#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBXN10	127733	broad.mit.edu	37	1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(466-468)Atg>Gtg		UBX domain protein 10							48.0	52.0	50.0					1																	20517520		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517520A>G	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.466A>G	1.37:g.20517520A>G	ENSP00000364240:p.Met156Val						p.M156V	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	550	+			156					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.466A>G	CCDS205.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.893607	0.00059	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.33	-8.67	0.00863	.	2.022920	0.02242	N	0.065892	T	0.21186	0.0510	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	9	0.06236	T	0.91	0.0217	6.2598	0.20893	0.2665:0.1719:0.4765:0.0852	.	156	Q96LJ8	UBX10_HUMAN	V	156	.	ENSP00000364240:M156V	M	+	1	0	UBXN10	20390107	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.917000	0.00695	-3.217000	0.00213	-0.468000	0.05107	ATG		0.527	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		17	21	17	21	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160394001	160394001	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1231-1233)caG>caA		VANGL planar cell polarity protein 2							137.0	112.0	121.0					1																	160394001		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394001G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1233G>A	1.37:g.160394001G>A							p.Q411Q	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1707	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		411					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1233G>A	CCDS30915.1																																																																																				0.592	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		20	39	20	39	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(352-354)Ggc>Tgc		contactin 2 (axonal)							27.0	29.0	29.0					1																	205027445		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027445G>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.352G>T	1.37:g.205027445G>T	ENSP00000330633:p.Gly118Cys						p.G118C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		4	636	+	all_cancers(21;0.144)|Breast(84;0.0437)		118			Ig-like C2-type 1.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.352G>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150663	0.94645	.	.	ENSG00000184144	ENST00000331830	T	0.60920	0.15	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.86623	0.5977	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92156	0.5732	10	0.87932	D	0	.	18.7642	0.91865	0.0:0.0:1.0:0.0	.	118	Q02246	CNTN2_HUMAN	C	118	ENSP00000330633:G118C	ENSP00000330633:G118C	G	+	1	0	CNTN2	203294068	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.508000	0.84585	0.655000	0.94253	GGC		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		3	39	3	39	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000307340.3	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000366942.3_Missense_Mutation_p.E618V|USH2A_ENST00000366943.2_Missense_Mutation_p.E618V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		CTTGCACAGCTCACAGTTCCT	0.403										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.(1852-1854)gAg>gTg		Usher syndrome 2A (autosomal recessive, mild)							156.0	139.0	145.0					1																	216462740		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462740T>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.1853A>T	1.37:g.216462740T>A	ENSP00000305941:p.Glu618Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V	p.E618V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2239	-			618			Laminin EGF-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1853A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.958037	0.73902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66099	-0.19;-0.19;-0.19	5.43	4.27	0.50696	EGF-like, laminin (4);	0.000000	0.43919	D	0.000505	D	0.84179	0.5415	H	0.96365	3.81	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	D	0.87448	0.2399	10	0.87932	D	0	.	11.7967	0.52104	0.1317:0.0:0.0:0.8683	.	618;618	O75445-2;O75445	.;USH2A_HUMAN	V	618	ENSP00000305941:E618V;ENSP00000355910:E618V;ENSP00000355909:E618V	ENSP00000305941:E618V	E	-	2	0	USH2A	214529363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.007000	0.76335	0.948000	0.37687	0.455000	0.32223	GAG		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	45	6	45	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399093	179399093	+	Silent	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000591111.1	-	308	97550	c.97326A>G	c.(97324-97326)aaA>aaG	p.K32442K	TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.K34083K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32442					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGATAACTTTAGTACTGA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(102247-102249)aaA>aaG		titin							134.0	128.0	130.0					2																	179399093		1908	4133	6041	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399093T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97326A>G	2.37:g.179399093T>C						TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.K34083K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102473	-			32442			Ig-like 151.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.102249A>G																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	18	21	18	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.5	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	331	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.5																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(991-993)gAc>gTc		insulin receptor substrate 1							51.0	55.0	54.0					2																	227662463		2198	4296	6494	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662463T>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.992A>T	2.37:g.227662463T>A	ENSP00000304895:p.Asp331Val		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.D331V	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2012	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)				Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.992A>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050194	0.75846	.	