;0.242	T	0.05273	-1.0895	10	0.27082	T	0.32	-14.6979	6.2811	0.21007	0.15:0.1777:0.6724:0.0	.	411;2320;394;2271;2320;394;394;20;462;2316	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	P	2316;462;2320;2271;2316;462;2320;2306;20;20;394;394;394;394;411;55	ENSP00000358001:A2316P;ENSP00000425062:A462P;ENSP00000424467:A2320P;ENSP00000427618:A2271P;ENSP00000334280:A2316P;ENSP00000350701:A462P;ENSP00000395048:A2320P;ENSP00000357997:A20P;ENSP00000357996:A20P;ENSP00000353763:A394P;ENSP00000357995:A394P;ENSP00000422815:A394P;ENSP00000260733:A394P;ENSP00000420967:A411P;ENSP00000422725:A55P	ENSP00000260733:A394P	A	+	1	0	TACC2	123960876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.541000	0.36126	2.357000	0.79964	0.555000	0.69702	GCC		0.488	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	162	0	0	0	1	0	5	162				
APOE	348	broad.mit.edu	37	19	45411082	45411082	+	Nonsense_Mutation	SNP	G	G	T	rs142480126		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr19:45411082G>T	ENST00000252486.4	+	3	220	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	37					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGCAGACCGAGTGGCAGAG	0.637																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(109-111)Gag>Tag		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						33.0	33.0	33.0					19																	45411082		2203	4300	6503	SO:0001587	stop_gained	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411082G>T	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.109G>T	19.37:g.45411082G>T	ENSP00000252486:p.Glu37*						p.E37*	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	220	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	37					B2RC15|C0JYY5|Q9P2S4	Nonsense_Mutation	SNP	ENST00000252486.4	37	c.109G>T	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156979	0.38119	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	.	.	.	3.16	-6.31	0.02001	.	3.503120	0.01224	N	0.008168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.6965	7.6611	0.28404	0.2208:0.5792:0.2:0.0	.	.	.	.	X	37;37;82;37	.	ENSP00000252486:E37X	E	+	1	0	APOE	50102922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.273000	0.02823	-1.245000	0.02513	0.561000	0.74099	GAG		0.637	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		3	26	1	0	1	1	1	3	26				
PKHD1	5314	broad.mit.edu	37	6	51524479	51524479	+	Missense_Mutation	SNP	C	C	T	rs143915416		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:51524479C>T	ENST00000371117.3	-	61	10720	c.10445G>A	c.(10444-10446)cGc>cAc	p.R3482H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGAAAAAAGCGCAAAACTTG	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10444-10446)cGc>cAc		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		10445	1.8	0.2	6	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKHD1	NM_138694.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3482/4075	51524479	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524479C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10445G>A	6.37:g.51524479C>T	ENSP00000360158:p.Arg3482His						p.R3482H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10720	-	Lung NSC(77;0.0605)		3482		R -> C (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10445G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161462	0.38119	2.27E-4	1.16E-4	ENSG00000170927	ENST00000371117	D	0.94092	-3.35	5.72	1.8	0.24995	.	0.341409	0.25765	N	0.028456	T	0.76615	0.4012	L	0.34521	1.04	0.24433	N	0.99457	B	0.33135	0.399	B	0.20767	0.031	T	0.66508	-0.5906	10	0.42905	T	0.14	.	9.5386	0.39237	0.0:0.7003:0.0:0.2997	.	3482	P08F94	PKHD1_HUMAN	H	3482	ENSP00000360158:R3482H	ENSP00000360158:R3482H	R	-	2	0	PKHD1	51632438	0.980000	0.34600	0.189000	0.23252	0.909000	0.53808	0.967000	0.29344	0.032000	0.15435	0.655000	0.94253	CGC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	68	0	0	0	1	0	22	68				
AMDHD1	144193	broad.mit.edu	37	12	96350665	96350665	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr12:96350665G>A	ENST00000266736.2	+	4	618	c.512G>A	c.(511-513)cGc>cAc	p.R171H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	171					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AAGATGCTGCGCGTGATTGAG	0.627																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(511-513)cGc>cAc		amidohydrolase domain containing 1							98.0	99.0	98.0					12																	96350665		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96350665G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.512G>A	12.37:g.96350665G>A	ENSP00000266736:p.Arg171His						p.R171H	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			4	618	+			171					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.512G>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739567	0.69304	.	.	ENSG00000139344	ENST00000266736	T	0.48836	0.8	5.57	5.57	0.84162	Metal-dependent hydrolase, composite domain (1);	0.196801	0.52532	D	0.000071	T	0.60366	0.2263	M	0.88031	2.925	0.50467	D	0.999874	B	0.23650	0.089	B	0.25291	0.059	T	0.63301	-0.6668	10	0.62326	D	0.03	-0.6441	19.5469	0.95302	0.0:0.0:1.0:0.0	.	171	Q96NU7	HUTI_HUMAN	H	171	ENSP00000266736:R171H	ENSP00000266736:R171H	R	+	2	0	AMDHD1	94874796	1.000000	0.71417	0.978000	0.43139	0.882000	0.50991	5.072000	0.64389	2.632000	0.89209	0.491000	0.48974	CGC		0.627	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		19	86	0	0	0	1	0	19	86				
USP31	57478	broad.mit.edu	37	16	23079700	23079700	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:23079700C>T	ENST00000219689.7	-	16	3725	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T	USP31_ENST00000567975.1_Silent_p.T535T	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCCAAGATCCGTCGAGCGCC	0.542																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3724-3726)acG>acA		ubiquitin specific peptidase 31							137.0	146.0	143.0					16																	23079700		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079700C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3726G>A	16.37:g.23079700C>T						USP31_ENST00000567975.1_Silent_p.T535T	p.T1242T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3725	-			1242					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.3726G>A	CCDS10607.1																																																																																				0.542	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	237	0	0	0	1	0	9	237				
STK32B	55351	broad.mit.edu	37	4	5500777	5500777	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:5500777C>T	ENST00000282908.5	+	12	1634	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	STK32B_ENST00000512636.1_Silent_p.L327L|STK32B_ENST00000510398.1_Silent_p.L357L|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACAACCTCCTCACCCACACCT	0.647																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1210-1212)ctC>ctT		serine/threonine kinase 32B							144.0	106.0	119.0					4																	5500777		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5500777C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1212C>T	4.37:g.5500777C>T						STK32B_ENST00000510398.1_Silent_p.L357L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.L327L	p.L404L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			12	1634	+			404						Silent	SNP	ENST00000282908.5	37	c.1212C>T	CCDS3380.1																																																																																				0.647	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	17	0	0	0	1	0	5	17				