.	ENSG00000169047	ENST00000305123	T	0.60424	0.19	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.67702	0.2921	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.70382	-0.4887	10	0.66056	D	0.02	-25.527	15.8851	0.79241	0.0:0.0:0.0:1.0	.	331	P35568	IRS1_HUMAN	V	331	ENSP00000304895:D331V	ENSP00000304895:D331V	D	-	2	0	IRS1	227370707	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	8.040000	0.89188	2.154000	0.67381	0.379000	0.24179	GAC		0.716	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		28	162	28	162	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.D149Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		6	Deletion - Frameshift(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)	kidney(6)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769						c.(568-570)Gac>Tac		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							77.0	69.0	72.0					3																	10191575		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191575G>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.568G>T	3.37:g.10191575G>T	ENSP00000256474:p.Asp190Tyr					VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	p.D190Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1408	+			190					B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.568G>T	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075899	0.76415	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99841	-7.09;-7.09	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.166081	0.52532	D	0.000070	D	0.99569	0.9845	L	0.47716	1.5	0.40277	D	0.978354	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.97021	0.9743	10	0.87932	D	0	-6.0807	9.4808	0.38900	0.0939:0.0:0.9061:0.0	.	149;190	P40337-2;P40337	.;VHL_HUMAN	Y	190;149;108	ENSP00000256474:D190Y;ENSP00000344757:D149Y	ENSP00000256474:D190Y	D	+	1	0	VHL	10166575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.425000	0.52771	2.735000	0.93741	0.655000	0.94253	GAC		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		7	17	7	17	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13393391	13393391	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2821-2823)agG>agA		nucleoporin 210kDa							113.0	89.0	97.0					3																	13393391		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13393391C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2823G>A	3.37:g.13393391C>T							p.R941R	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			20	2905	-	all_neural(104;0.187)		941					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.2823G>A	CCDS33704.1																																																																																				0.532	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	56	4	56	---	---	---	---
TRAIP	10293	broad.mit.edu	37	3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'Flank	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(373-375)Ttg>Atg		TRAF interacting protein							202.0	163.0	177.0					3																	49881269		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49881269A>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.373T>A	3.37:g.49881269A>T	ENSP00000328203:p.Leu125Met					TRAIP_ENST00000469027.1_Intron	p.L125M	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	486	-			125					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.373T>A	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693569	0.68386	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	T;T	0.80909	-1.43;-1.43	5.28	0.145	0.14829	Prefoldin (1);	0.219434	0.41396	D	0.000894	D	0.85057	0.5610	M	0.66939	2.045	0.53688	D	0.999976	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.938;0.998;0.973	T	0.81844	-0.0746	10	0.56958	D	0.05	-4.1233	7.6176	0.28167	0.4298:0.0:0.5702:0.0	.	125;125;125	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	M	125;109;127	ENSP00000328203:L125M;ENSP00000418544:L109M	ENSP00000328203:L125M	L	-	1	2	TRAIP	49856273	1.000000	0.71417	0.313000	0.25210	0.956000	0.61745	2.201000	0.42734	0.039000	0.15632	-0.375000	0.07067	TTG		0.537	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		30	64	30	64	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000348417.2	+	2	144	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000296266.3_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	23					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(67-69)Gat>Tat		intraflagellar transport 122 homolog (Chlamydomonas)							199.0	190.0	193.0					3																	129168739		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129168739G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.67G>T	3.37:g.129168739G>T	ENSP00000324005:p.Asp23Tyr					IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y	p.D23Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			2	259	+			23					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.67G>T	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.313695|4.313695	0.81358|0.81358	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384|ENST00000514275;ENST00000508826;ENST00000512157;ENST00000515783	T;T;T;T;T;T|.	0.71934|.	-0.61;1.13;1.13;1.07;1.07;-0.61|.	5.71|5.71	5.71|5.71	0.89125|0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82903|.	0.5138|.	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.996;0.995;0.996;0.998;0.997;0.999|.	D|.	0.83935|.	0.0308|.	10|.	0.87932|.	D|.	0|.	-19.0305|-19.0305	18.6261|18.6261	0.91340|0.91340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23;23;23;23|.	E7EQF4;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;IF122_HUMAN;.|.	Y|L	23|9	ENSP00000323973:D23Y;ENSP00000296266:D23Y;ENSP00000425536:D23Y;ENSP00000422179:D23Y;ENSP00000324165:D23Y;ENSP00000324005:D23Y|.	ENSP00000296266:D23Y|.	D|X	+|+	1|2	0|2	IFT122|IFT122	130651429|130651429	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	6.650000|6.650000	0.74368|0.74368	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.408	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		5	75	5	75	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Silent	SNP	C	C	T	rs372078727		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													c|||	1	0.000199681	0.0	0.0	5008	,	,		18682	0.0		0.0	False		,,,				2504	0.001					ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1039-1041)aaC>aaT		collagen, type VI, alpha 6		T		1,3971		0,1,1985	173.0	182.0	179.0		1041	-2.7	0.3	3		179	0,8328		0,0,4164	no	coding-synonymous	COL6A6	NM_001102608.1		0,1,6149	TT,TC,CC		0.0,0.0252,0.0081		347/2264	130284217	1,12299	1986	4164	6150	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130284217C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1041C>T	3.37:g.130284217C>T						COL6A6_ENST00000453409.2_Silent_p.N347N	p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	1072	+			347			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.1041C>T	CCDS46911.1																																																																																				0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	165	14	165	---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135913890	135913890	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(64-66)ccC>ccA		male-specific lethal 2 homolog (Drosophila)							182.0	195.0	191.0					3																	135913890		2203	4300	6503	SO:0001819	synonymous_variant	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913890G>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.66C>A	3.37:g.135913890G>T							p.P22P	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			1	798	-			22					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	c.66C>A	CCDS33861.1																																																																																				0.527	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		70	131	70	131	---	---	---	---
LEKR1	389170	broad.mit.edu	37	3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	220										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(658-660)aaC>aaG		leucine, glutamate and lysine rich 1							53.0	55.0	54.0					3																	156746095		2203	4300	6503	SO:0001583	missense	389170							g.chr3:156746095C>G	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.660C>G	3.37:g.156746095C>G	ENSP00000418214:p.Asn220Lys					LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K	p.N220K			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		13	1995	+			105						Missense_Mutation	SNP	ENST00000470811.1	37	c.660C>G		.	.	.	.	.	.	.	.	.	.	C	11.40	1.628012	0.28978	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.39787	1.06;1.06	5.33	1.94	0.25998	.	0.299759	0.28659	N	0.014580	T	0.18551	0.0445	N	0.14661	0.345	0.21579	N	0.999638	B	0.15473	0.013	B	0.19391	0.025	T	0.15407	-1.0438	10	0.11485	T	0.65	-5.3586	2.8853	0.05659	0.0:0.3662:0.2582:0.3756	.	220	Q6ZMV7	LEKR1_HUMAN	K	220;524	ENSP00000418214:N220K;ENSP00000348936:N524K	ENSP00000348936:N524K	N	+	3	2	LEKR1	158228789	0.143000	0.22626	0.853000	0.33588	0.995000	0.86356	0.041000	0.13927	0.550000	0.28991	0.655000	0.94253	AAC		0.358	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		11	13	11	13	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D|LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(589-591)gGc>gAc		leucine rich repeat containing 15							177.0	178.0	178.0					3																	194081183		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081183C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.590G>A	3.37:g.194081183C>T	ENSP00000306276:p.Gly197Asp					LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	p.G197D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	675	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		197					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.590G>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394579	0.42512	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.55930	0.49;0.49;0.49	5.02	4.09	0.47781	.	0.288935	0.28151	N	0.016403	T	0.35335	0.0928	L	0.33624	1.015	0.29782	N	0.833894	P;B	0.37781	0.608;0.017	B;B	0.36418	0.224;0.022	T	0.18777	-1.0326	10	0.11182	T	0.66	.	9.3445	0.38100	0.0:0.6469:0.2641:0.0891	.	197;203	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	D	197;203;203	ENSP00000306276:G197D;ENSP00000389128:G203D;ENSP00000413707:G203D	ENSP00000306276:G197D	G	-	2	0	LRRC15	195562478	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.249000	0.18216	2.497000	0.84241	0.563000	0.77884	GGC		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			68	112	68	112	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(736-738)Gaa>Taa		ATPase, class V, type 10D							102.0	101.0	101.0					4																	47527619		2203	4300	6503	SO:0001587	stop_gained	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47527619G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.736G>T	4.37:g.47527619G>T	ENSP00000273859:p.Glu246*					ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			5	1005	+			246					A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	c.736G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	39	7.562327	0.98358	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0766	19.0608	0.93091	0.0:0.0:1.0:0.0	.	.	.	.	X	246	.	ENSP00000273859:E246X	E	+	1	0	ATP10D	47222376	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.775000	0.98995	2.811000	0.96726	0.655000	0.94253	GAA		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		5	23	5	23	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000344920.4_Missense_Mutation_p.Q446H|NNT_ENST00000512996.2_Missense_Mutation_p.Q315H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATATTCCTCAAGGTGCCCCAG	0.403																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1336-1338)caA>caC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						76.0	75.0	75.0					5																	43645506		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43645506A>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1338A>C	5.37:g.43645506A>C	ENSP00000264663:p.Gln446His					NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	p.Q446H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			10	1559	+	Lung NSC(6;2.58e-06)		446					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1338A>C	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629061	0.46944	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996;ENST00000503651	D;D;D;T	0.95690	-3.78;-3.78;-3.66;-1.18	5.49	1.82	0.25136	.	