LRFN5	145581	broad.mit.edu	37	14	42360591	42360591	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:42360591T>A	ENST00000298119.4	+	4	2713	c.1524T>A	c.(1522-1524)ttT>ttA	p.F508L	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	508						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCATCCAGTTTACTACGGAAC	0.448										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1522-1524)ttT>ttA		leucine rich repeat and fibronectin type III domain containing 5							243.0	221.0	228.0					14																	42360591		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360591T>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1524T>A	14.37:g.42360591T>A	ENSP00000298119:p.Phe508Leu	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.F508L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2713	+			508					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1524T>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902358	0.72754	.	.	ENSG00000165379	ENST00000298119	T	0.59502	0.26	5.87	0.87	0.19102	.	0.000000	0.64402	D	0.000019	T	0.71434	0.3339	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69468	-0.5137	10	0.72032	D	0.01	.	8.8004	0.34905	0.0:0.2965:0.0:0.7035	.	508	Q96NI6	LRFN5_HUMAN	L	508	ENSP00000298119:F508L	ENSP00000298119:F508L	F	+	3	2	LRFN5	41430341	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.536000	0.45693	-0.075000	0.12798	0.528000	0.53228	TTT		0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		6	232	0	0	0	1	0	6	232				
KIF3C	3797	broad.mit.edu	37	2	26151923	26151923	+	Missense_Mutation	SNP	C	C	T	rs370755153		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:26151923C>T	ENST00000264712.3	-	8	2885	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q|KIF3C_ENST00000496378.1_5'Flank	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	769	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R769Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGAGGCCGCTGAGGACT	0.602																																						ENST00000264712.3																			1	Substitution - Missense(1)	p.R769Q(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2305-2307)cGg>cAg		kinesin family member 3C		C	GLN/ARG	0,4406		0,0,2203	94.0	83.0	87.0		2306	1.6	1.0	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF3C	NM_002254.6	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	769/794	26151923	1,13005	2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26151923C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2306G>A	2.37:g.26151923C>T	ENSP00000264712:p.Arg769Gln					KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q	p.R769Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			8	2885	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		769			Globular (Potential).		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.2306G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020727	0.35606	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72394	-0.65;-0.65	5.72	1.56	0.23342	.	0.745034	0.12573	N	0.457110	T	0.46502	0.1396	N	0.14661	0.345	0.23082	N	0.998326	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	10	0.22109	T	0.4	.	3.9001	0.09157	0.2602:0.4697:0.0:0.2702	.	767;769	B7ZM25;O14782	.;KIF3C_HUMAN	Q	769;575;769	ENSP00000264712:R769Q;ENSP00000385030:R769Q	ENSP00000264712:R769Q	R	-	2	0	KIF3C	26005427	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	1.010000	0.29898	0.370000	0.24538	-0.355000	0.07637	CGG		0.602	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			4	62	0	0	0	1	0	4	62				
FAM167B	84734	broad.mit.edu	37	1	32713983	32713983	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:32713983G>T	ENST00000373582.3	+	2	462	c.273G>T	c.(271-273)caG>caT	p.Q91H	LCK_ENST00000336890.5_5'Flank	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	91										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGGAGATGCAGGCGCAGGACA	0.697											OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(271-273)caG>caT		family with sequence similarity 167, member B							5.0	6.0	6.0					1																	32713983		1787	3700	5487	SO:0001583	missense	84734							g.chr1:32713983G>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.273G>T	1.37:g.32713983G>T	ENSP00000362684:p.Gln91His		OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.Q91H	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			2	462	+			91					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.273G>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	18.64	3.666956	0.67814	.	.	ENSG00000183615	ENST00000373582	T	0.58940	0.3	5.13	1.05	0.20165	.	0.102688	0.64402	D	0.000002	T	0.58177	0.2104	L	0.27053	0.805	0.45852	D	0.998711	D	0.55385	0.971	D	0.64321	0.924	T	0.58634	-0.7602	10	0.72032	D	0.01	-2.5002	10.5629	0.45156	0.2884:0.0:0.7116:0.0	.	91	Q9BTA0	F167B_HUMAN	H	91	ENSP00000362684:Q91H	ENSP00000362684:Q91H	Q	+	3	2	FAM167B	32486570	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.606000	0.36826	0.282000	0.22254	-0.310000	0.09108	CAG		0.697	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		3	1	1	0	0.004672	1	0.00492229	3	1				
RP1	6101	broad.mit.edu	37	8	55541086	55541086	+	Missense_Mutation	SNP	T	T	G	rs199952673	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:55541086T>G	ENST00000220676.1	+	4	4792	c.4644T>G	c.(4642-4644)agT>agG	p.S1548R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1548					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCAAAATAGTGAAAAGGAGA	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4642-4644)agT>agG		retinitis pigmentosa 1 (autosomal dominant)																																				SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541086T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4644T>G	8.37:g.55541086T>G	ENSP00000220676:p.Ser1548Arg						p.S1548R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4792	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1548						Missense_Mutation	SNP	ENST00000220676.1	37	c.4644T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	5.223	0.226567	0.09916	.	.	ENSG00000104237	ENST00000220676	T	0.66099	-0.19	5.75	-4.19	0.03835	.	0.845878	0.10222	N	0.700781	T	0.34454	0.0898	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.54805	T	0.06	0.3383	1.174	0.01832	0.3215:0.2186:0.086:0.3739	.	1548	P56715	RP1_HUMAN	R	1548	ENSP00000220676:S1548R	ENSP00000220676:S1548R	S	+	3	2	RP1	55703639	0.000000	0.05858	0.023000	0.16930	0.160000	0.22226	-0.555000	0.05999	-0.395000	0.07715	-0.259000	0.10710	AGT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	53	0	0	0	1	0	5	53				
GPR141	353345	broad.mit.edu	37	7	37780567	37780567	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:37780567C>T	ENST00000447769.1	+	4	861	c.572C>T	c.(571-573)gCc>gTc	p.A191V	GPR141_ENST00000334425.1_Missense_Mutation_p.A191V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTGTCATAGCCGTTGCTGTG	0.408																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(571-573)gCc>gTc		G protein-coupled receptor 141							189.0	171.0	177.0					7																	37780567		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780567C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.572C>T	7.37:g.37780567C>T	ENSP00000390410:p.Ala191Val					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.A191V|EPDR1_ENST00000476620.1_Intron	p.A191V			Q7Z602	GP141_HUMAN			4	861	+			191					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.572C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.932585	0.00488	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.71934	-0.61;-0.61	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.862509	0.10178	N	0.706280	T	0.56337	0.1978	L	0.27053	0.805	0.27260	N	0.958654	B	0.09022	0.002	B	0.14578	0.011	T	0.50833	-0.8781	10	0.62326	D	0.03	-4.8525	5.7772	0.18285	0.0:0.6802:0.0:0.3198	.	191	Q7Z602	GP141_HUMAN	V	191	ENSP00000390410:A191V;ENSP00000334540:A191V	ENSP00000334540:A191V	A	+	2	0	GPR141	37747092	0.000000	0.05858	0.230000	0.23976	0.131000	0.20780	0.494000	0.22467	1.232000	0.43678	0.655000	0.94253	GCC		0.408	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		6	110	0	0	0	1	0	6	110				
FASTKD5	60493	broad.mit.edu	37	20	3129265	3129265	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr20:3129265A>G	ENST00000380266.3	-	2	773	c.452T>C	c.(451-453)gTc>gCc	p.V151A	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	151					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTAACTCTGACTTTGTGCAA	0.428																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(451-453)gTc>gCc		FAST kinase domains 5							89.0	85.0	86.0					20																	3129265		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129265A>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.452T>C	20.37:g.3129265A>G	ENSP00000369618:p.Val151Ala					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.V151A	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	773	-			151					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.452T>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858470	0.32791	.	.	ENSG00000215251	ENST00000380266	T	0.26518	1.73	5.8	4.72	0.59763	.	0.224065	0.22269	U	0.062296	T	0.17534	0.0421	L	0.34521	1.04	0.39944	D	0.974451	B	0.32653	0.379	B	0.30943	0.122	T	0.07290	-1.0780	10	0.15066	T	0.55	.	11.2716	0.49142	0.9291:0.0:0.0709:0.0	.	151	Q7L8L6	FAKD5_HUMAN	A	151	ENSP00000369618:V151A	ENSP00000369618:V151A	V	-	2	0	FASTKD5	3077265	1.000000	0.71417	0.977000	0.42913	0.544000	0.35116	4.959000	0.63666	2.203000	0.70933	0.460000	0.39030	GTC		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		3	56	0	0	0	1	0	3	56				
CACNA1G	8913	broad.mit.edu	37	17	48650041	48650041	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr17:48650041C>T	ENST00000359106.5	+	6	873	c.873C>T	c.(871-873)gaC>gaT	p.D291D	CACNA1G_ENST00000507336.1_Silent_p.D291D|CACNA1G_ENST00000510115.1_Silent_p.D291D|CACNA1G_ENST00000512389.1_Silent_p.D291D|CACNA1G_ENST00000507896.1_Silent_p.D291D|CACNA1G_ENST00000416767.4_Silent_p.D291D|CACNA1G_ENST00000354983.4_Silent_p.D291D|CACNA1G_ENST00000429973.2_Silent_p.D291D|CACNA1G_ENST00000515411.1_Silent_p.D291D|CACNA1G_ENST00000514717.1_Silent_p.D291D|CACNA1G_ENST00000507510.2_Silent_p.D291D|CACNA1G_ENST00000442258.2_Silent_p.D291D|CACNA1G_ENST00000502264.1_Silent_p.D291D|CACNA1G_ENST00000513964.1_Silent_p.D291D|CACNA1G_ENST00000505165.1_Silent_p.D291D|CACNA1G_ENST00000503485.1_Silent_p.D291D|CACNA1G_ENST00000515765.1_Silent_p.D291D|CACNA1G_ENST00000510366.1_Silent_p.D291D|CACNA1G_ENST00000360761.4_Silent_p.D291D|CACNA1G_ENST00000515165.1_Silent_p.D291D|CACNA1G_ENST00000514181.1_Silent_p.D291D|CACNA1G_ENST00000352832.5_Silent_p.D291D|CACNA1G_ENST00000514079.1_Silent_p.D291D|CACNA1G_ENST00000358244.5_Silent_p.D291D|CACNA1G_ENST00000507609.1_Silent_p.D291D|CACNA1G_ENST00000513689.2_Silent_p.D291D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	291	Poly-Gly.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCGCGGGGACGGGGGCGGTG	0.612																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(871-873)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						25.0	29.0	27.0					17																	48650041		2091	4209	6300	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650041C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.873C>T	17.37:g.48650041C>T						CACNA1G_ENST00000514717.1_Silent_p.D291D|CACNA1G_ENST00000505165.1_Silent_p.D291D|CACNA1G_ENST00000442258.2_Silent_p.D291D|CACNA1G_ENST00000507896.1_Silent_p.D291D|CACNA1G_ENST00000429973.2_Silent_p.D291D|CACNA1G_ENST00000507510.2_Silent_p.D291D|CACNA1G_ENST00000416767.4_Silent_p.D291D|CACNA1G_ENST00000354983.4_Silent_p.D291D|CACNA1G_ENST00000513964.1_Silent_p.D291D|CACNA1G_ENST00000515765.1_Silent_p.D291D|CACNA1G_ENST00000358244.5_Silent_p.D291D|CACNA1G_ENST00000510115.1_Silent_p.D291D|CACNA1G_ENST00000514079.1_Silent_p.D291D|CACNA1G_ENST00000503485.1_Silent_p.D291D|CACNA1G_ENST00000502264.1_Silent_p.D291D|CACNA1G_ENST00000514181.1_Silent_p.D291D|CACNA1G_ENST00000510366.1_Silent_p.D291D|CACNA1G_ENST00000359106.5_Silent_p.D291D|CACNA1G_ENST00000515411.1_Silent_p.D291D|CACNA1G_ENST00000512389.1_Silent_p.D291D|CACNA1G_ENST00000507609.1_Silent_p.D291D|CACNA1G_ENST00000513689.2_Silent_p.D291D|CACNA1G_ENST00000360761.4_Silent_p.D291D|CACNA1G_ENST00000507336.1_Silent_p.D291D|CACNA1G_ENST00000515165.1_Silent_p.D291D	p.D291D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1245	+	Breast(11;6.7e-17)		291			Poly-Gly.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.873C>T	CCDS45730.1																																																																																				0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	5	0	0	0	1	0	6	5				
CSF2RA	1438	broad.mit.edu	37	X	1407766	1407766	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:1407766A>C	ENST00000381524.3	+	6	644	c.458A>C	c.(457-459)tAc>tCc	p.Y153S	CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y20S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y153S|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y153S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	153					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TATTTTTTGTACATACGAAAC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(457-459)tAc>tCc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						91.0	100.0	97.0					X																	1407766		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407766A>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.458A>C	X.37:g.1407766A>C	ENSP00000370935:p.Tyr153Ser					CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y20S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y153S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y153S	p.Y153S			P15509	CSF2R_HUMAN			6	644	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	153					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.458A>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442773	0.25987	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	2.02	-1.51	0.08664	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.130025	0.31392	U	0.007736	D	0.86690	0.5993	.	.	.	0.09310	N	1	P;D;D;B;P;P	0.56521	0.824;0.959;0.976;0.22;0.936;0.948	P;P;P;B;P;P	0.56960	0.474;0.81;0.793;0.068;0.64;0.754	T	0.78081	-0.2343	9	0.66056	D	0.02	.	2.5303	0.04701	0.4607:0.271:0.0:0.2683	.	153;153;153;153;153;153	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	S	153;153;153;153;20;153;153;153;153;153;153;153;153	ENSP00000370940:Y153S;ENSP00000416437:Y153S;ENSP00000354836:Y153S;ENSP00000440491:Y20S;ENSP00000370935:Y153S;ENSP00000410667:Y153S;ENSP00000397452:Y153S;ENSP00000370920:Y153S;ENSP00000348058:Y153S;ENSP00000347606:Y153S;ENSP00000394227:Y153S;ENSP00000370911:Y153S	ENSP00000347606:Y153S	Y	+	2	0	CSF2RA	1367766	0.366000	0.25014	0.000000	0.03702	0.208000	0.24298	0.586000	0.23894	-0.548000	0.06199	-1.168000	0.01747	TAC		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			7	92	0	0	0	1	0	7	92				
GRIA4	2893	broad.mit.edu	37	11	105845210	105845210	+	Intron	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:105845210G>A	ENST00000530497.1	+	15	2544				RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Silent_p.S861S|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000393127.2_Silent_p.S861S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAACTTCCTCGCAGAATACCC	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2581-2583)tcG>tcA		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						97.0	95.0	95.0					11																	105845210		2201	4299	6500	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845210G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2544+39G>A	11.37:g.105845210G>A						GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Silent_p.S861S|GRIA4_ENST00000530497.1_Intron	p.S861S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	3029	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	0					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.2583G>A	CCDS8333.1																																																																																				0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			10	55	0	0	0	1	0	10	55				