0.590238	0.18854	N	0.129333	D	0.93936	0.8059	M	0.76328	2.33	0.30432	N	0.777066	B	0.26512	0.151	B	0.30572	0.117	D	0.91195	0.4987	10	0.72032	D	0.01	-0.1061	9.0149	0.36164	0.5956:0.0:0.4044:0.0	.	446	Q13423	NNTM_HUMAN	H	446;446;315;16	ENSP00000264663:Q446H;ENSP00000343873:Q446H;ENSP00000426343:Q315H;ENSP00000421674:Q16H	ENSP00000264663:Q446H	Q	+	3	2	NNT	43681263	0.000000	0.05858	0.998000	0.56505	0.980000	0.70556	-0.354000	0.07681	0.386000	0.24997	-0.287000	0.09952	CAA		0.403	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		4	51	4	51	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(913-915)tTc>tCc		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						249.0	224.0	232.0					5																	80554973		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80554973T>C		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.914T>C	5.37:g.80554973T>C	ENSP00000404203:p.Phe305Ser					CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	p.F305S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	9	1152	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	305			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.914T>C	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003035	0.93287	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.23950	1.88;1.88;1.88	5.29	5.29	0.74685	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78814	-0.2056	10	0.87932	D	0	-32.9464	15.2066	0.73183	0.0:0.0:0.0:1.0	.	305	P17540	KCRS_HUMAN	S	305	ENSP00000254035:F305S;ENSP00000410289:F305S;ENSP00000404203:F305S	ENSP00000254035:F305S	F	+	2	0	CKMT2	80590729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.146000	0.71777	2.008000	0.58898	0.482000	0.46254	TTC		0.473	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		48	59	48	59	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16146916	16146916	+	Silent	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000356840.3	+	7	1470	c.1272T>A	c.(1270-1272)cgT>cgA	p.R424R	U3_ENST00000515984.1_RNA|MYLIP_ENST00000349606.4_Silent_p.R243R	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(727-729)cgT>cgA		myosin regulatory light chain interacting protein							187.0	141.0	156.0					6																	16146916		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16146916T>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1272T>A	6.37:g.16146916T>A						MYLIP_ENST00000356840.3_Silent_p.R424R	p.R243R			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		6	1233	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	424			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.729T>A	CCDS4536.1																																																																																				0.532	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		3	8	3	8	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N292I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1465-1467)aAc>aTc		G protein-coupled receptor 110							80.0	79.0	79.0					6																	46977705		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977705T>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1466A>T	6.37:g.46977705T>A	ENSP00000360299:p.Asn489Ile					GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	p.N489I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1681	-			489					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1466A>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505346	0.44558	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35421	1.32;1.31	5.2	1.25	0.21368	.	0.957043	0.08681	N	0.909440	T	0.13030	0.0316	L	0.51422	1.61	0.09310	N	1	P	0.37864	0.61	B	0.32864	0.154	T	0.13899	-1.0492	10	0.35671	T	0.21	-1.0315	7.9192	0.29835	0.0:0.0825:0.3899:0.5275	.	489	Q5T601	GP110_HUMAN	I	489;489;292	ENSP00000360299:N489I;ENSP00000283297:N292I	ENSP00000283297:N292I	N	-	2	0	GPR110	47085664	0.000000	0.05858	0.059000	0.19551	0.570000	0.35934	-1.164000	0.03135	0.885000	0.36088	0.454000	0.30748	AAC		0.413	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		12	17	12	17	---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000356644.7	-	3	428	c.334T>G	c.(334-336)Tta>Gta	p.L112V	SESN1_ENST00000436639.2_Missense_Mutation_p.L171V|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V|RP11-787I22.3_ENST00000605885.1_RNA	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(511-513)Tta>Gta		sestrin 1							81.0	77.0	78.0					6																	109322526		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109322526A>C	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.334T>G	6.37:g.109322526A>C	ENSP00000349061:p.Leu112Val					SESN1_ENST00000302071.2_Missense_Mutation_p.L46V|SESN1_ENST00000356644.7_Missense_Mutation_p.L112V	p.L171V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	3	1256	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	112					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.511T>G	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454412	0.63290	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.69435	-0.4;-0.4;-0.4	5.41	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.91510	3.215	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.77208	-0.2672	10	0.87932	D	0	-23.1554	4.6133	0.12413	0.5103:0.0:0.4897:0.0	.	