ANKRD26	22852	broad.mit.edu	37	10	27324252	27324252	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:27324252G>C	ENST00000376087.4	-	24	3292	c.3127C>G	c.(3127-3129)Cgt>Ggt	p.R1043G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1059G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R600G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1042					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCTGTAAACGAGAACATTCA	0.348																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3127-3129)Cgt>Ggt		ankyrin repeat domain 26							120.0	110.0	113.0					10																	27324252		1872	4096	5968	SO:0001583	missense	22852					centrosome		g.chr10:27324252G>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3127C>G	10.37:g.27324252G>C	ENSP00000365255:p.Arg1043Gly					ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1059G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R600G	p.R1043G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3292	-			1042					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3127C>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	8.200	0.798035	0.16327	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15372	2.43;2.43;2.43	5.7	0.337	0.15966	.	0.225081	0.30003	N	0.010642	T	0.14270	0.0345	M	0.64404	1.975	0.09310	N	1	P;P;B	0.41524	0.753;0.638;0.028	B;B;B	0.39876	0.312;0.165;0.016	T	0.12837	-1.0532	10	0.45353	T	0.12	.	2.6238	0.04924	0.1627:0.263:0.4392:0.1352	.	1043;1042;1059	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	600;1043;1059	ENSP00000365238:R600G;ENSP00000365255:R1043G;ENSP00000405112:R1059G	ENSP00000365238:R600G	R	-	1	0	ANKRD26	27364258	0.061000	0.20836	0.000000	0.03702	0.022000	0.10575	2.115000	0.41921	-0.201000	0.10284	0.591000	0.81541	CGT		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			36	72	0	0	0	1	0	36	72				
SNTG2	54221	broad.mit.edu	37	2	1271265	1271265	+	Silent	SNP	C	C	T	rs371202003		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:1271265C>T	ENST00000308624.5	+	14	1335	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	SNTG2_ENST00000407292.1_Silent_p.N275N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	402	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGTTTTCAACGTGGAGCTTG	0.512																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1204-1206)aaC>aaT		syntrophin, gamma 2		C		0,3922		0,0,1961	48.0	48.0	48.0		1206	-9.2	0.0	2		48	1,8275		0,1,4137	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6098	TT,TC,CC		0.0121,0.0,0.0082		402/540	1271265	1,12197	1961	4138	6099	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271265C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1206C>T	2.37:g.1271265C>T						SNTG2_ENST00000407292.1_Silent_p.N275N	p.N402N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1335	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	402			PH.		Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1206C>T	CCDS46220.1																																																																																				0.512	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		3	15	0	0	0	1	0	3	15				
DMRT2	10655	broad.mit.edu	37	9	1053824	1053824	+	Splice_Site	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:1053824G>C	ENST00000358146.2	+	2	628	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R	DMRT2_ENST00000412350.2_Splice_Site_p.V210L|DMRT2_ENST00000382255.3_Splice_Site_p.V210L|DMRT2_ENST00000259622.6_Splice_Site_p.V210L|DMRT2_ENST00000382251.3_Splice_Site_p.G210R|DMRT2_ENST00000302441.6_Splice_Site_p.G210R			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	210					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CATTTTAGAAGGTAAAGCAAC	0.413																																						ENST00000259622.6																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.e2+1		doublesex and mab-3 related transcription factor 2							58.0	61.0	60.0					9																	1053824		2203	4300	6503	SO:0001630	splice_region_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1053824G>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.628+1G>C	9.37:g.1053824G>C						DMRT2_ENST00000302441.6_Splice_Site_p.G210_splice|DMRT2_ENST00000382255.3_Splice_Site_p.V210_splice|DMRT2_ENST00000358146.2_Splice_Site_p.G210_splice|DMRT2_ENST00000412350.2_Splice_Site_p.V210_splice|DMRT2_ENST00000382251.3_Splice_Site_p.G210_splice	p.V210_splice			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	2	628	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	0					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Splice_Site	SNP	ENST00000358146.2	37	c.628_splice	CCDS6444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.953781|4.953781	0.92660|0.92660	.|.	.|.	ENSG00000173253|ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146|ENST00000382255;ENST00000412350;ENST00000259622	T;T;T|T;T;T	0.32272|0.44881	1.46;1.46;1.46|0.91;0.91;0.91	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.229124|.	0.34531|.	N|.	0.003890|.	T|T	0.45256|0.45256	0.1333|0.1333	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.36027	1.0;1.0|0.533	D;D|B	0.97110|0.31946	0.999;1.0|0.138	T|T	0.47548|0.47548	-0.9109|-0.9109	10|9	0.62326|0.54805	D|T	0.03|0.06	-20.8782|-20.8782	19.4782|19.4782	0.94998|0.94998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	210;54|210	Q9Y5R5;Q5HYK2|Q05C20	DMRT2_HUMAN;.|.	R|L	210|210	ENSP00000371686:G210R;ENSP00000305785:G210R;ENSP00000350865:G210R|ENSP00000371690:V210L;ENSP00000397494:V210L;ENSP00000259622:V210L	ENSP00000305785:G210R|ENSP00000259622:V210L	G|V	+|+	1|1	0|0	DMRT2|DMRT2	1043824|1043824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.526000|9.526000	0.98042|0.98042	2.692000|2.692000	0.91855|0.91855	0.555000|0.555000	0.69702|0.69702	GGC|GTT		0.413	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557	Missense_Mutation	7	36	0	0	0	1	0	7	36				
SYNE1	23345	broad.mit.edu	37	6	152671420	152671420	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:152671420G>A	ENST00000367255.5	-	72	12385	c.11784C>T	c.(11782-11784)aaC>aaT	p.N3928N	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Silent_p.N3928N|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Silent_p.N3852N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3928					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGCTCACTGTTGTAGTCTT	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11782-11784)aaC>aaT		spectrin repeat containing, nuclear envelope 1							110.0	100.0	104.0					6																	152671420		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152671420G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11784C>T	6.37:g.152671420G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.N3852N|SYNE1_ENST00000265368.4_Silent_p.N3928N|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron	p.N3928N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	72	12385	-		Ovarian(120;0.0955)	3928					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11784C>T	CCDS5236.2																																																																																				0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	49	0	0	0	1	0	8	49				
S100A9	6280	broad.mit.edu	37	1	153330777	153330777	+	Silent	SNP	G	G	A	rs112531265	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:153330777G>A	ENST00000368738.3	+	2	61	c.18G>A	c.(16-18)tcG>tcA	p.S6S		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	6				S -> H (in Ref. 12; AA sequence). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAAATGTCGCAGCTGGAAC	0.478													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20385	0.0		0.002	False		,,,				2504	0.0					ENST00000368738.3																			0				breast(1)|endometrium(1)|large_intestine(2)	4						c.(16-18)tcG>tcA		S100 calcium binding protein A9		G		3,4403	6.2+/-15.9	0,3,2200	105.0	93.0	97.0		18	-8.9	0.0	1	dbSNP_132	97	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	S100A9	NM_002965.3		0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768		6/115	153330777	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153330777G>A	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.18G>A	1.37:g.153330777G>A							p.S6S	NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	61	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		6	S -> H (in Ref. 12; AA sequence).				D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Silent	SNP	ENST00000368738.3	37	c.18G>A	CCDS1036.1																																																																																				0.478	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		6	41	0	0	0	1	0	6	41				
EEF2K	29904	broad.mit.edu	37	16	22260137	22260137	+	Splice_Site	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:22260137G>T	ENST00000263026.5	+	4	882		c.e4+1			NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGCATCTCAGGTGAGCAGAGC	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.e4+1		eukaryotic elongation factor-2 kinase							118.0	92.0	101.0					16																	22260137		2197	4300	6497	SO:0001630	splice_region_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22260137G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.408+1G>T	16.37:g.22260137G>T								NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	4	882	+								Q8N588	Splice_Site	SNP	ENST00000263026.5	37		CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103795	0.56291	.	.	ENSG00000103319	ENST00000263026	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5985	0.91239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEF2K	22167638	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	9.362000	0.97126	2.463000	0.83235	0.462000	0.41574	.		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	Intron	7	33	1	0	0.27861	1	0.288386	7	33				
RALGDS	5900	broad.mit.edu	37	9	135983422	135983422	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:135983422C>A	ENST00000372050.3	-	6	1171	c.1150G>T	c.(1150-1152)Gtg>Ttg	p.V384L	RALGDS_ENST00000393157.3_Missense_Mutation_p.V383L|RALGDS_ENST00000542690.1_Missense_Mutation_p.V455L|RALGDS_ENST00000393160.3_Missense_Mutation_p.V329L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V355L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V372L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	384					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAGGGAACACCAAGAGGTGA	0.592			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(985-987)Gtg>Ttg		ral guanine nucleotide dissociation stimulator							95.0	79.0	85.0					9																	135983422		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983422C>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1150G>T	9.37:g.135983422C>A	ENSP00000361120:p.Val384Leu					RALGDS_ENST00000542690.1_Missense_Mutation_p.V455L|RALGDS_ENST00000372050.3_Missense_Mutation_p.V384L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V355L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V372L|RALGDS_ENST00000393157.3_Missense_Mutation_p.V383L|RALGDS_ENST00000469972.1_5'UTR	p.V329L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1338	-			384					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.985G>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002389	0.35320	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.39	-1.09	0.09904	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	1.578220	0.03664	N	0.242958	T	0.15219	0.0367	N	0.11927	0.2	0.09310	N	1	B;B;B;B;B;B;B;B	0.15719	0.001;0.003;0.014;0.001;0.0;0.001;0.004;0.002	B;B;B;B;B;B;B;B	0.20577	0.001;0.005;0.025;0.03;0.004;0.003;0.007;0.007	T	0.11591	-1.0581	10	0.25751	T	0.34	.	0.4229	0.00459	0.1987:0.2885:0.2247:0.2881	.	455;355;384;372;329;383;372;384	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	L	384;372;329;153;383;455;355;16	ENSP00000361120:V384L;ENSP00000361117:V372L;ENSP00000376867:V329L;ENSP00000376864:V383L;ENSP00000437518:V455L;ENSP00000361132:V355L;ENSP00000391814:V16L	ENSP00000361117:V372L	V	-	1	0	RALGDS	134973243	0.036000	0.19791	0.000000	0.03702	0.696000	0.40369	0.251000	0.18257	-0.528000	0.06366	0.655000	0.94253	GTG		0.592	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		12	41	1	0	4.3838e-07	1	4.88008e-07	12	41				
ERCC6	2074	broad.mit.edu	37	10	50740946	50740946	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:50740946G>C	ENST00000355832.5	-	2	143	c.65C>G	c.(64-66)cCt>cGt	p.P22R	PGBD3_ENST00000603152.1_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P22R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	22					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTACTGACAGGTTGACTCTG	0.448								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(64-66)cCt>cGt	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							151.0	132.0	139.0					10																	50740946		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740946G>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.65C>G	10.37:g.50740946G>C	ENSP00000348089:p.Pro22Arg					ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P22R|PGBD3_ENST00000603152.1_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P22R	p.P22R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			2	143	-			22					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.65C>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170571	0.21621	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.81996	-1.56;1.01;3.47;3.47	5.8	-11.6	0.00059	.	.	.	.	.	T	0.55369	0.1916	N	0.08118	0	0.09310	N	1	B;B	0.20368	0.044;0.0	B;B	0.14578	0.011;0.0	T	0.45323	-0.9269	9	0.25106	T	0.35	15.0199	4.169	0.10320	0.1221:0.0854:0.3128:0.4797	.	22;22	E7EV46;Q03468	.;ERCC6_HUMAN	R	22	ENSP00000348089:P22R;ENSP00000422827:P22R;ENSP00000423550:P22R;ENSP00000387966:P22R	ENSP00000348089:P22R	P	-	2	0	ERCC6;RP11-123B3.6	50410952	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-3.787000	0.00366	-3.228000	0.00210	-0.457000	0.05445	CCT		0.448	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		4	61	0	0	0	1	0	4	61				
USH2A	7399	broad.mit.edu	37	1	216219901	216219901	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:216219901G>A	ENST00000307340.3	-	32	6583	c.6197C>T	c.(6196-6198)tCc>tTc	p.S2066F	USH2A_ENST00000366943.2_Missense_Mutation_p.S2066F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2066	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGGGAAGGGATTTGGCTAC	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6196-6198)tCc>tTc		Usher syndrome 2A (autosomal recessive, mild)							87.0	81.0	83.0					1																	216219901		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219901G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6197C>T	1.37:g.216219901G>A	ENSP00000305941:p.Ser2066Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S2066F	p.S2066F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6583	-			2066			Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6197C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560722	0.86335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55413	0.52;0.52	5.48	5.48	0.80851	Fibronectin, type III (3);	0.362846	0.20037	N	0.100590	T	0.67078	0.2855	M	0.79693	2.465	0.36130	D	0.846093	D	0.56521	0.976	P	0.50440	0.641	T	0.76315	-0.3004	10	0.56958	D	0.05	.	18.6938	0.91593	0.0:0.0:1.0:0.0	.	2066	O75445	USH2A_HUMAN	F	2066	ENSP00000305941:S2066F;ENSP00000355910:S2066F	ENSP00000305941:S2066F	S	-	2	0	USH2A	214286524	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.200000	0.77838	2.733000	0.93635	0.655000	0.94253	TCC		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	31	0	0	0	1	0	18	31				