171;112	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	V	171;46;112	ENSP00000393762:L171V;ENSP00000306734:L46V;ENSP00000349061:L112V	ENSP00000306734:L46V	L	-	1	2	SESN1	109429219	0.998000	0.40836	0.996000	0.52242	0.985000	0.73830	2.920000	0.48844	0.892000	0.36259	0.528000	0.53228	TTA		0.348	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		9	22	9	22	---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(988-990)Att>Gtt		karyopherin alpha 5 (importin alpha 6)							90.0	88.0	89.0					6																	117045527		2203	4298	6501	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117045527A>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.988A>G	6.37:g.117045527A>G	ENSP00000357552:p.Ile330Val					KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V	p.I330V			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	10	1136	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	327			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.988A>G	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	A	8.484	0.860389	0.17178	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.27890	1.64;1.64	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.06416	0.0165	N	0.02708	-0.52	0.37373	D	0.911717	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.22706	T	0.39	.	15.588	0.76502	1.0:0.0:0.0:0.0	.	327	O15131	IMA5_HUMAN	V	330	ENSP00000357552:I330V;ENSP00000348704:I330V	ENSP00000348704:I330V	I	+	1	0	KPNA5	117152220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.811000	0.69187	2.084000	0.62774	0.482000	0.46254	ATT		0.279	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		12	8	12	8	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2884-2886)Gga>Aga		erythrocyte membrane protein band 4.1-like 2							184.0	148.0	160.0					6																	131184804		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131184804C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2884G>A	6.37:g.131184804C>T	ENSP00000338481:p.Gly962Arg					EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R	p.G962R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	18	3065	-	Breast(56;0.0639)		962			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2884G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144946	0.94603	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000527017	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	6.0	6.0	0.97389	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89095	3.005	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.774;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.53;1.0;0.999;1.0;1.0	D	0.95253	0.8361	10	0.87932	D	0	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	630;809;962;704;340;129	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	R	83;704;809;704;962;158;630;962;892;340;630;663;768;892;226	ENSP00000434596:G83R;ENSP00000434308:G704R;ENSP00000434576:G809R;ENSP00000402041:G704R;ENSP00000338481:G962R;ENSP00000436349:G158R;ENSP00000376222:G630R;ENSP00000357110:G962R;ENSP00000436348:G892R;ENSP00000437207:G340R;ENSP00000432803:G630R;ENSP00000431988:G663R;ENSP00000431647:G768R;ENSP00000436641:G892R;ENSP00000432949:G226R	ENSP00000338481:G962R	G	-	1	0	EPB41L2	131226497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.848000	0.98002	0.655000	0.94253	GGA		0.363	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			7	23	7	23	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	AAGCTCATTTGATTTGTGACA	0.488																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1201-1203)tCa>tAa		cholinergic receptor, nicotinic, alpha 6 (neuronal)							158.0	137.0	144.0					8																	42611140		2203	4300	6503	SO:0001587	stop_gained	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611140G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1202C>A	8.37:g.42611140G>T	ENSP00000276410:p.Ser401*					CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	p.S401*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1557	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	401					B2R8V4|B4DQH1	Nonsense_Mutation	SNP	ENST00000276410.2	37	c.1202C>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186381	0.78789	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	.	.	.	6.07	6.07	0.98685	.	1.007900	0.07967	N	0.983278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	401;386	.	ENSP00000276410:S401X	S	-	2	0	CHRNA6	42730297	0.033000	0.19621	0.012000	0.15200	0.022000	0.10575	2.172000	0.42463	2.884000	0.98904	0.655000	0.94253	TCA		0.488	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			21	26	21	26	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAGAGCTGGCGAAGTGGGAG	0.572								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11710-11712)Gcc>Acc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							35.0	36.0	36.0					8																	48691160		2021	4179	6200	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691160C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11710G>A	8.37:g.48691160C>T	ENSP00000313420:p.Ala3904Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T|PRKDC_ENST00000523565.1_5'UTR	p.A3904T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			84	11766	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3905			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11710G>A		.	.	.	.	.	.	.	.	.	.	C	10.25	1.298990	0.23650	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80123	-1.34;-1.34	5.52	3.69	0.42338	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.398816	0.30455	N	0.009600	T	0.63141	0.2486	N	0.11255	0.115	0.33112	D	0.540713	B;B	0.22746	0.074;0.033	B;B	0.30716	0.119;0.089	T	0.59894	-0.7368	10	0.13108	T	0.6	.	10.4438	0.44481	0.1343:0.7962:0.0:0.0695	.	3873;3905	E7EUY0;P78527	.;PRKDC_HUMAN	T	3904;3873	ENSP00000313420:A3904T;ENSP00000345182:A3873T	ENSP00000313420:A3904T	A	-	1	0	PRKDC	48853713	0.805000	0.28982	0.006000	0.13384	0.133000	0.20885	1.036000	0.30228	0.658000	0.30925	0.655000	0.94253	GCC		0.572	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	11	7	11	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617577	77617577	+	Silent	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000455469.2_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAGTGAACACCCCAATTACCT	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1252-1254)acC>acA		zinc finger homeobox 4							40.0	38.0	38.0					8																	77617577		1926	4158	6084	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617577C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1254C>A	8.37:g.77617577C>A		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1702	+			418					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1254C>A	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	20	9	20	---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(148-150)atC>atG		olfactory receptor, family 1, subfamily K, member 1							136.0	96.0	109.0					9																	125562551		2203	4300	6503	SO:0001583	missense	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125562551C>G	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.150C>G	9.37:g.125562551C>G	ENSP00000277309:p.Ile50Met						p.I50M	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	182	+			50					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.150C>G	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000165204	ENST00000277309	T	0.08458	3.09	4.47	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.204225	0.23957	U	0.042886	T	0.28366	0.0701	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.10405	-1.0631	10	0.87932	D	0	.	4.3094	0.10964	0.159:0.5804:0.0:0.2607	.	50	Q8NGR3	OR1K1_HUMAN	M	50	ENSP00000277309:I50M	ENSP00000277309:I50M	I	+	3	3	OR1K1	124602372	0.000000	0.05858	0.011000	0.14972	0.554000	0.35429	-1.346000	0.02634	0.138000	0.18790	0.655000	0.94253	ATC		0.572	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			7	44	7	44	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.A23D			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTGCCCCCTGCTGCAGACCAT	0.488																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(67-69)gCt>gAt		matrix metallopeptidase 26							244.0	197.0	213.0					11																	5009509		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009509C>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.68C>A	11.37:g.5009509C>A	ENSP00000369753:p.Ala23Asp					MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR	p.A23D			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	284	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	23					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.68C>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	c	6.316	0.426340	0.11987	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37411	1.2;1.2	3.3	-1.23	0.09465	.	1.384170	0.05100	N	0.486951	T	0.22205	0.0535	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17684	-1.0361	10	0.12103	T	0.63	-0.0854	4.7128	0.12880	0.5555:0.3292:0.0:0.1152	.	23	Q9NRE1	MMP26_HUMAN	D	23	ENSP00000369753:A23D;ENSP00000300762:A23D	ENSP00000300762:A23D	A	+	2	0	MMP26	4966085	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-0.039000	0.13602	-0.771000	0.03389	GCT		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		34	45	34	45	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(811-813)aTa>aCa		olfactory receptor, family 52, subfamily A, member 5							158.0	149.0	152.0					11																	5153061		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153061A>G	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.812T>C	11.37:g.5153061A>G	ENSP00000303469:p.Ile271Thr						p.I271T	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	811	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	271						Missense_Mutation	SNP	ENST00000307388.1	37	c.812T>C	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063206	0.19987	.	.	ENSG00000171944	ENST00000307388	T	0.00164	8.64	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.00328	0.0010	M	0.64567	1.98	0.09310	N	0.999996	D	0.60575	0.988	P	0.62560	0.904	T	0.50923	-0.8770	10	0.87932	D	0	.	8.6738	0.34167	0.9151:0.0:0.0849:0.0	.	271	Q9H2C5	O52A5_HUMAN	T	271	ENSP00000303469:I271T	ENSP00000303469:I271T	I	-	2	0	OR52A5	5109637	0.095000	0.21747	1.000000	0.80357	0.046000	0.14306	3.837000	0.55820	2.186000	0.69663	0.533000	0.62120	ATA		0.408	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		10	36	10	36	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(193-195)tCc>tTc		olfactory receptor, family 4, subfamily C, member 13							241.0	220.0	227.0					11																	49974168		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974168C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.194C>T	11.37:g.49974168C>T	ENSP00000452277:p.Ser65Phe						p.S65F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	226	+			65					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.194C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.533137	0.27387	.	.	ENSG00000258817	ENST00000555099	T	0.12361	2.69	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000457	T	0.47746	0.1462	H	0.96175	3.78	0.22330	N	0.999192	D	0.89917	1.0	D	0.97110	1.0	T	0.49986	-0.8880	9	.	.	.	.	11.6719	0.51406	0.0:1.0:0.0:0.0	.	65	Q8NGP0	OR4CD_HUMAN	F	65	ENSP00000452277:S65F	.	S	+	2	0	OR4C13	49930744	0.047000	0.20315	0.878000	0.34440	0.071000	0.16799	3.314000	0.51943	1.646000	0.50622	0.195000	0.17529	TCC		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		15	126	15	126	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67074410	67074410	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Silent_p.L147L|SSH3_ENST00000376757.5_Silent_p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(439-441)ctG>ctT		slingshot protein phosphatase 3							48.0	46.0	47.0					11																	67074410		2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67074410G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.441G>T	11.37:g.67074410G>T						SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Silent_p.L147L	p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	619	+			147					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.441G>T	CCDS8157.1																																																																																				0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		20	67	20	67	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1039-1041)gTc>gGc		leucine-rich repeats and immunoglobulin-like domains 3							124.0	125.0	125.0					12																	59281622		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59281622A>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1040T>G	12.37:g.59281622A>C	ENSP00000326759:p.Val347Gly					LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	p.V347G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		8	1326	-			347					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1040T>G	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846584	0.51164	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.58358	0.34;0.34	5.86	5.86	0.93980	.	