BMPR2	659	broad.mit.edu	37	2	203420161	203420161	+	Silent	SNP	A	A	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:203420161A>T	ENST00000374580.4	+	12	2312	c.1773A>T	c.(1771-1773)cgA>cgT	p.R591R	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	591					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACTATGAACGACAGCAAGCAC	0.458																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1771-1773)cgA>cgT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							147.0	126.0	133.0					2																	203420161		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420161A>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1773A>T	2.37:g.203420161A>T						BMPR2_ENST00000374574.2_Intron	p.R591R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			12	2312	+			591					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.1773A>T	CCDS33361.1																																																																																				0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		10	50	0	0	0	1	0	10	50				
PTPN12	5782	broad.mit.edu	37	7	77256290	77256290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:77256290C>T	ENST00000248594.6	+	13	1566	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R313*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R302*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	432	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAAATTGGAACGAAATTTAAG	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1294-1296)Cga>Tga		protein tyrosine phosphatase, non-receptor type 12							38.0	41.0	40.0					7																	77256290		2199	4300	6499	SO:0001587	stop_gained	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256290C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1294C>T	7.37:g.77256290C>T	ENSP00000248594:p.Arg432*					PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R302*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R313*	p.R432*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1566	+			432			Interaction with TGFB1I1 (By similarity).		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	c.1294C>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	41	8.751462	0.98939	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	.	.	.	6.17	6.17	0.99709	.	0.055898	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	432;313;313;302	.	ENSP00000248594:R432X	R	+	1	2	PTPN12	77094226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.170000	0.58229	2.941000	0.99782	0.655000	0.94253	CGA		0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			3	60	0	0	0	1	0	3	60				
RLIM	51132	broad.mit.edu	37	X	73811348	73811348	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:73811348A>G	ENST00000332687.6	-	4	2020	c.1802T>C	c.(1801-1803)tTa>tCa	p.L601S	RLIM_ENST00000349225.2_Missense_Mutation_p.L601S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	601					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTCTCAGATAACCAGCGATC	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1801-1803)tTa>tCa		ring finger protein, LIM domain interacting							109.0	90.0	97.0					X																	73811348		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811348A>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1802T>C	X.37:g.73811348A>G	ENSP00000328059:p.Leu601Ser					RLIM_ENST00000349225.2_Missense_Mutation_p.L601S	p.L601S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	2020	-			601					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1802T>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108437	0.56291	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.55234	0.53;0.53	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	D	0.000001	T	0.81069	0.4746	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87233	0.2261	10	0.87932	D	0	-14.6625	14.5727	0.68224	1.0:0.0:0.0:0.0	.	601	Q9NVW2	RNF12_HUMAN	S	601	ENSP00000328059:L601S;ENSP00000253571:L601S	ENSP00000328059:L601S	L	-	2	0	RLIM	73728073	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.906000	0.92626	1.821000	0.53095	0.486000	0.48141	TTA		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		43	6	0	0	0	1	0	43	6				
KIAA1109	84162	broad.mit.edu	37	4	123192375	123192375	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:123192375C>T	ENST00000264501.4	+	47	8069	c.7696C>T	c.(7696-7698)Cat>Tat	p.H2566Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2566Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2566Y			Q2LD37	K1109_HUMAN	KIAA1109	2566					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAAGCCAGCATGTAGATAT	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7696-7698)Cat>Tat		KIAA1109							198.0	191.0	193.0					4																	123192375		1919	4129	6048	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192375C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7696C>T	4.37:g.123192375C>T	ENSP00000264501:p.His2566Tyr					KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2566Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2566Y	p.H2566Y			Q2LD37	K1109_HUMAN			47	8069	+			2566					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7696C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863283|3.863283	0.71949|0.71949	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23754	.|2.48;2.48;1.89	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.071194	.|0.56097	.|D	.|0.000026	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999961|0.999961	.|P;P;P	.|0.46912	.|0.65;0.886;0.837	.|B;P;B	.|0.47346	.|0.275;0.544;0.265	T|T	0.04650|0.04650	-1.0936|-1.0936	5|10	.|0.87932	.|D	.|0	.|.	20.0951|20.0951	0.97834|0.97834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2566;2565;2566	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	V|Y	523|2566	.|ENSP00000264501:H2566Y;ENSP00000373390:H2566Y;ENSP00000389925:H2566Y	.|ENSP00000264501:H2566Y	A|H	+|+	2|1	0|0	KIAA1109|KIAA1109	123411825|123411825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.755000|7.755000	0.85180|0.85180	2.753000|2.753000	0.94483|0.94483	0.467000|0.467000	0.42956|0.42956	GCA|CAT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		75	171	0	0	0	1	0	75	171				
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	GRM6_ENST00000231188.5_Missense_Mutation_p.V724M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	49.0	52.0		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			14	30	0	0	0	1	0	14	30				
PDPR	55066	broad.mit.edu	37	16	70164411	70164411	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:70164411G>A	ENST00000288050.4	+	7	1650	c.693G>A	c.(691-693)caG>caA	p.Q231Q	PDPR_ENST00000568530.1_Silent_p.Q231Q|PDPR_ENST00000398122.3_Silent_p.Q131Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	231					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATAAAGGACAGATTGAATGCC	0.418																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(691-693)caG>caA		pyruvate dehydrogenase phosphatase regulatory subunit							122.0	130.0	128.0					16																	70164411		1919	4136	6055	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70164411G>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.693G>A	16.37:g.70164411G>A						PDPR_ENST00000398122.3_Silent_p.Q131Q|PDPR_ENST00000568530.1_Silent_p.Q231Q	p.Q231Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	7	1650	+			231					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.693G>A	CCDS45520.1																																																																																				0.418	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		5	43	0	0	0	1	0	5	43				