0.000000	0.33631	N	0.004717	T	0.59128	0.2171	L	0.42581	1.335	0.80722	D	1	B;D	0.53312	0.02;0.959	B;P	0.54270	0.049;0.747	T	0.55786	-0.8086	9	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	287;347	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	G	287;347	ENSP00000368436:V287G;ENSP00000326759:V347G	.	V	-	2	0	LRIG3	57567889	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	GTC		0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		18	32	18	32	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39451252	39451253	+	Splice_Site	DNP	AG	AG	GT			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252_39451253AG>GT	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGATC	0.436																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.e21-1		FRAS1 related extracellular matrix protein 2																																				SO:0001630	splice_region_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451252A>G|g.chr13:39451253G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	Exception_encountered	13.37:g.39451252_39451253delinsGT								NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8760	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)						Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Splice_Site	SNP	ENST00000280481.7	37		CCDS31960.1																																																																																				0.436	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Intron	6	71	6	71	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60574526	60574526	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:60574526T>G	ENST00000406854.1	+	2	724	c.170T>G	c.(169-171)gTc>gGc	p.V57G	PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	57						integral component of membrane (GO:0016021)											TGGGGTGGAGTCGGAACACTT	0.398																																						ENST00000406854.1																			0											c.(169-171)gTc>gGc		pecanex-like 4 (Drosophila)							72.0	69.0	70.0					14																	60574526		876	1991	2867	SO:0001583	missense	64430							g.chr14:60574526T>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.170T>G	14.37:g.60574526T>G	ENSP00000384801:p.Val57Gly					PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron	p.V57G							2	724	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.170T>G		.	.	.	.	.	.	.	.	.	.	T	6.215	0.407868	0.11754	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.28666	1.6;1.6	5.63	2.03	0.26663	.	0.934336	0.08080	U	1.000000	T	0.34890	0.0913	.	.	.	0.22253	N	0.999255	.	.	.	.	.	.	T	0.36504	-0.9745	7	0.87932	D	0	.	8.8644	0.35278	0.0:0.2171:0.0:0.7828	.	.	.	.	G	57	ENSP00000384801:V57G;ENSP00000385713:V57G	ENSP00000375469:V57G	V	+	2	0	C14orf135	59644279	0.970000	0.33590	0.001000	0.08648	0.081000	0.17604	3.992000	0.56980	0.109000	0.17891	-0.256000	0.11100	GTC		0.398	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	46	4	46	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1627-1629)Ccc>Acc		zinc finger protein 668							40.0	39.0	39.0					16																	31072622		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072622G>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1627C>A	16.37:g.31072622G>T	ENSP00000440149:p.Pro543Thr					ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T	p.P543T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN			3	2411	-			543					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1627C>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406163	0.83230	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.04	5.04	0.67666	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59236	-0.7492	10	0.72032	D	0.01	-18.2284	17.3161	0.87225	0.0:0.0:1.0:0.0	.	543	Q96K58	ZN668_HUMAN	T	566;543;543;543;543	ENSP00000442573:P566T;ENSP00000441349:P543T;ENSP00000440149:P543T;ENSP00000378434:P543T;ENSP00000300849:P543T	ENSP00000300849:P543T	P	-	1	0	ZNF668	30980123	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.197000	0.65141	2.634000	0.89283	0.561000	0.74099	CCC		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		44	39	44	39	---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4267640	4267641	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640_4267641AG>GT	ENST00000262962.7	+	7	796_797	c.728_729AG>GT	c.(727-729)aAG>aGT	p.K243S		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTCT	0.678											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262962.7																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7						c.(727-729)aAg>aGg|c.(727-729)aaG>aaT		coiled-coil domain containing 94																																				SO:0001583	missense	55702							g.chr19:4267640A>G|g.chr19:4267641G>T	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		Exception_encountered	19.37:g.4267640_4267641delinsGT	ENSP00000262962:p.Lys243Ser		OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.K243R|p.K243N	NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	7	796|797	+			243					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.728A>G|c.729G>T	CCDS12124.1																																																																																				0.678	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		3	36	3	36	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTCCGCCAACCGGAGCCAGGT	0.706																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1060-1062)cGg>cTg		kelch-like ECH-associated protein 1							13.0	15.0	14.0					19																	10602517		2192	4289	6481	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602517C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1061G>T	19.37:g.10602517C>A	ENSP00000171111:p.Arg354Leu					KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1608	-			354					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1061G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224724	0.58668	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.78816	-1.21;-1.21	5.52	5.52	0.82312	Kelch-type beta propeller (1);	0.111687	0.64402	D	0.000017	T	0.56572	0.1994	N	0.17248	0.465	0.46586	D	0.999118	P	0.41710	0.76	B	0.32533	0.147	T	0.59156	-0.7507	10	0.11485	T	0.65	.	