SI	6476	broad.mit.edu	37	3	164739052	164739052	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr3:164739052G>A	ENST00000264382.3	-	27	3281	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID). {ECO:0000269|PubMed:16329100}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAATCTGGATGCCAAAAGGAT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3217-3219)ggC>ggT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						166.0	165.0	166.0					3																	164739052		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739052G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3219C>T	3.37:g.164739052G>A		HNSCC(35;0.089)					p.G1073G	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3281	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1073		G -> D (in CSID).	Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3219C>T	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		57	117	0	0	0	1	0	57	117				
USP24	23358	broad.mit.edu	37	1	55569614	55569614	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:55569614T>G	ENST00000294383.6	-	42	4959	c.4960A>C	c.(4960-4962)Att>Ctt	p.I1654L	USP24_ENST00000407756.1_Missense_Mutation_p.I1494L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1654					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTATAATAATTTGAAGATTT	0.388																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4960-4962)Att>Ctt		ubiquitin specific peptidase 24							57.0	55.0	55.0					1																	55569614		1836	4085	5921	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55569614T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4960A>C	1.37:g.55569614T>G	ENSP00000294383:p.Ile1654Leu					USP24_ENST00000407756.1_Missense_Mutation_p.I1494L	p.I1654L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			42	4959	-			1654					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4960A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	9.527	1.109735	0.20714	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.66280	-0.2;-0.2	6.05	4.86	0.63082	.	0.105485	0.64402	D	0.000004	T	0.24470	0.0593	N	0.00583	-1.355	0.42293	D	0.99214	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.06494	T	0.89	.	10.845	0.46739	0.0:0.0:0.2581:0.7419	.	1494	B7WPF4	.	L	1654;1494	ENSP00000294383:I1654L;ENSP00000385700:I1494L	ENSP00000294383:I1654L	I	-	1	0	USP24	55342202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.338000	0.65947	2.320000	0.78422	0.528000	0.53228	ATT		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			15	7	0	0	0	1	0	15	7				
MBTPS1	8720	broad.mit.edu	37	16	84089609	84089609	+	Splice_Site	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:84089609C>A	ENST00000343411.3	-	22	3458		c.e22+1			NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGAGAACTCACCTCCAGGAAT	0.567																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e22+1		membrane-bound transcription factor peptidase, site 1							81.0	79.0	80.0					16																	84089609		2200	4300	6500	SO:0001630	splice_region_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089609C>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2962+1G>T	16.37:g.84089609C>A								NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			22	3458	-								A8K6V8|Q24JQ2|Q9UF67	Splice_Site	SNP	ENST00000343411.3	37		CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619707	0.87460	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MBTPS1	82647110	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.718000	0.84743	2.655000	0.90218	0.655000	0.94253	.		0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	Intron	12	40	1	0	2.80697e-09	1	3.18484e-09	12	40				
SIT1	27240	broad.mit.edu	37	9	35650900	35650900	+	De_novo_Start_InFrame	SNP	G	G	A	rs375220097		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:35650900G>A	ENST00000259608.3	-	0	37				SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1						immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCAGGCCCGTACCCCGCAG	0.582																																						ENST00000259608.3																			0				endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9								signaling threshold regulating transmembrane adaptor 1		G		1,4397		0,1,2198	59.0	42.0	48.0			2.7	0.4	9		48	0,8578		0,0,4289	no	utr-5	SIT1	NM_014450.2		0,1,6487	AA,AG,GG		0.0,0.0227,0.0077			35650900	1,12975	2199	4289	6488			27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650900G>A		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867		9.37:g.35650900G>A						SIT1_ENST00000474403.1_5'UTR		NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		0	37	-								B2RBP9	Translation_Start_Site	SNP	ENST00000259608.3	37		CCDS6582.1																																																																																				0.582	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		3	3	0	0	0	1	0	3	3				
GCNT1	2650	broad.mit.edu	37	9	79117782	79117782	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:79117782A>T	ENST00000376730.4	+	4	968	c.485A>T	c.(484-486)tAt>tTt	p.Y162F	GCNT1_ENST00000536223.1_Missense_Mutation_p.Y162F|GCNT1_ENST00000442371.1_Missense_Mutation_p.Y162F|GCNT1_ENST00000444201.2_Missense_Mutation_p.Y162F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	162	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GAGGATTCCTATTTAGCTGCA	0.468																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(484-486)tAt>tTt		glucosaminyl (N-acetyl) transferase 1, core 2							73.0	74.0	74.0					9																	79117782		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117782A>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.485A>T	9.37:g.79117782A>T	ENSP00000365920:p.Tyr162Phe					GCNT1_ENST00000444201.2_Missense_Mutation_p.Y162F|GCNT1_ENST00000376730.4_Missense_Mutation_p.Y162F|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y162F	p.Y162F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1424	+			162			Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.485A>T	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	0.568	-0.842351	0.02671	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	6.07	4.93	0.64822	.	0.171822	0.51477	N	0.000087	T	0.02610	0.0079	N	0.00246	-1.78	0.26364	N	0.976994	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	9	.	.	.	.	12.5152	0.56028	0.1294:0.0:0.0:0.8705	.	162	Q02742	GCNT1_HUMAN	F	162	ENSP00000440883:Y162F;ENSP00000415454:Y162F;ENSP00000390703:Y162F;ENSP00000365920:Y162F	.	Y	+	2	0	GCNT1	78307602	0.992000	0.36948	0.674000	0.29902	0.631000	0.37964	2.710000	0.47169	1.102000	0.41551	-0.339000	0.08088	TAT		0.468	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		4	96	0	0	0	1	0	4	96				
MT-ND1	4535	broad.mit.edu	37	M	3608	3608	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrM:3608G>A	ENST00000361390.2	+	1	302	c.302G>A	c.(301-303)gGc>gAc	p.G101D	MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TF_ENST00000387314.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	101					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)	CCTCAACCTAGGCCTCCTATT	0.547																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(301-303)gGc>gAc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3608G>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.302G>A	M.37:g.3608G>A	ENSP00000354687:p.Gly101Asp						p.101_101insD							1	302	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.302G>A																																																																																					0.547	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		3	0	0	0	0	1	0	3	0				
C10orf99	387695	broad.mit.edu	37	10	85936271	85936271	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:85936271A>G	ENST00000372126.3	+	2	220	c.106A>G	c.(106-108)Aga>Gga	p.R36G		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	36						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GTCAGGCAGGAGAACCAGGCT	0.572																																						ENST00000372126.3																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(106-108)Aga>Gga		chromosome 10 open reading frame 99							110.0	87.0	95.0					10																	85936271		2203	4300	6503	SO:0001583	missense	387695					extracellular region		g.chr10:85936271A>G	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.106A>G	10.37:g.85936271A>G	ENSP00000361199:p.Arg36Gly						p.R36G	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN			2	220	+			36						Missense_Mutation	SNP	ENST00000372126.3	37	c.106A>G	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810486	0.32053	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.09310	N	1	P	0.42518	0.782	B	0.32149	0.141	T	0.16808	-1.0390	7	0.87932	D	0	.	9.2276	0.37416	1.0:0.0:0.0:0.0	.	36	Q6UWK7	CJ099_HUMAN	G	36	.	ENSP00000361199:R36G	R	+	1	2	C10orf99	85926251	0.022000	0.18835	0.006000	0.13384	0.003000	0.03518	3.506000	0.53364	1.959000	0.56917	0.454000	0.30748	AGA		0.572	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		23	42	0	0	0	1	0	23	42				