12.6368	0.56687	0.0:0.8337:0.1663:0.0	.	354	Q14145	KEAP1_HUMAN	L	354	ENSP00000171111:R354L;ENSP00000377245:R354L	ENSP00000171111:R354L	R	-	2	0	KEAP1	10463517	0.997000	0.39634	0.956000	0.39512	0.984000	0.73092	5.416000	0.66417	2.609000	0.88269	0.561000	0.74099	CGG		0.706	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		3	9	3	9	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525242	61525242	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2875-2877)acC>acT		death inducer-obliterator 1							52.0	52.0	52.0					20																	61525242		2203	4299	6502	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525242G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2877C>T	20.37:g.61525242G>A						DIDO1_ENST00000395343.1_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T	p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3202	-	Breast(26;5.68e-08)		959					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2877C>T	CCDS33506.1																																																																																				0.682	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		21	31	21	31	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000215793.8	-	7	1133	c.979G>T	c.(979-981)Gtc>Ttc	p.V327F	SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	327					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562																																						ENST00000215793.8																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(979-981)Gtc>Ttc		splicing factor 3a, subunit 1, 120kDa							221.0	185.0	197.0					22																	30737773		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30737773C>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.979G>T	22.37:g.30737773C>A	ENSP00000215793:p.Val327Phe					SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	p.V327F	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			7	1133	-								E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.979G>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562577	0.86335	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.32753	1.44;1.44	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	T	0.52124	-0.8617	10	0.45353	T	0.12	-22.3269	20.428	0.99075	0.0:1.0:0.0:0.0	.	327	Q15459	SF3A1_HUMAN	F	262;327;224;23	ENSP00000390336:V262F;ENSP00000215793:V327F	ENSP00000215793:V327F	V	-	1	0	SF3A1	29067773	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.739000	0.84976	2.837000	0.97791	0.655000	0.94253	GTC		0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		5	84	5	84	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337212	144337212	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(97-99)Gac>Tac		SPANX family, member N1							112.0	105.0	107.0					X																	144337212		2203	4297	6500	SO:0001583	missense	494118							g.chrX:144337212G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.97G>T	X.37:g.144337212G>T	ENSP00000359524:p.Asp33Tyr						p.D33Y	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	856	+	Acute lymphoblastic leukemia(192;6.56e-05)		33						Missense_Mutation	SNP	ENST00000370493.3	37	c.97G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	9.311	1.055453	0.19907	.	.	ENSG00000203923	ENST00000370493	T	0.10192	2.9	1.64	-3.28	0.05033	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.58331	0.837	T	0.03259	-1.1055	8	0.37606	T	0.19	.	4.0586	0.09827	0.2705:0.3993:0.3301:0.0	.	33	Q5VSR9	SPXN1_HUMAN	Y	33	ENSP00000359524:D33Y	ENSP00000359524:D33Y	D	+	1	0	SPANXN1	144144904	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.030000	0.12308	-2.235000	0.00714	0.151000	0.16131	GAC		0.413	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		5	26	5	26	---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)atgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1174-1176)atgfs		nudix (nucleoside diphosphate linked moiety X)-type motif 12							226.0	203.0	211.0					5																	102888022		2202	4300	6502	SO:0001589	frameshift_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102888022delT	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1174delA	5.37:g.102888022delT	ENSP00000230792:p.Met392fs					NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	p.M392fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1270	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	392			Nudix hydrolase.		B3KUW2|Q8TAL7	Frame_Shift_Del	DEL	ENST00000230792.2	37	c.1174delA	CCDS4096.1																																																																																				0.423	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		12	22	12	22	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)ctgfs	p.L342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1024-1026)ctgfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619348_37619349insT	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1025dupT	17.37:g.37619349_37619349dupT	ENSP00000398880:p.Leu342fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	1057_1058	+			342					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.1024_1025insT	CCDS11337.1																																																																																				0.554	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		14	60	14	60	---	---	---	---