GAB4	128954	broad.mit.edu	37	22	17444669	17444669	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:17444669C>T	ENST00000400588.1	-	9	1634	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	509										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCTCCTCGGCGGGGCTGAAC	0.617																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1525-1527)ccG>ccA		GRB2-associated binding protein family, member 4							46.0	54.0	52.0					22																	17444669		1988	4189	6177	SO:0001819	synonymous_variant	128954							g.chr22:17444669C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1527G>A	22.37:g.17444669C>T							p.P509P	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			9	1634	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	509						Silent	SNP	ENST00000400588.1	37	c.1527G>A	CCDS42976.1																																																																																				0.617	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		4	32	0	0	0	1	0	4	32				
HIC2	23119	broad.mit.edu	37	22	21800526	21800526	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:21800526G>A	ENST00000443632.2	+	2	1714	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	HIC2_ENST00000407464.2_Missense_Mutation_p.A448T|HIC2_ENST00000407598.2_Missense_Mutation_p.A448T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	448					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CATTCCCTGCGCCAAGGGCTT	0.622																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1342-1344)Gcc>Acc		hypermethylated in cancer 2							87.0	78.0	81.0					22																	21800526		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800526G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1342G>A	22.37:g.21800526G>A	ENSP00000387757:p.Ala448Thr					HIC2_ENST00000407464.2_Missense_Mutation_p.A448T|HIC2_ENST00000407598.2_Missense_Mutation_p.A448T	p.A448T			Q96JB3	HIC2_HUMAN			2	1714	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	448					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1342G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179347	0.78564	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10005	2.92;2.92;2.92	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055512	0.64402	D	0.000001	T	0.13970	0.0338	N	0.17278	0.47	0.31384	N	0.678666	D	0.61697	0.99	P	0.54431	0.752	T	0.01684	-1.1296	10	0.87932	D	0	.	15.2075	0.73190	0.0:0.0:1.0:0.0	.	448	Q96JB3	HIC2_HUMAN	T	448	ENSP00000385319:A448T;ENSP00000384889:A448T;ENSP00000387757:A448T	ENSP00000385319:A448T	A	+	1	0	HIC2	20130526	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.537000	0.98070	2.459000	0.83118	0.655000	0.94253	GCC		0.622	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			13	75	0	0	0	1	0	13	75				
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150.0	133.0	138.0					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met						p.V288M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		4	147	0	0	0	1	0	4	147				
NMUR2	56923	broad.mit.edu	37	5	151784130	151784130	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:151784130G>T	ENST00000255262.3	-	1	710	c.545C>A	c.(544-546)aCc>aAc	p.T182N	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	182					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATGGATGCTGGTGTTGGGCAG	0.607																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(544-546)aCc>aAc		neuromedin U receptor 2							107.0	110.0	109.0					5																	151784130		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784130G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.545C>A	5.37:g.151784130G>T	ENSP00000255262:p.Thr182Asn					NMUR2_ENST00000518933.1_Intron	p.T182N	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	710	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	182					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.545C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531387	0.85706	.	.	ENSG00000132911	ENST00000255262	T	0.38887	1.11	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.070582	0.64402	D	0.000017	T	0.70640	0.3247	M	0.90309	3.105	0.58432	D	0.999998	D	0.62365	0.991	D	0.64877	0.93	T	0.77292	-0.2642	10	0.72032	D	0.01	-20.8601	18.2637	0.90044	0.0:0.0:1.0:0.0	.	182	Q9GZQ4	NMUR2_HUMAN	N	182	ENSP00000255262:T182N	ENSP00000255262:T182N	T	-	2	0	NMUR2	151764323	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	9.507000	0.97996	2.555000	0.86185	0.585000	0.79938	ACC		0.607	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		9	79	1	0	1.12685e-05	1	1.23119e-05	9	79				
TRIM29	23650	broad.mit.edu	37	11	120008274	120008274	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:120008274C>T	ENST00000341846.5	-	1	887	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	156					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCCGTGTCGGCCCGGGGGTAG	0.642																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(466-468)Gcc>Acc		tripartite motif containing 29							48.0	62.0	57.0					11																	120008274		2202	4299	6501	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008274C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.466G>A	11.37:g.120008274C>T	ENSP00000343129:p.Ala156Thr						p.A156T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	887	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	156					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.466G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837955	0.32513	.	.	ENSG00000137699	ENST00000341846	T	0.38077	1.16	5.19	3.31	0.37934	.	0.577215	0.16371	N	0.217331	T	0.26304	0.0642	L	0.40543	1.245	0.20563	N	0.999887	P	0.35192	0.489	B	0.34180	0.177	T	0.11108	-1.0601	9	.	.	.	.	6.8298	0.23902	0.0:0.588:0.2619:0.15	.	156	Q14134	TRI29_HUMAN	T	156	ENSP00000343129:A156T	.	A	-	1	0	TRIM29	119513484	0.359000	0.24955	0.185000	0.23176	0.576000	0.36127	0.077000	0.14738	0.579000	0.29504	0.563000	0.77884	GCC		0.642	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		5	110	0	0	0	1	0	5	110				
THOC1	9984	broad.mit.edu	37	18	225119	225119	+	Frame_Shift_Del	DEL	G	G	-	rs368677132		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr18:225119delG	ENST00000261600.6	-	14	1114	c.1107delC	c.(1105-1107)cccfs	p.P369fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	369					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTCTCCATCGGGGGGGTTTT	0.388																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1105-1107)ccfs		THO complex 1							24.0	23.0	23.0					18																	225119		1808	4062	5870	SO:0001589	frameshift_variant	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225119delG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1107delC	18.37:g.225119delG	ENSP00000261600:p.Pro369fs						p.P369fs	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			14	1114	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	369					B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Del	DEL	ENST00000261600.6	37	c.1107delC	CCDS45820.1																																																																																				0.388	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		2	4						2	4	---	---	---	---
